A National Down Syndrome Registry
By funding research projects that have identified the first six drug targets associated with impaired cognition in Down syndrome, DSRTF has moved Down syndrome cognition research to a point where it is realistic to start considering the next steps necessary for clinical trials.
What is a Registry and Why is a Registry Useful?
A registry is a collection of data about individuals with similar characteristics, in this case, individuals with Down syndrome. By filling out a profile and contributing information, individuals help complete the picture of the community. In return, registration typically offers access to information about new treatments and trials, education about Down syndrome and may even provide access to local and regional resources.
Registries are even more useful if they are part of a bio bank for which bio-specimens, such a blood or saliva samples, are taken from individuals and their parents. These samples can then be used by the clinical and research community to better understand the biological pathways that are involved in Down syndrome-associated birth defects and medical conditions. Sharing samples minimizes the burden on families and maximizes their research potential.
The DS Registry Opportunity
Currently a national, central registry of individuals with Down syndrome does not exist, but a project-based registry developed jointly by Emory University and Johns Hopkins University has the potential to provide the basis and model for such a registry. Dr. Roger Reeves and his multi-site team from institutes in Baltimore, MD, Washington DC, Atlanta GA and Portland OR are conducting a study to identify genetic and environmental risk factors for the atrioventricular septal heart defect (AVSD), which is 2000 times more likely to occur in children with Down syndrome. Participants in the study have agreed to provide access to medical records, give blood samples from the individual with Down syndrome and saliva samples from their parents. Parents also complete a telephone questionnaire that covers heath history and environmental exposures.
Many of the families who have participated in the heart registry are among the first to experience the battery of cognitive benchmarking tests developed by researchers at the University of Arizona. These participants are helping the scientists to refine the tests so that they measure a wide range of abilities and will be effective at determining the efficacy of a new treatment.
The existence of a ready pool of individuals with Down syndrome, collected in a registry with corresponding bio-specimens, represents the seed of a national registry that is critical for the streamlining of clinical trials and the effective communication about new treatments and trials.
If you are interested in learning more about the development of a national registry for individuals with Down syndrome, please register as a member of DSRTF so that we can inform you and include you as progress is made toward this goal.