Registry for individuals with Rhizomelic Chondrodysplasia Punctata
Official title: Rhizomelic Chondrodysplasia Punctata Registry at Nemours Children's Health
Run by Nemours Children's Clinic · NCT04569162 · Data updated 2026-11-12
This study is collecting medical information from people with Rhizomelic Chondrodysplasia Punctata to see if it can help find ways to improve their health and quality of life.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | Nemours Children's Clinic Academic / other |
| Locations | 1 site (Wilmington, Delaware) |
| Status | Recruiting |
| Started | May 17, 2013 |
| Main results expected | January 1, 2030 |
| Study ends | January 1, 2030 |
| Registry record updated | August 7, 2026 |
| Trial ID | NCT04569162 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this registry are individuals diagnosed with RCDP or closely related conditions through metabolic and/or genetic testing.
✕Probably not a fit
Patients who do not have a diagnosis of RCDP or related conditions will not benefit from this registry.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This registry aims to collect medical information on individuals diagnosed with Rhizomelic Chondrodysplasia Punctata (RCDP) and related conditions. By gathering data from medical records, the study seeks to conduct natural history studies that could identify risk factors and lead to preventative treatments. Participation involves no additional clinic visits or procedures, as it focuses solely on chart reviews after obtaining informed consent. The ultimate goal is to improve the quality of life for individuals affected by these conditions.
Why it matters
Potential benefit: If successful, this registry could lead to improved understanding and management of RCDP, enhancing the quality of life for affected individuals.
How similar studies have gone: While this registry approach is not novel, it builds on previous successful registries that have improved understanding of rare conditions.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
-
Nemours
Wilmington, Delaware, United States Recruiting
Study contacts
- Principal investigator: Mahim Jain, MD, PhD — Nemours
- Study coordinator: Emily Longenecker, BS
- Email: emily.longenecker@nemours.org
- Phone: 302-298-7978
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Observational study of patients with peroxisome biogenesis disorders
This study is looking to learn more about Peroxisome Biogenesis Disorders by collecting health information from patients to help improve future treatments.
-
RCDP Natural History Study in kids and teens
This study tests how Rhizomelic Chondrodysplasia Punctata progresses over time in children and teens to better understand the disease.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.