About this trial
The goal of this registry is to collect medical information on individuals with rhizomelic chondrodysplasia punctata and closely related conditions. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Diagnosed with RCDP or closely related conditions by metabolic and/or genetic testing
Disqualifiers
Not meeting diagnosis of RCDP or closely related conditions by study team physician review of prior metabolic and/or genetic testing
Trial population
Any individual at any age with rhizomelic chondrodysplasia punctata or a closely related condition
Trial design
Case-only
Other
Treatments tested in this trial
Not listed
Trial groups
Trial outcomes
Primary outcomes
Characterizations of the natural history of rhizomelic chondrodysplasia punctata
Data will be collected at enrollment, and over time, to allow for analysis of associated features throughout the lifespan
Identification of clinical features that are predictive of poor outcomes
Identifying risk factors will allow for preventative treatments and thus a better quality of life for individuals with RCDP.
Sponsors and contacts
Click on the lead sponsor to view all of their trials.
Nemours Children's Clinic
Lead sponsor
RhizoKids International
Collaborator