In December 2021, the Usher Syndrome Coalition announced an exciting “first” for the Usher community. ProQR, a biotechnology company based in the Netherlands, would be sponsoring a final phase clinical trial to test a treatment to slow or stop the progression of vision loss in those with Usher type 2A, exon 13. Recognizing the important role that the Coalition plays in finding, educating, and supporting the Usher community worldwide, ProQR asked for our help with outreach and education. Thus began an incredible partnership between the Usher Syndrome Coalition and ProQR.
Over the next few months, there was an overwhelmingly positive response from the community. Individuals living with Usher syndrome around the world and their families contacted us and ProQR to learn more, and find out how they could join the trial. The Coalition hosted a webinar, answered emails and phone calls, and connected the Usher community with the resources they needed.
In the 12 months since ProQR’s announcement, an unprecedented 450 people joined our USH Trust - the largest number of new registrants in one year in our 10-year history. Clearly, the community was excited and wanted to be kept “in the know.”
Unfortunately, a series of events unrelated to Usher syndrome led ProQR to suspend the trial. They are now working to identify a new company that can take on this study and bring it to completion. The Usher community is clearly eager to participate in research. This “pause” provides us with a unique opportunity to regroup and build the community.
What we learned from this experience
Researchers have told us that no matter how much money is raised, clinical trials cannot succeed without a robust pool of potential study participants. This is where the Usher Syndrome Coalition comes in. For more than 10 years, we have been building the free and confidential USH Trust for children and adults living with Usher syndrome worldwide. Now is the time to join:
1) By joining the USH Trust, you will be the first to know about the latest research. As soon as we learn about research opportunities, we will share them with those in the USH Trust.
2) If you have not yet had genetic testing, now is the time to get it done. Those who are interested in possibly participating in clinical trials, will be required to show proof of their diagnosis of Usher syndrome. Genetic testing is the only way to do this. The process can take several months. When you receive the results of your test, make sure to update your information in your USH Trust account.
3) If you are already in the USH Trust, log in to make sure we have your preferred email address, your birthdate, and your type/subtype, if known. If you don’t know which type of Usher syndrome you have, you can still sign up - just check “unknown.” We will soon be adding a few more questions so that we can learn more about you and make better “matches” between families and individuals with Usher.
4) If you have friends, family, or colleagues with Usher syndrome, please encourage them to register in the USH Trust. Registration is free, simple, and quick.
5) If you are passionate about supporting and accelerating research and treatments for Usher syndrome, you will definitely want to join the newly launched Usher Syndrome Data Collection Platform (DCP), hosted by RARE-X. This free and confidential database, designed specifically for rare disease communities like ours, allows you to securely enter and update your detailed records and symptoms at any time. You manage who has access to your de-identified data, including a broad cross-section of researchers worldwide. Participation in the DCP will lead to “more eyes” on the Usher community, increasing the potential for clinical trial participation. You won’t want to be left out!
If you have questions or need assistance, contact Nancy O'Donnell, at firstname.lastname@example.org, (800) 946-9203 Option 1, or VP: 631-533-9621
The Usher Syndrome Coalition is working every day to build the Usher community. Together, let’s make Usher syndrome history!