Rhizomelic Chondrodysplasia Punctata Registry
Launched by NEMOURS CHILDREN'S CLINIC · Sep 23, 2020
Trial Information
Current as of July 07, 2025
Recruiting
Keywords
ClinConnect Summary
The Rhizomelic Chondrodysplasia Punctata Registry is a clinical trial aimed at gathering important medical information about people diagnosed with Rhizomelic Chondrodysplasia Punctata (RCDP) and similar conditions. By collecting this data, researchers hope to better understand these rare disorders and improve the care and support for those living with them. The study is currently looking for participants of all ages and genders who have been diagnosed with RCDP or related conditions through specific tests.
If you or a family member have been diagnosed with RCDP, you may be eligible to join this registry. To participate, a doctor will review your previous medical tests to confirm the diagnosis. Participants can expect to share their medical history and may be contacted for future research opportunities. This is a valuable chance to contribute to a better understanding of RCDP and help improve the lives of others facing similar challenges.
Gender
ALL
Eligibility criteria
- 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
About Nemours Children's Clinic
Nemours Children's Clinic is a leading pediatric healthcare organization dedicated to enhancing the health and well-being of children through innovative clinical care, research, and education. As a prominent clinical trial sponsor, Nemours is committed to advancing pediatric medicine by conducting rigorous clinical trials that explore new treatments and therapies. The clinic's multidisciplinary team of experts collaborates closely with families and community partners to ensure that research initiatives are aligned with the unique needs of children. With a focus on safety, efficacy, and ethical standards, Nemours Children's Clinic aims to foster breakthroughs that will improve health outcomes for children and adolescents.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Wilmington, Delaware, United States
Patients applied
Trial Officials
Michael Bober, MD, PhD
Principal Investigator
Nemours
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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