Rhizomelic Chondrodysplasia Punctata Registry

Recruiting

• Conditions: RCDP3; RCDP4; RCDP1; RCDP2; RCDP - Rhizomelic Chondrodysplasia Punctata; RCDP5

• Registration Number: NCT04569162
• Lead Sponsor: Nemours Children's Clinic

Brief 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.

Detailed 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 extracted from the medical record. Records that may be requested and reviewed as a part of this study include but may not be limited to: specialist evaluations, surgical reports, results of blood and urine tests, genetic testing, x-rays, CT/MRI imaging. There are no special procedures, visits, or expectations of the individual as a result of participation in this registry. No one will be asked to have any specific testing for the sole purposes of this research.

Study Timeline

• Study Start: 2013-05-17
• Study First Submitted: 2020-09-23
• Study First Submitted QC: 2020-09-23
• Study First Posted: 2020-09-29
• Status Verified: 2024-09
• Last Update Submitted: 2024-09-26
• Last Update Posted: 2024-09-30
• Primary Completion: 2030-01-01
• Study Completion: 2030-01-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

• Diagnosed with RCDP or closely related conditions by metabolic and/or genetic testing

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Exclusion Criteria

• Not meeting diagnosis of RCDP or closely related conditions by study team physician review of prior metabolic and/or genetic testing

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Characterizations of the natural history of rhizomelic chondrodysplasia punctata	5 years	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	5 years	Identifying risk factors will allow for preventative treatments and thus a better quality of life for individuals with RCDP.

Trial Locations

Locations (1)

Nemours; 🇺🇸 Wilmington, Delaware, United States