Rhizomelic Chondrodysplasia Punctata Registry

• Sponsor: Nemours Children's Clinic (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT04569162
• Collaborator: RhizoKids International (Other)
• Enrollment: 100
• Location: 1
• Anticipated Duration (Months): 199.5
• Patients Per Site Per Month: 0.5

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
RCDP - Rhizomelic Chondrodysplasia Punctata; RCDP1; RCDP2; RCDP3; RCDP4; RCDP5

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 Design

• Study Type: Observational [Patient Registry]
• Anticipated Enrollment: 100 participants
• Observational Model: Case-Only
• Time Perspective: Other
• Official Title: Rhizomelic Chondrodysplasia Punctata Registry at A.I. duPont Hospital for Children
• Actual Study Start Date: May 17, 2013
• Anticipated Primary Completion Date: Jan 1, 2030
• Anticipated Study Completion Date: Jan 1, 2030

Outcome Measures

Primary Outcome Measures

1. 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

2. 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.

Eligibility Criteria

Criteria

• Ages Eligible for Study: N/A and Older
• Sexes Eligible for Study: All
• Accepts 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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Nemours	Wilmington	Delaware	United States	19803

Sponsors and Collaborators

• Nemours Children's Clinic
• RhizoKids International

Investigators

• Principal Investigator: Michael Bober, MD, PhD, Nemours

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Michael Bober, Director of Skeletal Dysplasia Program, Nemours Children's Clinic
• ClinicalTrials.gov Identifier: NCT04569162
• Other Study ID Numbers: MB002
• First Posted: Sep 29, 2020
• Last Update Posted: Sep 29, 2020
• Last Verified: Sep 1, 2020

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Chondrodysplasia Punctata, Rhizomelic; Chondrodysplasia Punctata

Study Results

No Results Posted as of Sep 29, 2020