Rhizomelic Chondrodysplasia Punctata Registry

Rhizomelic Chondrodysplasia Punctata Registry at Nemours Children's Health

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.

Study Overview

• Status: Recruiting
• Conditions: 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 Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Emily Longenecker, BS; Phone Number: 302-298-7978; Email: emily.longenecker@nemours.org

Study Locations

• United States
  • Delaware
    • Wilmington, Delaware, United States, 19803
      • Recruiting
      • Nemours
      • Contact: Emily Longenecker, BS; Phone Number: 302-298-7978; Email: emily.longenecker@nemours.org
      • Principal Investigator: Mahim Jain, MD, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Any individual at any age with rhizomelic chondrodysplasia punctata or a closely related condition

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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
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

Collaborators and Investigators

• Sponsor: Nemours Children's Clinic
• Collaborators: RhizoKids International
• Investigators: Principal Investigator: Mahim Jain, MD, PhD, Nemours

Study record dates

Study Major Dates

• Study Start (Actual): May 17, 2013
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2030

Study Registration Dates

• First Submitted: September 23, 2020
• First Submitted That Met QC Criteria: September 23, 2020
• First Posted (Actual): September 29, 2020

Study Record Updates

• Last Update Posted (Actual): July 11, 2025
• Last Update Submitted That Met QC Criteria: July 8, 2025
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Bone Diseases; Musculoskeletal Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Osteochondrodysplasias; Bone Diseases, Developmental; Peroxisomal Disorders; Chondrodysplasia Punctata, Rhizomelic; Chondrodysplasia Punctata
• Other Study ID Numbers: MB002

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No