May 12th Researcher Conference Update
April 29, 2009
By Mark Dunning
A dozen of the leading Usher syndrome researchers will be meeting in Boston on May 12th. It's a small group, but that's a good thing because the goal is to come out with some recommendations to present to the larger community. In particular, we will be focusing on identifying Usher families and engaging them in the research process.
One of the biggest problems we face in research is finding candidates for a particular study. Studies often require not only a particular type of Usher syndrome, but a particular age group, amount of usable vision, rate of deterioration, and natural history. Usher syndrome is a rare disease to begin with so such culling can quickly shrink the available pool of candidates to a size that sinks the study.
To combat that, we need to not only identify every single person with Usher but we also need to engage them in the process so that we don't lose them. Simply identifying a worthy candidate to participate in a study does not good if that candidate is no longer reachable.
We'll spend a lot of time in this blog talking about the ways that we can 1) keep families engaged and/or 2) stop driving them away. The conference on May 12th will be in part about just those things. The goals of the conference will be:
- A standard protocol for identifying kids with Usher syndrome through the newborn hearing screen.
- A standard protocol for identifying suspected adolescents and/or adults.
- A standard approach for molecularly identifying currently diagnosed Usher patients that have not been confirmed genetically.
- The creation of a voluntary registry for patients where we capture demographic information and some basic natural history information supplied by the patients. (There will be more on this in later posts.)
- Standards for testing that could be shared between researchers. So if patient A is in Study B and Study C, patient A only has to have an ERG for Study B which will then be acceptable for Study C. Right now patient A usually has to submit to two ERGs which often drives away the patient from one or both studies.
These recommendations will be debated among the larger group in the monthly conference calls with the hope that they will be ratified and committed to by all member organizations by the fall.