Recruiting

Observational Study

Sponsor:

Nemours Children's Clinic

Code:

NCT04569162

Conditions

RCDP - Rhizomelic Chondrodysplasia Punctata

RCDP1

RCDP2

RCDP3

RCDP4

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

RCDP - Rhizomelic Chondrodysplasia Punctata

RCDP1

RCDP2

RCDP3

RCDP4

Study ID

NCT04569162

Start date

May 17, 2013

Status verified date

Aug, 2026

Completion date

Jan 1, 2030

Anticipated

Primary completion date

Jan 1, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Characterizations of the natural history of rhizomelic chondrodysplasia punctata [ Time Frame: 5 years ]
  • Identification of clinical features that are predictive of poor outcomes [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Emily Longenecker, BS

302-298-7978emily.longenecker@nemours.org

Locations

Nemours

Recruiting

Wilmington, Delaware, United States, 19803

Contacts

Emily Longenecker, BS

302-298-7978emily.longenecker@nemours.org

Principal Investigator:

Mahim Jain, MD, PhD

More Information

Sponsor

Nemours Children's Clinic

Last update posted

Aug 7, 2026

Last verified

Aug, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Nemours Children's Clinic on 2026-08-07.