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:

When individuals or families are told about the Usher diagnosis, the first question they have is, "What treatments are available to stop the vision loss?" Currently, there are no treatments, but we are at a pivotal moment in the history of Usher syndrome. For the first time, there are several clinical trials taking place! This is incredible! We know it takes millions of dollars to get through the many phases of testing gene therapy, medicines and devices. And yet, when the Usher Syndrome Coalition was established, we were asked to play another, crucial role in supporting and accelerating research - and that is to find and build the Usher community worldwide. 

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. IF a clinical trial cannot find enough participants, the trial will stop. That's correct. We're not being dramatic. We've seen this actually happen in other rare disease communities. There are strict rules that researchers have to follow in order to prove the efficacy (ability to achieve the intended result, for example slow vision loss, restore hearing, etc.,) and safety of the treatment they're testing. They can't just test it on one or two people and feel confident that it's safe. They need a large number of candidates. And that's why the USH Trust is so important. When thousands of individuals living with a syndrome or disease are willing to share their information and possibly participate in research, they help to accelerate (quicken) 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 trial? 

A clinical trial (also called a clinical study) is a carefully designed and regulated research project where scientists test whether a new treatment is safe and effective for humans. Researchers first identify the genetic changes (also called variants or mutations) in a specific section of a gene that is causing the gene to function differently. The gene's internal instructions may have a "spelling error," or maybe the instructions have been completely left out. These changes 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 from happening, thus preserving whatever vision is left, or, possibly reversing the vision loss.

How do clinical trials make sure that the process is fair and ethical?

You may read that a study is double-masked and randomized. "Randomized" means participants are placed into one of two groups in no particular order and with no specific requirements for either group. Another word for randomized is arbitrary. 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, and that the doctors and the patients are focusing on the actual, measurable results and not on their hopes and opinions.

Clinical trials - or any research involving humans - must follow rules established by governing bodies that protect people from dangerous or harmful treatments, or treatments that they don't want to have. The rules require that all information is presented in language that is easily understood by the participant; that children, pregnant women, people with disabilities, and prisoners are "protected" from being used for research without their permission; that participants can stop participation at any time with no penalties or negative consequences; that participants are not "coerced" or feel forced to participate; and other requirements.  

Why is enrollment so important and so hard? 

Children and adults with Usher syndrome are often invisible. They are living their best lives in every community around the world. Some don't know they have Usher syndrome. Or if they know, they don't want others to know. So, they go to school, attend university, learn trades, work, date, live with family or by themselves, marry, raise children. They blend in with their neighbors, never thinking that there may be an awesome Usher community ready to welcome them because they have been told that they will probably never meet another person with Usher syndrome.

At the same time, researchers have been working for decades to identify the gene variants that cause Usher syndrome and to create treatments they believe will work. Researchers are experts on the genes that cause various conditions, but, interestingly, often don't personally know many in the community they're serving, or may only know the small group of patients they work with. And when the time comes to launch a clinical trial, they may struggle to find enough participants with Usher syndrome. That's when they need an organization like the Usher Syndrome Coalition to connect them with a large number of children and adults living with Usher. 

For nearly 2 decades, the Usher Syndrome Coalition has worked tirelessly to build the Usher community worldwide. No other organization in the world is exclusively dedicated to this goal 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 and their famlies around the world. We bring the community together, in person, at our bi-annual conferences. We chat with you through our online forums. We share information on social media. We send out monthly newsletters. We build local Usher syndrome communities through our USH Ambassadors. 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 does 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. 

When a researcher is planning a clinical trial, they can partner with the Coalition to find out if there are enough potential participants, to recruit participants, and to decide where clinical trial sites should be set up. The Coalition can pull data (without your name) to help them make those decisions. 

We need EVERYONE with Usher who's interested in research to join the USH Trust. This is important because not everyone will qualify for every research project. You may have read the words "inclusion/exclusion criteria." Some people may have the right type of Usher, be the right age, have the right amount of vision/vision loss, live near a clinical trial site, but still may not qualify for a clinical trial. Some reasons that would exclude participation in a clinical trial might be that you have participated in another clinical trial (that could confuse the results of the new clinical trial); that you have another eye condition on top of RP; that you have other health conditions that might also impact your eye health; or that you are pregnant and need to check to see if the treatment might harm your baby. Each clinical trial has its own list of "inclusion" and "exclusion" criteria or rules. These rules further reduce the number of potential participants in a trial. Thus, the USH Trust becomes a super important tool to help find enough candidates. We use the USH Trust to invite potential participants to webinars to learn more about specific clinical trials, inclusion and exclusion criteria, etc. If you're "in" the USH Trust, you're in the know. 

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 (USH1B, USH2A, etc.). Other studies are gene agnostic, meaning that they apply to anyone with a confirmed diagnosis (like RP) no matter which gene variant caused it. 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 can move to Phase 3. That 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. This needs to change. No one with Usher should live in isolation. Every person should have the chance to meet and join their community, if they so desire, whether they are interested in research or not. Sign up now at https://www.usher-syndrome.org/sign-up/ or email us to see if you already joined.

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.