Rhizomelic Chondrodysplasia Punctata Registry at Nemours Children's Health
Nemours Children's Clinic
Summary
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.
Description
The goal of this registry is to collect information on individuals with rhizomelic chondrodysplasia punctata (also called RCDP). This registry will enable detailed natural history studies of RCDP, with the hopes that identification of risk factors will allow for preventative treatments and thus a better quality of life for individuals with these diagnoses. This study is limited to chart review, after signed informed consent obtained. There will be no additional visits or time in clinic because of participation in this registry. This study involves only the collection and storage of data extra…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Diagnosed with RCDP or closely related conditions by metabolic and/or genetic testing Exclusion Criteria: * Not meeting diagnosis of RCDP or closely related conditions by study team physician review of prior metabolic and/or genetic testing
Location
- NemoursWilmington, Delaware