The unirare natural history study

Participating in Studies Leads to Treatments

We are helping to fund a vital natural history study (NHS), named UNI-RARE. This study - sponsored by the Foundation Fighting Blindness - focuses on understanding Inherited Retinal Diseases (IRDs) like Usher syndrome, and is currently open for enrollment, specifically recruiting individuals with Usher syndrome type 1B. If you, or anyone you know, is affected by USH1B, we highly encourage participation through your closest enrolling clinic. The insights gained from UNI-RARE are crucial for moving potential treatments into clinical trials and achieving FDA approval.

How does participating in this study advance treatment discovery and approval?

1. Defining Patient Outcomes for FDA Approval

Inherited Retinal Disease (IRD) studies are essential as they monitor how vision loss progresses and affects people over time. These studies enable both researchers and companies to establish critical patient outcomes for evaluating therapies in clinical trials. For instance, to confirm a treatment's effectiveness, the FDA requires measurable improvements, such as enhanced ability to read an eye chart, increased peripheral vision, or improved night vision. Establishing specific evaluation metrics is necessary for FDA approval of new treatments.

2. Identifying People for Clinical Trials

Enrolling in a natural history study plays a significant role in identifying candidates for upcoming clinical trials. Participation increases your chances of being selected for future trials because it showcases your commitment to research and provides essential baseline data for comparing the effectiveness of therapies. For rare conditions such as Usher syndrome type 1B, the pool of potential participants is inherently small, making widespread involvement essential. We (those with USH1B) must actively participate; there simply isn't anyone else to take our place. Did you know approximately 80% of clinical trials fail or are delayed due to insufficient participation and low enrollment rates, a challenge also true for natural history studies. Imagine a breakthrough Usher syndrome treatment that could prevent you, your child, or a loved-one from going blind never getting approved simply because not enough people participated in a study or a trial…

“With dozens of emerging treatments in, or moving toward, clinical trials, the Uni-Rare Study will be invaluable in defining and validating outcome measures for clinical trials...”

— José-Alain Sahel, MD | Founder of The Institut de la Vision, Chairman of Department of Ophthalmology at U of Pitt

3. Informing The Design of Clinical Trials

Participating in a natural history study lays the foundation for designing effective clinical trials. By tracking the progression of a disease over time, these studies provide invaluable baseline data. This data helps in setting clear, measurable goals for clinical trials, ensuring therapies are accurately tested against defined benchmarks. Essentially, participation shapes the very trials that could lead to vision saving treatments.

4. Gaining Clinical Trial Investment

Clinical trials require significant financial backing, often relying on investments from biotech or pharmaceutical companies. The establishment of clear patient outcomes or clinical endpoints is crucial, as these serve as key metrics for companies to assess potential investments in treatments and trials; making them incredibly valuable for attracting investment from larger companies to cover trial costs.

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Find Your Nearest Participating Location

There will be over 32 participating clinics in the UNI-RARE study, nationally and internationally. With new sites continuing to actively enroll people.

To learn more about which sites are enrolling and to contact these locations, click the button below:

US LOCATIONS

• Jacksonville, FL - U of Florida Health

• Miami, FL - Bascom Palmer Eye Center

• Baltimore, MD - Johns Hopkins, Wilmer

• Boston, MA - Harvard, Mass Eye & Ear

• Ann Arbor, MI - U of M, Kellog Eye Center

• Durham, NC - Duke Eye Center

• Portland, OR - OHSU, Casey Eye Inst.

• Philadelphia, PA - CAROT

• Pittsburgh, PA - UPMC Eye Center

• Dallas, TX - Retina Foundation of the SW

• Madison, WI - U of Wisconsin Madison

• Phoenix, AZ - Associated Retina Consultants

• Little Rock, AR - Jones Eye Institute

• La Jolla, CA - Univ. SD Jacobs Retina Center

• Denver, CO - CO Retina Associates

• Atlanta, GA - Emory Eye Center

• Rochester, MN - Mayo Clinic

• Houston, TX - Alkek Eye Center

• Salt Lake City, UT - John Moran Eye Center

• Milwaukee, WI - Wisconsin Eye Institute

• San Francisco, CA - UCS

International Locations

• Belo Horizonte, Minas Gerais Brazil - INRET

• East Melbourne, Victoria, Australia - Centre for Eye Research 

• São Paulo, Brazil - Inst. de Genética Ocular

• Edmonton, Alberta, Canada - U of Alberta

• Toronto, Ontario Canada - Hospital for Sick Children 

• Helsinki, Finland - Helsinki University Hospital

• Paris, France - CHNO des Quinze-Vingts

• Jerusalem, Israel - Hadassah-Hebrew Univ, Med Center

• Yucatan, Merida, Mexico - Retina Genomics Inst.

• Nijmegen, Netherlands - Radbound Univ. Med Center

• Basel-Stadt, Switzerland - University Hospital Basel

• London, Inited Kingdom - Moorfields

FAQ

• What’s the minimum enrollment age? 4-years-old.

• How long does the study last? Four years, one visit annually.

• How long is a single visit? About 4-5 hours.

• Does it cost anything? The initial registry visit will be billed to your health insurance as a “standard care visit”. If you do not have health insurance, you will need to pay out-of-pocket. However, the four annual visits per year are paid for by the study (no cost to you or your health insurance). 

• Do I need health insurance? No, health insurance is not required. 

• Where can I find the nearest participating clinic? Visit: clinicaltrials.gov

• If traveling from afar, will travel expenses be covered? Yes, costs associated with travel from afar will be covered. 

• What type of tests will they be performing during visits? All non-invasive tests, including: imaging, tests of retinal sensitivity and visual acuity.

Have Additional Questions?

We recommend speaking with your retinal specialist. You can also visit the UNIRARE study website HERE, and if you have specific questions about the study, you can contact the Study Coordinator: JAEB Center for Health Research - Phone Number: 813-975-8690, Email: ffb@jaeb.org

Our supporters

Thank you!

On Thursday, November 2nd we had the absolute pleasure of hosting the 4th Annual Gift of Vision - our first in-person gala. We are still basking in the afterglow of an incredibly successful event surrounded by the most loving and generous community of supporters. Words cannot accurately express the depths of our gratitude for everyone who played a role in making the evening a success and supporting Save Sight Now. Together, in just one night, we took a significant step towards our mission of finding a treatment for childhood blindness caused by Usher syndrome type 1B.

We are delighted (and still in shock) to announce that, through our community's collective efforts and generosity, we raised an unprecedented $373,000! After tallying all donations, tickets sales and sponsorships, we surpassed last year's total by $150,000! This remarkable achievement is a testament to the power of our community and shared commitment of making a difference in the lives of those affected by Usher syndrome type 1B.

We're immensely grateful to not only our donors, but also to our visionary sponsors for their unwavering support. Your support has been instrumental in driving our mission forward. Your belief in our cause is not only inspiring but truly transformative. Without your support, our progress would not be as significant as it is today.

Please enjoy the images from the evening, captured by Ashley Wexler photography.

Calling All Researchers

The Foundation Fighting Blindness just announced a special emphasis on MYO7A-related research within their current Individual Investigator Research Award and Clinical Innovation Award calls and are encouraging all researchers focusing on applicable work to apply for this call for proposals.

Based on landscape analysis and conversations with key stakeholders and researchers, the FFB have identified a number of gaps in MYO7A-related research. They feel that these challenges can best be addressed through programs outlined within the call for proposals, however, they also welcome MYO7A-related research proposals through any of their award mechanisms.

Save Sight Now along with other entities raises over $500,000 annually to fund research that can impact people living with Usher syndrome type 1B. We have the ability to fund and sustain significant research.

You’re Invited

Join us at the exquisite Brooks Note Winery for an evening that combines fun and philanthropy. Experience the joy of tasting local wines and savoring a curated charcuterie spread, all while supporting our local charity, Save Sight Now. Engage in our silent auction featuring incredible items, and together, let's raise awareness, funds, and spirits to end childhood blindness.

This will be a special event introducing Save Sight Now—a local organization dedicated to curing childhood blindness caused by Usher syndrome - the leading cause of combined deaf-blindness. Learn about the global impact of Save Sight Now and the groundbreaking research they are funding to preserve and restore children’s sight.

This event is organized and hosted by Carol and Jeff England, whose granddaughter, Lia, is also affected by Usher syndrome.

Admission: $30 (includes wine and charcuterie)
Where: Brooks Note Winery - 426 Petaluma Blvd North, Petaluma CA
When: Thursday, August 10th - 5:30-7:30pm

RSVP to secure your place (you can also show up at the door providing space is available)
To RSVP Email: carol.england@comcast.net | Call or text: 707-799-4801
Admission can be paid at the door.

If you have any questions, do not hesitate to reach out: carol.england@comcast.net

Can’t attend, but want to support vision saving research today?

UniRare is a natural history study of vision loss progression. It is a critical and necessary step in supporting the approval of upcoming clinical trials and future therapies. Enrollments have already started at several clinics across the country, and more clinics will begin enrolling throughout the year.

This study, organized and led by the FFB, is prioritizing enrollment for Usher syndrome type 1B. The study will last for 4 years, and participants will only need to visit their local clinic once a year for non-invasive testing; similar to the imaging and testing that occurs at routine retinal specialist visits.

Why is this study so important for finding a treatment?

1. Natural history studies help researchers and organizations like the FDA understand how vision loss progresses over time. By collecting data on how quickly vision worsens, we can measure how well treatments work in clinical studies. This information is crucial for deciding if a treatment is effective and if it will ultimately progress through clinical trials and be approved by the FDA.

2. We have talked to many scientists and companies who are trying to find new treatments for retinal diseases. One of the biggest challenges they face is the lack of information on how these diseases progress naturally. Without this information they will not invest their time and money into discovering new treatments and funding clinical trials.

UniRare information packet (Downloadable PDF)

The PDF packet (click on image) will provide information about the study and answer common questions, but please reach out if you have any additional questions. To view the official study directly, visit: Universal Rare Gene Study at the NIH clinicaltrials.gov website.

Next Steps - how to enroll

• On the PDF above, or on the clinicaltrials.gov website, find and contact your nearest participating clinic to see if they have begun enrolling, or when they will. Ask to be put on their list and/or follow up periodically

• If your location is enrolling, you'll want to schedule a “Registry Appointment”

The initial "Registry Appointment" cost will be covered by your insurance, all other appointments associated with the study are free. If you need to travel from afar to reach the nearest participating clinic, those expenses will be covered as well.

If you have questions, contact your retinal specialist or Uni-Rare Coordinating Center, 813-975-8690, ffb@jaeb.org

We need your participation

This study is a vital step in the journey toward treatments that can slow down, stop, or even restore vision loss. Clinical trials like Nacuity, Endogena, SparingVision - for retinitis pigmentosa are just around the corner, and trials specifically targeting USH1B, are not far behind. Alberto Auricchio from Naples will begin enrolling USH1B patients this year for a new USH1B trial in Italy, and Atsena (Shannon Boye) hopes to start clinical trials in the United States in 2-3 years. However, without data from natural history studies to show that these treatments work, clinical trials will not make it past the middle phases of testing, and they will be – and have been – canceled because of it.

We strongly encourage anyone who wants to find a treatment for Usher syndrome to enroll and participate in this study. Without the support and involvement from our rare community, whom these treatments are intended for, it will be impossible to discover and fund treatments.

It's important to note that participating in this study does not exclude you from also being accepted and participating in clinical trials. In fact, in some cases, being part of a natural history study can increase your chances of being accepted into a clinical trial, depending on the enrollment criteria.

We hope you’ll consider joining the UniRare study to help us find treatments for USH1B. We also need your help spreading this information by sharing with other families and organizations, and through your social media channels. If you have any questions, do not hesitate to reach out: justin@savesightnow.org

Thank you CBS San Francisco/Bay Area for sharing our story and raising awareness for Usher syndrome. We are incredibly grateful for the opportunity to talk about Save Sight Now - especially on Rare Disease Day! Thank you for highlighting that motivated parent/patient led organizations can help drive research to ultimately find cures for rare diseases!

Uni-Rare Study will improve clinical understanding of more IRDs including USH1B and boost development of potential therapies.

Press Release from the Foundation Fighting Blindness:
November 10, 2022 – The Foundation Fighting Blindness, the world’s leading organization committed to finding treatments and cures for blinding retinal diseases, is committing at least $8.6 million for its Uni-Rare Study, a new natural history study for approximately 1,500 people with one of more than 300 rare genes associated with inherited retinal diseases (IRDs) including: retinitis pigmentosa, Leber congenital amaurosis, Usher syndrome, and a broad range of other conditions.

The study, due to begin recruitment in December, will help clinical researchers gain a better understanding of the course of retinal degeneration and vision loss for people with mutated genes that have not been well-characterized in the clinic. The study will also help the IRD research and therapeutic development community: 1) identify more people for clinical trials of therapies, 2) inform design of clinical trials, and 3) identify therapeutic targets for more people.

“A majority of the 300 genes linked to inherited retinal diseases have not been well characterized in the clinic. That is, we do not have a good understanding of retinal degeneration and disease progression for those affected by these mutated genes,” says Todd Durham, PhD, senior vice president, clinical development, at the Foundation Fighting Blindness. “We are excited to launch a highly inclusive study to benefit a large segment of the population affected by IRDs, which are so genetically diverse.”

“We are at a promising juncture in the clinical development of genetic therapies for inherited retinal diseases,” says José-Alain Sahel, MD, distinguished professor and chairman of the department of ophthalmology at the University of Pittsburgh School of Medicine and Uni-Rare Study chair. “With dozens of emerging treatments in, or moving toward, clinical trials, the Uni-Rare Study will be invaluable in defining and validating outcome measures for clinical trials and establishing the infrastructure for multicenter studies. The Foundation Fighting Blindness, with its strong presence and relationships in the global IRD research community, is the ideal partner to lead the effort.”

The two-part Uni-Rare Study will be conducted by the Foundation’s Clinical Consortium, a global, 40-site network of clinical research centers equipped with the experts and resources needed to launch IRD clinical trials and natural history studies. The Jaeb Center for Health Research will serve as the coordinating center.

In the first part of the study, all participants will have an initial evaluation to collect their genetic data and clinical measures. When the study is initiated, study participants whose IRD is caused by variants in the RDH12 and MYO7A genes may qualify for the second part of the study, which involves collecting clinical measures for an additional four years. Additional gene cohorts for this part of the study are expected to be added in the future.

The Foundation has received support for the study from families affected by Usher syndrome type 1B, Save Sight Now, Opus Genetics, Atsena Therapeutics, and Cove Therapeutics and is seeking additional support to add further gene cohorts to the second part of the study.

IRD patients and physicians with IRD patients can get more information at clinicaltrials.gov.

Patients with IRDs caused by mutations in the following genes are not eligible for the study: ABCA4, CEP290, CHM, CNGA3, CNGB3, EYS, GUCY2D, PCDH15, PROM1, RHO, RPE65, RPGR, USH2A. These genes are or have been part of other natural history studies or clinical trials.

About the Foundation Fighting Blindness
Established in 1971, the Foundation Fighting Blindness is the world’s leading private funding source for retinal degenerative disease research. The Foundation has raised more than $891 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of blinding retinal diseases including: retinitis pigmentosa, macular degeneration, and Usher syndrome. Visit FightingBlindness.org for more information.

About Opus Genetics
Opus Genetics is a groundbreaking gene therapy company for inherited retinal diseases with a unique model and purpose. Backed by Foundation Fighting Blindness’s venture arm, the RD Fund, Opus combines unparalleled insight and commitment to patient need with wholly owned programs in numerous orphan retinal diseases. Its AAV-based gene therapy portfolio tackles some of the most neglected forms of inherited blindness while creating novel orphan manufacturing scale and efficiencies. Based in Research Triangle Park, N.C., the company leverages knowledge of the best science and the expertise of pioneers in ocular gene therapy to transparently drive transformative treatments to patients. For more information, visit opusgenetics.com.

About Atsena Therapeutics
Atsena Therapeutics is a clinical-stage gene therapy company developing novel treatments for inherited forms of blindness. The company’s ongoing Phase I/II clinical trial is evaluating a potential therapy for a form of LCA, one of the most common causes of blindness in children. Its additional pipeline of leading preclinical assets is powered by an adeno-associated virus (AAV) technology platform tailored to overcome significant hurdles presented by inherited retinal disease, and its unique approach is guided by the specific needs of each patient condition to optimize treatment. Founded by ocular gene therapy pioneers Dr. Shannon Boye and Sanford Boye of the University of Florida, Atsena is based in North Carolina’s Research Triangle, an environment rich in gene therapy expertise. For more information, please visit atsenatx.com.

About Cove Therapeutics
Cove Therapeutics is a privately held biotechnology company focused on developing non-viral, non-lipid, nanoparticle gene therapies for orphan and chronic prevalent indications. The Company utilizes a nanoparticle technology that overcomes limitations in gene therapy by enabling cell-specific tropism, scalable manufacturing, redosing, and packaging of large genes while maintaining a favorable safety profile. Together with these nanoparticles, Cove’s lead franchise for ophthalmic conditions leverages a novel outpatient suprachoroidal device that enables broad distribution of therapeutics. Learn more about the Company through direct contact — Stephen Jasper, Gilmartin Group, Stephen@gilmartinir.com 858-525-2047.

Save Sight Now is expanding into Europe

When we started Save Sight Now 4 years ago, we never imagined going at this alone. We envisioned a motivated group of USH1B families working together, giving their time and energy to save the vision of our children, and thousands of others. There is strength in numbers; which is why we are incredibly excited to announce the expansion of Save Sight Now into Europe with the help and support of two USH1B families; Berta, Arnau, Bruna, and Elise, Xavier, Felix and their daughter.

They have established and will be leading a second Save Sight Now home base in Switzerland – Save Sight Now Europe. We are so grateful for their support, dedication, and trust in joining us. We have the same mission and same motivation, and we won’t quit until a treatment is found.

Save Sight Now Europe will support international efforts to find and identify research teams, host virtual and in-person fundraisers, and grow our network of families, supporters, and sponsors; ultimately expanding our reach and ability to accelerate research. To learn more about Save Sight Now Europe's efforts and upcoming events please visit:

savesightnoweurope.org

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Hello Canada, UK and Switzerland!

As we grow internationally so does our ability to collect tax exempt donations in more countries, giving our global donors the option to support Save Sight Now while receiving tax benefits in their home country. With the help of the Foundation Fighting Blindness, and the expansion of Save Sight Now Europe we now have the ability to accept donations from Canada, the UK and Switzerland.

We hope to keep expanding into other countries and continent's, so If you live in another country and want to join us, please reach out. If you live in Canada, the UK, or Switzerland and want to support our cause, please follow the links below to donate. Thank you. 

We’re funding two new USH1B tracks of work this year

We are incredibly pleased to announce that we – with the support of the Foundation Fighting Blindness – will be funding two new important USH1B research programs in 2022: 

1. The Characterization of a Naturally Occurring USH1B Pig Model
   Individual Investigator Award, Wolfrum Lab, Institute of Molecular Physiology, JGU

2.  USH1B Disease Pathologies, Treatments and Natural History Study
   Multiple Investigator Program Award, Institut de la Vision

The addition of these two new programs means that we are currently funding a total of four USH1B research projects, spanning the creation of large animal models for testing therapies, new treatment development, and supporting natural history studies for future clinical trials. This is all made possible because of the generous donations from Save Sight Now supporters. 

1. Characterization of Naturally Occurring USH1B Pig Model – Individual Investigator Award, Wolfrum Lab

Recently a naturally occurring USH1B pig model was found on a German (in Hamburg) pig farm - this is a very significant discovery. Researchers spend millions of dollars and years trying to develop large animal models for testing therapies (like our recent NHP model), and a naturally occurring one has been found in the wild along with several others in the same cohort. We will be funding two brilliant inherited retinal disease scientists to characterize the pig’s mutations and phenotypes, keep the herd alive and taken care of, and begin testing new therapeutic strategies. This is a 3-year program.

2. USH1B Disease Pathologies, Treatments and Natural History Study – Multiple Investigator Program Award, Institut de la Vision

This is a very large USH1B comprehensive research program that includes some of the world’s leading Usher syndrome researchers - Isabelle Audo, Deniz Dalkara, Aziz El Amraoui, and Serge Picaud - who have been collaborating on USH1B work for multiple years. This project will focus on the continuation and observation of an USH1B natural history study (including 50 patients), furthering our understanding of the role that MYO7A (the gene responsible for USH1B) plays in the degradation of photoreceptors, and pursuing multiple treatment strategies. This is a 5-year program.

These programs are incredibly important for advancing USH1B research, specifically the focus on new therapies and a new large animal model. We are also very excited about the researchers involved, they are leaders within the inherited retinal disease and gene augmentation space. To see all four tracks of work we are funding, CLICK HERE.

If you’d like to help us continue funding life changing Usher syndrome research, click on the donate button below. Thank you.

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We are funding ground breaking Usher syndrome research

The work we have been helping to fund for the past two years is officially advancing our race towards finding a treatment for Usher syndrome type 1B. Martha Neuringer and her team at OHSU have accomplished the first ever of its kind. They genetically edited (using CRISPR-cas9 technology) a Non-Human-Primate embryo, implanted that embryo into a mature female primate and successfully birthed a genetically modified NHP with an inherited retinal disease. The targeted gene was MYO7A (Usher syndrome type1B) and 6 months after Gema’s birth, Martha Neuringer and her team have confirmed the presence of all three phenotypes associated with Usher syndrome type 1b: balance problems associated w/ a damaged vestibular system, profound bi-lateral hearing loss, and the early onset of retinal degeneration - affirming the successful creation of an USH1B NHP model.

This is a tremendous scientific and medical accomplishment within the gene editing world AND a game-changing milestone for the advancement of Usher syndrome treatments. NHP’s are the gold standard for testing therapies in animal models, and prior to this breakthrough, there has never been a reliable animal model to test promising therapies for Usher syndrome type 1B. Without models you cannot test and validate therapies for clinical trials. The more accurate the model the faster and more confident we can test and refine therapies for advancing into clinical trials.

This first ever animal model creation also goes far beyond treating Usher syndrome. The tools and protocols that Martha and her team have designed, tested and validated are replicable for many inherited retinal diseases and potentially beyond. Our Save Sight Now supporters helped to fund this work, and the results are real, tangible and life changing. Overview image below is from 2022 ARVO.

If you’d like to help us continue funding groundbreaking, life changing research, click on the donate button below.

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Updated Save Sight Now Video - 2 Years Later

*During the Gift of Vision event we debuted our new Save Sight Now video which gives a personal view into our world as we struggle with the realities of USH1B, as well as speaks to the evolution of Save Sight Now as we can continue to grow and build momentum:

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Defining Characteristics & Research Significance

Usher syndrome is a rare genetic condition characterized by partial or total hearing loss and vision loss that worsens over time due to Retinitis Pigmentosa. Usher syndrome is the most common form of combined deaf-blindness. There are 3 types – type 1, 2 and 3 – categorized by severity of hearing loss and speed of vision loss. Type 1 is the most severe; nonfunctioning vestibular system, profound hearing loss at birth and significant and rapid progression of vision loss in childhood.

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profound congenital deafness

Ush type 1 is associated with profound hearing loss at birth. Hearing aids will provide no benefit; the only option for "hearing" are cochlear implants. 
Why is this important to understand: Future genetic treatments for restoring hearing are not an option for those with cochlear implants because of the structural damage done to the cochlea during implantation.

RAPID oNSET OF VISION LOSS

The speed at which vision loss progresses is faster than other types. Individuals with USH1 mutations reach legal blindness on average 15 years earlier than other types. Significant vision loss often happens prepubescent, starting with a complete loss of night vision between the ages of 3-5 and accelerated peripheral vision loss due to Retinitis Pigmentosa. 
Why is this important to understand: The therapeutic window for finding treatments to preserve functioning vision is significantly smaller than other types, meaning there is less time to find treatments for those with Ush1.

nonfunctioning vestibular system

Ush type1 is also characterized and associated with severe balance issues due to a nonfunctioning vestibular system. Those with Ush type1 are late to walk, run and jump. Balance issues persist throughout life affecting individuals overall mobility. 
Why is this important to understand: Epidemiology studies and natural history studies look at the entire impact of the disorder on the individual and society. In order to receive more funding and design treatments that account for overall accessibility it is critical to understand the entire impact on the individual's quality of life.

CLICK IMAGE BELOW TO DOWNLOAD PDF

BioBonds Would Use Wall St. Tools to Fund Medical Research

We are hoping you can help us build on the momentum of this bill and reach out to your Member in the House of Representatives to ask for their support for this bill which has the potential to get dozens of more treatments and cures for a broad range of diseases, including inherited retinal diseases, across the finish line.

To Contact Your Congressional Representative: 

Click here to identify your Member of Congress and access their contact information.  We have attached a link to a sample letter and talking points below to help with your outreach.  If your Member is already a co-sponsor, please thank them for supporting this critical legislation.

Talking Points & Sample Email to Your Congressman [FILE}

About Bio Bonds

The Long-term Opportunities for Advancing New Studies (LOANS) for Biomedical Research Act – HR 3437 – will help advance much-needed treatments and cures for a broad range of diseases and conditions into clinical trials without significantly impacting the taxpayer burden.

Unfortunately, the COVID-19 pandemic delayed or halted more than 1,000 clinical trials for treatments and cures for so many devastating conditions including cancer, eye diseases, and Alzheimer’s and Parkinson’s diseases. While the pandemic significantly slowed progress for biomedical research, the expedient development of COVID-19 vaccines showed us that financial investment can greatly accelerate the research needed to overcome these conditions.

The LOANS Act creates a unique financial instrument that would mobilize the financial capital of long-term investors to provide loans to companies at the cutting edge of developing treatments and cures across the spectrum of disease and disability.  Packages of loans to scientific projects receiving FDA clearance would be sold in BioBond issuances of no more than $10 billion per year for three years, backed by a limited federal guarantee to encourage private investors to enter a field essential to public welfare. Statutory language ensures that no single disease group or researcher is favored, and prioritization will be given to clinical trials conducted by women and racial or ethnic minorities.

An array of taxpayer protections is built in from the start, and any small upfront costs will be quickly reimbursed to the taxpayers. The program will use bonds that are based on debt, not equity interests such as those sought by high-risk venture capital funds. This approach increases protections for taxpayers by: (1) requiring any company lent funds under the program to repay or sacrifice its prized intellectual property and other assets; (2) housing idle funds in the bond in Treasury securities that earn income; and (3) ensuring that every dollar repaid goes first to reduce the taxpayer guarantee. Administrative start-up costs would be recovered from BioBond sales or other fees, not borne by taxpayers.

READ MORE: New York Times Article

HR 3437 Background Information

 On May 21, 2021, Representatives Bobby Rush (IL-1), a Democrat, and Brian Fitzpatrick (PA-1), a Republican, introduced HR 3437, The Long-term Opportunities for Advancing New Studies (LOANS) for Biomedical Research Act, which provides up to $10 billion annually for three years for loans to researchers and companies who have received authorization from the FDA to launch clinical trials for their emerging treatments.

 This bipartisan legislation has the potential to advance dozens of emerging therapies for a broad range of conditions into clinical trials including those for blindness, cancer, Alzheimer’s disease, sickle cell anemia, and more.

Many promising therapies never move out of labs into clinical trials because of a lack of funding.  Pharmaceutical companies and venture capital firms usually only fund projects that have shown efficacy in clinical trials.  HR 3437 would help more projects cross this “valley of death.”

 Due to the COVID-19 pandemic, more than 1,000 clinical trials for promising treatments and cures have stalled in development and many remain on the sidelines.  Despite this setback, the COVID-19 vaccine development effort demonstrated that significant investments in research can greatly boost and accelerate biomedical therapy development.

 The legislation provides support with minimal risk to taxpayers.  Borrowers are required to demonstrate the ability to repay these extensions of credit regardless of project success.  As a result, the CBO score for the project should be low.

 The maximum loan amount per project is $25 million per year.  Investors in the loans, known as BioBonds, would be those with risk-averse capital such as pension funds and insurers — not venture capital firms or large pharmaceutical companies. HR 3437 would provide a new and vast biomedical research funding source.

Current co-sponsors are:

• Bobby Rush (Democrat-Illinois-1) — lead

• Brian Fitzpatrick (Republican-Pennsylvania-1) — lead

• Danny K. Davis (Democrat -Illinois -7)

• Andre Carson (Democrat -Indiana-7)

• Jim Cooper (Democrat -Tennessee-5)

• Raúl M. Grijalva (Democrat -Arizona-3)

• Bennie G. Thompson (Democrat -Mississippi-2)

• Brad Schneider (Democrat - Illinois-10)

• Sanford Bishop (Democrat -Georgia-2)

• Terri Sewell (Democrat -Alabama-7)

• Jake Auchincloss (Democrat -Massachusetts-4)

• Josh Gottheimer (Democrat -New Jersey-5)

• John Rutherford (Republican -Florida-4)

• Steve Cohen (Democrat -Tennessee-9)

• Mike Levin (Democrat -California-49)

• Tom O’Halleran (Democrat -Arizona-1)

This is A Big Deal

We have some exciting news we'd like to share. The Foundation Fighting Blindness is hosting an USH1B Workshop September 13th. This is a rare occurrence where the world’s leading USH1B researchers, clinicians, patient advocates and pharmaceutical companies will be gathering online for a working session – discussing and sharing their latest findings in an effort to accelerate therapeutic treatments.

Save Sight Now is supporting and participating in this event and will be there to speak directly with researchers, gather the latest information on therapeutic approaches and identify new Save Sight Now funding targets based on the outcome of this workshop.

The goals of the Workshop are to review the Usher 1B landscape, energize the clinical and research community through shared learnings, and identify knowledge gaps for future work. The agenda will include a roundtable on emerging therapies with representatives from major pharmaceutical companies. They also want to hear from affected individuals and their families in order to ensure their perspectives for care, treatment and therapies inform both research and clinical studies.

This event is available for all to attend virtually. The FFB and Save Sight Now are strongly encouraging anyone impacted by USH1B to register for the webinar and take the anonymous survey prior to the workshop on September 13th. Survey here: https://www.surveymonkey.com/r/QGJ52KK

To our Usher syndrome community: Representation equals research motivation
As a Rare Community we need to demonstrate our support by showing up for significant efforts like these if we expect the research community to continue to invest time and money into finding a treatment. This is your opportunity to participate, have input and learn about the latest therapeutic strategies from the world's leading researchers. Please share or forward this to anyone who might be interested. If you have any questions, please feel free to reach out.

Workshop Information

Foundation Fighting Blindness Statement & Information

Take Pre-Workshop Survey

Perspectives of Caregivers and Affected Individuals With Usher Syndrome Type 1B (Ush1b)

Register now for workshop webinar:

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Leilla Kenney: lkenney@fightingblindness.org

The faces behind RP Hope, Save Sight Now, and Sofia Sees Hope are all immensely dedicated to their nonprofit’s missions. The inspiration behind these organizations is similar, but their story and commitment are uniquely personal.

The Foundation wants to thank each of these organizations for their collaboration and for using their individual journeys to advocate for blinding diseases. We are stronger together – as a community.

Justin and Rosalyn Porcano welcomed their baby girl Lia into the world in March 2018. Shortly after her birth, Lia failed her newborn hearing test, diagnosing her with profound deafness. Luckily, Lia qualified and received cochlear implants a few months later. But in August 2018, Lia’s genetic testing results concluded that she was also going blind due to Usher syndrome type 1B with variants in the MYO7A gene.

“Lia’s diagnosis was devastating,” says Justin. “It’s indescribable what it’s like to find out your daughter is going blind, and that looming feeling doesn’t fade.”

A few weeks after receiving the shocking news, Justin started researching applicable treatments for Lia, learning there are cures on the way, but that USH1B is more severe and progresses quicker than other types of Usher syndrome. Immediately feeling a sense of urgency, Justin and his wife Rosalyn knew they needed to be proactive and help.

“It didn’t make a lot of sense for us to try and run our own standalone nonprofit as parents of a young child with significant needs while simultaneously educating ourselves on Usher syndrome research,” says Justin. “So, we looked to partner with existing nonprofits, and couldn’t find anyone we aligned with until we found the Foundation Fighting Blindness.”

After finding the Foundation, Justin and Rosalyn started their organization, Save Sight Now. Their mission is dedicated to raising funds to support Usher syndrome type 1B (USH1B) and retinitis pigmentosa research. Branding themselves as a “mom and pop charity,” Justin and Rosalyn have been able to leverage their local North Bay Area community to raise awareness and funds but have also connected with others in the Usher syndrome community across the world.

“Taking action and starting Save Sight Now has been our coping mechanism,” says Justin. “As a father of a child affected, how can I not do everything I can. I have to be the one to learn and help. Parent-led organizations like ours are so important and can really drive the research.”

“As a father of a child affected, how can I not do everything I can.”

— Justin Porcano, Co-founder of Save Sight Now

Save Sight Now has been in operation for just over two years and has already raised just under half a million dollars. Their very first fundraiser was a crowdfunding video sharing their family’s story, which alone raised $200,000. In 2020, Justin and Rosalyn created a virtual event called Gift of Vision, which will be their annual event moving forward. Save Sight Now has also just launched a new evergreen fundraising campaign called USH Supporter Events, encouraging personal do-it-yourself (DIY) fundraising for their supporters.

In addition to managing Save Sight Now, Justin works full time, and his wife Rosalyn works part-time. Justin is also a member of the Foundation Fighting Blindness Board of Trustees. But despite their busy lives, they’ve both become extremely knowledgeable about USH1B research.

Justin has discovered and directly contacted many research leaders in the space. Dr. Shannon Boye, at the University of Florida, was one of the first researchers Justin got in touch with early on in his learnings, and now she’s very involved with Save Sight Now often acting as an educator and advisor.

“Letting these researchers know that the parents are behind them is extremely valuable in motivating their work to continue their efforts,” says Justin. “I don’t think enough parents realize that they matter and can make a difference.”

Justin and Rosalyn often feel like they’re in a race against time for Lia, but starting Save Sight Now has given them a glimmer of hope.

“Very encouraging research is advancing, but not quick enough,” says Justin. “The science is there, but the funding is not. Our money is going to promising research, and that’s what keeps us going. There are therapeutic treatments on the horizon, and we feel it’s our responsibility as parents to help these dedicated researchers cross the finish line any way we can.”

Article by the Foundation Fighting Blindness - Full Beacon Stories article HERE

We just launched our new USH Supporter Events campaign. USH Supporter Events are personal fundraisers hosted by individuals (or teams) like yourself. It is a simple online platform that allows Save Sight Now supporters to customize a profile page and create whatever type of event you want - run/walk, bike, camp, bake, craft, golf, host a birthday fundraiser or invent your own – whatever works for you. Participating in an upcoming event like a marathon or golf tournament? Whatever your strength may be, you can use it to help Save Sight Now find a cure for childhood blindness caused by Usher syndrome.

How to create your fundraiser event page:

• Create an account and login

• Add a profile photo

• Write a brief description of your event

• Add your story

• Set a fundraising goal and time duration

• Share it

Get Started!

Thank you for continuing to support us and our mission of curing childhood blindness due to Usher syndrome. Small parent-lead charitable organizations only exist because of the kindness and generosity of people like you. We created this platform because at least once a week we hear supporters and parents say, “I wish I could do more” or “how else can I help” – and we often struggle to offer attainable options that appeal to individual’s specific capabilities or busy schedules. However, we now have a simple and impactful solution - USH Supporter Events.

We can help you build your page, or build it for you! All donations raised for Save Sight Now go directly towards funding promising Usher syndrome research that can save Lia’s vision and thousands of other children progressively losing their sight.

To learn more please visit USH Supporter Events or contact Justin Porcano - justin@savesightnow.org

Thank You,

With your support and the help of 203 Gift of Vision guests we raised over $150,000 during our virtual fundraiser! We were blown away by all the support and love. Guest appearances included Stephen Curry, Brett Dennen and our talented auctioneer and MC the Principal Auctioneer. This was the first live virtual event we’ve hosted and you helped make it a success. Even though we couldn’t be together in person we felt so fortunate to connect with you online.

2020 was a difficult year for everyone. Small research driven foundations were hit especially hard because of the enormous amount of projects and resources that were diverted or paused in order to support COVID-19 efforts. We’ve lost time and funding, but with your generous donations from this event we can hopefully make up for it in 2021.

Thank you to everyone who attended our virtual event and contributed to our mission of finding a treatment for childhood blindness associated with Usher Syndrome.

Gift of Vision | December 3rd 2020

Night-of Gift of Vision Event [Video]

For those who couldn’t attend the event or just want to re-watch it.

Grant Recipient

We are so excited to share with you that Martha Neuringer’s program at OHSU Casey Eye Institute is the recipient of Save Sight Now’s 2019 Grant. The $285,000 grant will continue funding the development of genetic engineering tools needed to create a Non-Human Primate (NHP) model of an inherited retinal disease. This program seeks to create an accurate model of Usher Syndrome Type 1B in non-human primates, confirm how closely it resembles the human disease, and use the model to test a new type of Dual-AAV gene therapy. 

Our grant will help sustain this program for up to three years; and it’s because of the support and generosity of our 1,105 donors. Their donations will translate into significant impact helping thousands of Usher Syndrome children and adults who are rapidly losing their vision. The innovative gene editing work being created and tested in this program will also have far-reaching impact that goes beyond Usher Syndrome and other retinal disorders.

“This project achieves both the creation of a necessary accurate animal model of USH1B using gene editing tools AND supports a new large gene therapeutic approach for treating a disease.”

Martha Neuringer Ph.D. and Shannon Boye Ph.D.

Why This Program Is So Significant

The Foundation Fighting Blindness Scientific Advisory Board highly recommended supporting Dr. Neuringer and her team to generate an Usher 1B animal model, noting that “successful production of an NHP (Non-Human Primate) model of USH1B with a retinal disorder will immediately trigger more Usher Syndrome studies aimed at correcting the disease.” It is important to note that while the goal of this project is to generate an accurate animal model for Usher Syndrome, the project also plans on testing Dr. Shannon Boye’s dual-AAV gene therapy strategy. This project achieves both the creation of a necessary accurate animal model of USH1B using gene editing tools AND supports a new large gene therapeutic approach for treating a disease.

genetically targeting Ush1B’s two major hurdles:

1. There is no accurate animal model for testing USH1B treatments

   Currently it is only possible to test the safety and delivery of USH1B treatments in animal models, but not the effectiveness of the treatment as it relates to humans. Myosin VIIa – the gene responsible for causing USH1B in humans doesn’t play the same functional role within the retina of any known animals except primates. However, Usher Syndrome is not a naturally occurring disorder within primates. So, Martha Neuringer’s team at OHSU is using a CRISPR gene editing technique to alter the Myosin VIIa gene in primate embryos in order to create an animal model that accurately expresses the Usher Syndrome 1B phenotype (symptoms) from birth.
   

2. An USH1B genetic treatment has no delivery system

   In order to deliver a corrected gene (“treatment package”) you need a delivery system that is effective at infecting cells – like a virus, but without its pathogenicity. USH1B is a large gene – too large to deliver using the current gold standard and only proven gene augmentation delivery system approved by the FDA - a Single-AAV (adeno-associated virus). Dr. Boye’s strategy uses a new Dual-AAV delivery system which attempts to solve the size issue by splitting the gene in two parts and delivering them separately. The two halves then reconstitute within the retina to form a whole properly functioning gene.

Overview
Proven system / ush1b problems / Proposed Solution

Medical Impact Beyond Usher Syndrome

Myosin VIIa - the gene associated with Usher Syndrome Type 1B has two major gene editing hurdles that are relevant to other ocular genetic diseases and beyond: it’s too large for current gene editing tools and there is no existing ideal animal model that accurately expresses the disease phenotype for testing pre-clinical treatments . Many other Usher Syndrome types like USH2A and USH1F also have a large gene problem, and lack a good animal model for testing as well. These two significant challenges aren’t only common in ocular genetic disorders, but also many other neurological and hematological diseases. Martha Neuringer’s innovative strategy is attempting to use CRISPR-cas9 (gene editing tool) to alter the DNA (Myosin VIIa gene) of a NHP (Non-human primate) embryo in order to create an ideal animal model from birth that accurately expresses the same disease symptoms as seen in humans. The gene editing tools and processes her team are creating - if successful - will theoretically be repeatable for any disease in need of an accurate animal model.

Shannons Boye’s Dual-AAV strategy is an attempt to overcome the large gene delivery hurdle. Her methodology proposes cutting the gene at an ideal location in order to create two small packages for easier delivery within a new hybrid AAV vector. Once administered to the retina the two halves of the gene recombine to form a whole functioning gene and ideally halting retinal degeneration. If this methodology is successful it lays the foundation for a reproducible blueprint for delivering any large gene that causes retinal disorders and theoretically for any other genetic disease with a large gene obstacle.

Pushing Forward

Even though this program holds incredible promise our work is far from over. The successful editing and birth of a genetically engineered USH1B model is difficult (to say the least) and has yet to be demonstrated, and the Dual-AAV strategy still has to be proven before even preparing for clinical trials. Clinical trials are incredibly expensive and this work is never guaranteed. Anyone who has Usher Syndrome Type 1B or any family member with a loved one who has USH1B knows the reality and pain of a failed clinical trial because of the unsuccessful 2017 UshStat trial. Usher Syndrome researchers learned a lot from that trial, but it serves as a constant reminder that we can’t count on one therapeutic strategy. We have to constantly be identifying and supporting new strategies and research programs in order to ensure we’ll find a valid treatment in time.

What’s next

We raised $285K in our first year. We originally had a goal of $2 million in 2 years, but COVID-19 has drastically impacted our ability to fundraise and significantly slowed research. We have a long way to go to hit our goal, but we are hopeful we can raise enough funding this year to make another substantial contribution to medical research. At the end of this year the process of selecting the most promising USH1B and Retinitis Pigmentosa research programs will begin again. In February 2021 The Foundation Fighting Blindness Scientific Advisory Board will begin a thorough 4 month long grant review process in order to identify the research team that has the greatest potential for therapeutic success; and that’s who we’ll be supporting.

Thank You

We can’t depend on pharmaceutical companies or the NIH to fund rare disease research for disorders like Usher Syndrome, that burden falls on the shoulders of parent lead organizations like Save Sight Now. This past year we asked for your support in sharing that burden, and you did, in a big way. Thank you to all of our family, friends, friends-of-friends and strangers who supported us, trusted us and donated. We are humbled by your generosity and we are so incredibly grateful for your support. We hope you continue to believe in us and our mission because we cannot do this without you.

Thank you to everyone we have worked with at the Foundation Fighting Blindness, you are the most reliable and informed partner we could have hoped for.

Self-reflection is a valuable tool for learning and evolving, and after not being able to connect with our USH1B rare community as we had hoped, we conducted a survey to better understand why; and learn how we could potentially increase family engagement.

We started Save Sight Now - a patient lead research organization - to act as a conduit for USH1B families to ensure their donations reach the most promising RP/USH1B researchers; and to act as a communal fundraising platform for all families to leverage, feel a part of and contribute to at any level.

In the rare disease space, there are over 7,000 rare diseases competing for attention; and not nearly enough researchers and funding to address them all. Patient lead organizations backed by their rare community who are organized, motivated, loud and persistent are the only ones who drive progress for their disorder. In order to accelerate research we need support from our USH1B community. Applicable treatments exist today, but it’s up to us to ensure Usher Syndrome Type 1B is a funded target for new medical strategies.

Survey Results

Below are the survey results. It’s important to note that we only asked individuals who are directly impacted by Usher Syndrome Type 1B. This includes individuals living w/ Ush1B, Mom, Dad, Grandparents and other caregivers. Only 34% of families who were contacted or made aware of the survey responded and 95% of everyone polled was familiar with Save Sight Now and past fundraising events. In the following sections we’ll summarize our high level take aways from these results, offer some feedback and share how we plan on making these learnings actionable moving forward.

Overall Response rate

While this stat is not ideal, it was better than what we expected. It represents a small but mighty group within the USH1B community whom we look forward to working with.

Who Responded to the survey & how many supported campaigns

We learned that moms were the most engaged and a fair amount of grandparents were engaged as well. We also learned that 27% of people surveyed did not support fundraising campaigns by promoting or donating which is a disappointing stat.

Common Reasons for not supporting

27% of respondents did not support SSN - these were their most common reasons: 1) I’m supporting another organization and 2) I’m not living in the US.

Treatment Importance vs. Involvement Interest

Finding a treatment is incredibly important for a high percentage of the community, especially everyone we surveyed with USH1B. Although the interest to get involved isn’t as great as the importance for finding a treatment, it still reflects a significant desire to help Save Sight Now.

How I’d Like to Get Involved

This is the most impactful data we collected. It represents a significant amount people who want to help, but just need some guidance and options.

Summary

Overall we recorded low USH1B community engagement - obviously not what we were hoping for, but in line with what we have been experiencing. Less than 40% of the community we have exposure to supported Save Sight Now fundraising campaigns, which was in stark contrast to the high importance the majority of individuals placed on finding a cure or treatment. We see this as an opportunity for growth. If the majority of the USH1B community is prioritizing a treatment, but not supporting the only USH1B research focused organization, perhaps we need to do a better job of sharing our strategy and mission. Even though we would reach our goal faster with more support from our USH1B community we are thankful for those that responded and who want to actively be involved. We don’t need 100% participation from our community to make a significant impact.

We learned that the two most common reasons for not supporting SSN are that people were supporting another organization or did not live in the US. We think it’s possible and necessary for our USH1B community to support multiple Usher organizations; and degrees of support can vary depending on personal prioritization. Some organizations focus on education, support and advocacy while others focus on medical treatments. We think all are important which is why we promote and support all other transparent Usher organizations.

We also learned that some of the USH1B community felt they couldn’t support or promote SSN because they live outside of the US. We actually had many non Usher Syndrome community supporters from outside the country donate and promote during our campaigns. We understand there is an extra layer of difficulty when recruiting support in another country, but that’s one of the reasons we partnered with the Foundation Fighting Blindness - the worlds largest international IRD foundation funding research. This partnership strengthens SSN’s credibility as a valid and international organization. USH1B effects thousands of people outside of the US and we all share a common goal regardless of where we are in the world. The internet has no borders and neither should our reach. We’ll be focusing on addressing this issue.

This survey was incredibly valuable and educational for our organization. It gave us insight into what percent of the USH1B community wants to be involved - and how. It exposed some gaps in our messaging strategy and confirmed that we still have a lot more to do.

Next Steps

We’ll be reaching out to everyone who left their contact information and wants to actively be involved. We’d like to understand everyones comfort level in regards to how they would like to support. We also discovered that there are individuals who would like to be on the board of SSN and we are more than happy to discuss what that entails. In the next couple of weeks we’ll be creating some high level ‘how-to’ information in regards to supporting campaigns, hosting campaigns and how we can help with all of it. Thank you again to everyone who participated!

If you would like to be involved, but didn’t leave your contact information please feel free to reach out to us here: justin@savesightnow.org or you can send us a message on Facebook.

“The Future depends on what we do in the present”

— Mahatma Gandhi

We have all been impacted by this unprecedented pandemic in many different ways.  For those of us working tirelessly to push Usher Syndrome research forward, this has significantly set us back. Rapid retinal degeneration in our children doesn’t pause while research does; which is why we can’t afford to wait. We’re asking for your help to reduce the impact of this setback and help us regain the time we’ve lost.

It’s not easy to ask for help at a time like this. However, our research community who receives funding from non-profits are not only struggling to keep the lights on, but are at risk of losing existing work. It takes a dedicated research team to keep cell cultures, zebra fish and mice models alive, as well as observe and document progress with in-flight experiments and tests.

In an effort to promote unity and support struggling non-profits, a global day of giving will take place this Tuesday May 5th. #GivingTuesdayNow is an emergency response to the unprecedented need caused by COVID-19. I know some of you can’t afford to help at this time, but for those who can, we are grateful for any support – $10 - $100 – every dollar helps us get through this.

Thank you for all your support.
Please Take care of each other.

Justin