Why We Need an Usher Syndrome Registry

January 21, 2011

by Mark Dunning

Let's start with some good news. There are a number of treatments nearing clinical trial that could potentially help people with Usher syndrome. There are an even greater number of areas of interest that researchers think might be the source of future treatments but which are as of yet fairly unexplored. In other words, there's a lot of hope for the future for families with Usher syndrome.

But the pace of discovery is slow, much slower than most families would like. I won't discuss all of the reasons here today, because there are a lot. Instead, I'm going to focus on one of the main reasons: 

Researchers have access to too few Usher syndrome patients and have too little information about most of those to whom they do have access. 

Now, again, there are reasons why we know such a small percentage of information about a limited number of Usher families and, again, I'm not going to get in to that today. Today is about one step to solving that problem.

The idea is to create an Usher syndrome registry with the grand goal of identifying everyone with Usher syndrome in the world. OK, so we won't actually find everyone, but that really is the goal. After all, how can we help them if we don't know who they are? 

The registry would be voluntary and secure. A family would only have to submit what they were comfortable submitting. At a minimum we would need a name, type of Usher, and a means of contacting the person. Families would be given the option to supply more demographic information if they chose (address, age, place of birth, doctor's name, etc.) In keeping with HIPAA guidelines, information that would allow viewers of the data to identify an individual would be accessible only on a need to know basis by the few people that administer the registry.

Once we gather this pool of Usher patients, researchers could begin to ask them questions via questionnaires. The information gathered would help us to learn about the true nature of how the disease works. For instance (and I'm making this up here), a question about how many apples you eat a day and a question about your rate of vision loss might just show that people that eat more apples appear to have a slower rate of vision loss. If we were able to ask that question of everyone with Usher syndrome, we'd have a pretty good idea if apples would be worth investigating as a potential treatment for the vision loss component of Usher syndrome. Again, I making this up. We have no idea if apples help. But that's the point. We have no idea because we have no means of asking the question. A registry would give us that means.

Questionnaires would be subject to strict review before they were presented to families. An Institutional Review Board (IRB) made up of well respected, experienced Usher researchers as well as Usher families would scrutinize the questions, the purpose, and the value of the questionnaire. Once approved, registered families would be given the option of filling out the questionnaire. They would not be required to do so. And, again, the researchers would have no access to the registry information so they could not coerce anyone to fill out a particular questionnaire.

Data gleaned from these questionnaires would be available to any credible researcher. Again, a request for data would have to be approved by the IRB but the data would be owned by the families, not by any institution or researcher. We want as many researchers to have as much data as possible. Limiting access only limits the pace of treatment development.

As clinical trials begin for treatments, researchers could ask the IRB for the right to contact potential candidates in the registry to gauge their interest in participating in the trial. The researchers would never be given demographic information, however. In keeping with HIPAA requirements, they could request that the administrators of the registry contact individuals that meet certain criteria (age, type of Usher, location, etc.). The researcher would be asked to develop a one page document describing the trial and the participation requirements. This would be given to the registry administrators. The administrators would pull the appropriate list and the administrators, not the researcher, would send the families information about the trial along with the contact information for the researcher. It would then be up to the family to determine if they wanted to contact the researcher or not.

So let's look at where this registry gets us:

  1. Families know that they will hear about any treatments going to trial that might be appropriate for them.
  2. Families can not only contribute to the search for treatments, they can increase the pace at which they are found simply by sharing information about themselves.
  3. Researchers can have access to information about Usher syndrome and have a means for answering questions which does not exist today.
  4. Funding for research would be easier to attain because researchers would be able to better demonstrate the potential correlation between a particular activity (eating apples, say) and a positive outcome (better vision longer).
  5. Pools of potential candidates for clinical trial would be readily accessible.


But wait, there's more. This registry could also be used to connect families. The Usher Syndrome Family Network could be incorporated in to the registry. A family that registers could choose to share the contact information automatically with other Usher families. And because the registry is secure, they could choose to share it with only certain Usher families (only families with children under 5 or families in the US, for instance). Better still, since the registry would be accessible online, a family could change its mind at any time and decide to no longer share certain information or to begin sharing certain information. 

Beyond research, such a registry could be used to contact families about conferences or support networks or just about anything else deemed appropriate. But, again, any contact with the families would have to be approved by the IRB so people in the registry don't get spammed and the communication would come from the administrators to protect the identities of the families. 

Can you tell that I like this idea? It addresses the fundamental problem of access to information for both families and researchers. If it's done right, it can not only be secure and safe but it could also accelerate the pace of discovery and help bring treatments to our loved ones more quickly.

Update: The International Usher Syndrome Registry is now available. Join here

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