Join the USH Trust to Accelerate Research

Accelerating Research, Building the Usher Community, One Person at a Time

Why is the USH Trust Critical to Research?

The Usher Syndrome Coalition's "USH Trust" is the largest international contact database of individuals with Usher syndrome. Those who join the USH Trust are the first to learn about the latest research opportunities. But it is also our most powerful tool to accelerate research. Here's how:

Finding enough participants for a clinical trial is one of the biggest challenges in medical research, especially for rare diseases like Usher syndrome, where low numbers of people are affected. We've learned from other rare disease communities that when individuals living with a syndrome or disease are willing to share their information, they help to accelerate the development of new treatments. (Remember - your personal information stays with us but your Usher type and other "demographic" information is combined with others to get The Big Picture.) That's incredibly powerful.

What is a clinical study? A clinical study (also called a clinical trial) is a carefully designed research project where scientists test whether a new treatment is safe and effective for humans. Most of the studies taking place now for people with Usher syndrome are focusing on the vision loss caused by RP. Researchers will identify the genetic changes, also called variants or mutations, in a specific section of a gene that is causing the gene to function differently. Genes are like instruction manuals inside our cells. When part of an instruction is written incorrectly or is completely left out, it can cause hearing loss, vision loss, and/or balance issues (as in Usher syndrome), or other symptoms in other syndromes or diseases. Many current studies are testing drugs or editing genes to see if they can stop or reverse vision loss from retinitis pigmentosa (RP). Remember - in RP. photoreceptors, or light-sensitive cells in the eye slowly stop working over time. Researchers are working to stop that decline in vision.

You may read that a study is double-masked and randomized. "Randomized" means participants are arbitrarily chosen and placed into one of two groups. One group receives the treatment being tested, the others receive a sham (also known as a placebo or an inactive treatment), which does not have any of the treatment and will not cause harm. "Double-masked" means neither the patients nor the doctors know who received the treatment and who received the "sham." This helps make sure the results are fair and accurate.

Why is enrollment so important and so hard? 

The Usher Syndrome Coalition has worked hard to get to know the Usher community worldwide. Researchers have worked for decades to identify the genes that cause Usher syndrome and to create treatments they believe will work. Researchers are experts on the genes that cause various conditions, but, interestingly, usually don't personally know the community they're serving. They need an organization like the Usher Syndrome Coalition to connect them with children and adults living with Usher, and their families, around the world. NO other organization in the world is exclusively dedicated to getting to know YOU, the Usher community, like we are. We have met you through email, phone, Videophones, text, Zoom, and in person. Every year, we meet, chat with, and support hundreds of individuals with Usher syndrome around the world. Pretty amazing for a small nonprofit, right? But this is a testament to YOU, the Usher community and your desire to learn, connect, find treatments, and live your best lives. We want that for you too. And so, we encourage every person with Usher to join our simple, free, and confidential USH Trust - our most powerful tool to accomplish your goals.

How did the USH Trust help? Some call the USH Trust a patient registry - a contact database where people with a specific condition can sign up and share simple demographics - your name, where you live, your date of birth, your Usher type (if you know it). We do not require genetic confirmation of your diagnosis. In many countries, that is just not available. And so, we want you to sign up if you've been "clinically" diagnosed (your doctor says you have Usher syndrome), or if your history and symptoms suggest you have Usher syndrome. If you have genetic confirmation of your diagnosis - great. You can indicate that with a simple yes/no question

Why is genetic testing important?

As we've mentioned, if you want to participate in studies or clinical trials, a genetic diagnosis is crucial. Why? In rare cases, individuals who seem like they have Usher syndrome find out that they do NOT have Usher. In other cases, individuals learn that their RP is caused by a gene that usually causes Usher syndrome, but they do not have hearing loss! Interesting, right? 

The USH Trust has been a key tool in finding the right participants for clinical trials. Some trials are gene-specific, meaning they only apply to people with a specific variant. Other studies are gene agnostic, meaning that they apply to anyone with a condition (like RP). If you are in the USH Trust, you'll be contacted by us about both types of studies. 

Here's an example of how the Usher Syndrome Coalition and researchers work together. Sepul Bio, which is conducting the LUNA clinical trial, partnered with the Coalition to do their outreach. We used the USH Trust to contact hundreds of individuals and families with information about the trial. Our outreach led to over 95 direct referrals to clinical sites. Here's what Andrew Bolan, Patient Advocacy Director for Sepul Bio said about the USH Trust: 

“The USH Trust played a crucial role in helping the research team reach a highly relevant and engaged USH2A exon 13 community, significantly enhancing both the effectiveness and educated nature of the recruitment project. It has been positive to see how engaged and informed the community has become. Being part of the USH Trust has led to a lot of the community knowing their own genetics. This plays a key role in enrolling in clinical research, such as the LUNA clinical study, which is gene-specific. However, it has also been heartening to see motivated USH families want to know more about their own genetics and how to enroll in future research. Knowing your gene and the cause of your Usher syndrome play a central role in engaging with research like that of Sepul Bio.”

What happens next? After researchers get enough people to sign up for their clinical trial, research teams can focus on running the study and analyzing the results. After Phase 2 (human participation) of a study is complete, and the data shows that there were no harmful effects, the study moves to Phase 3 . This is the final phase before a treatment can be considered for approval and made available to the public. That phase will need even more community members to participate.

The Usher Coalition is deeply grateful to everyone who has joined the USH Trust. There are at least 400,000 people with Usher syndrome, worldwide. Most of those people have no idea that they have Usher syndrome, or have been told of their diagnosis and have never met another person with Usher. These scenarios can be changed. No one with Usher should live in isolation. Every person should have the chance to meet and join their community, if they so desire. Sign up now at https://www.usher-syndrome.org/sign-up/ 

Want to learn more about how clinical trials work? Visit: https://www.usher-syndrome.org/research/clinical-trials.html

Frequently Asked Questions:

To learn more, watch the Usher syndrome onboarding webinar with RARE-X.