Rhizomelic Chondrodysplasia Punctata Registry

RCDP - Rhizomelic Chondrodysplasia Punctata Clinical Trial

Official title:

Rhizomelic Chondrodysplasia Punctata Registry at A.I. duPont Hospital for Children

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04569162
• Other study ID #: MB002
• Status: Recruiting
• Start date: May 17, 2013
• Est. completion date: January 1, 2030

Study information

• Verified date: September 2023
• Source: Nemours Children's Clinic
• Contact: Andrea Schelhaas, MS, CGC
• Phone: 302-298-2445
• Email: andrea.schelhaas[@]nemours.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: January 1, 2030
• Est. primary completion date: January 1, 2030
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• RCDP - Rhizomelic Chondrodysplasia Punctata
• RCDP1
• RCDP2
• RCDP3
• RCDP4
• RCDP5

Locations

Country	Name	City	State
United States	Nemours	Wilmington	Delaware

Sponsors (2)

Lead Sponsor	Collaborator
Nemours Children's Clinic	RhizoKids International

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	5 years
Primary	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.	5 years