Actively Recruiting
Rhizomelic Chondrodysplasia Punctata Registry at Nemours Children's Health
Led by Nemours Children's Clinic · Updated on 2025-07-11
100
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
N
Nemours Children's Clinic
Lead Sponsor
R
RhizoKids International
Collaborating Sponsor
AI-Summary
What this Trial Is About
This research aims to collect detailed medical information on individuals diagnosed with rhizomelic chondrodysplasia punctata (RCDP) and closely related conditions. The purpose is to better understand the natural history of these rare disorders and identify clinical features that may predict poor outcomes. By establishing this registry, the study hopes to support future development of preventive treatments and improve quality of life for those affected. The study involves only reviewing existing medical records, including specialist evaluations, surgical reports, blood and urine tests, genetic testing, and imaging like x-rays or CT/MRI scans. There are no additional visits, procedures, or tests required for participants. No treatments or interventions are administered as part of this registry. Participants will not need to attend any study visits or change their usual care. Researchers will securely collect and store data extracted from medical charts to analyze disease progression and outcomes over a five-year period. The study is observational and poses no direct risk, focusing solely on data collection and analysis with ongoing monitoring until 2030.
CONDITIONS
Brief Title
Rhizomelic Chondrodysplasia Punctata Registry
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosed with RCDP or closely related conditions by metabolic and/or genetic testing
You will not qualify if you...
- Not meeting diagnosis of RCDP or closely related conditions by study team physician review of prior metabolic and/or genetic testing
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote) for consent and eligibility confirmation
Duration - Up to 5 years
Participants who undergo routine care are observed through collection of existing medical records and data to study the natural history of RCDP without additional clinic visits or procedures.
No additional visits; data collected from routine healthcare records
Trial Site Locations
Total: 1 location
1
Nemours
Wilmington, Delaware, United States, 19803
Actively Recruiting
Research Team
E
Emily Longenecker, BS
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here