RhizoKids International is sponsoring a registry of individuals with Rhizomelic Chondrodysplasia Punctata (RCDP). The purpose of this registry is to learn more about RCDP and how to predict and treat medical issues that arise as a result. The name of the registry is “The Rhizomelic Chondrodysplasia Punctata Registry at A.I. duPont Hospital for Children”. Dr. Michael Bober and his team are currently managing the registry for RhizoKids International. This registry consists of both a retrospective component, which involves the collection and consolidation of medical records, and a prospective survey component where participants are contacted regularly by email to complete surveys designed to assess various components of the disease. Using available medical records can provide information on a disease and how it is commonly treated, but is limited by the fact that the data available is only what is collected during the care of each patient. As such, each patient will have a different set of assessments, performed at different intervals and at different facilities. The registry has already resulted in publications detailing cardiac and spinal complications, as well as RCDP-specific growth curves.

The following other specialists are also involved:
Angie Duker, Study Coordinator, A.I. duPont Hospital for Children
Cassie Brown, Research Coordinator, A.I. duPont Hospital for Children

If you would like more information about this registry or would like to discuss if you or a loved one is eligible to participate please contact us.