RCDP Natural History Study in kids and teens
Official title: A Prospective Natural History Study of Patients With Rhizomelic Chondrodysplasia Punctata (RCDP)
Run by Med-Life Discoveries LP · NCT04031287 · Data updated 2026-11-12
This study tests how Rhizomelic Chondrodysplasia Punctata progresses over time in children and teens to better understand the disease.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 6 Months to 21 Years |
| Sex | All |
| Enrollment | 75 (estimated) |
| Sponsor | Med-Life Discoveries LP Industry-sponsored |
| Locations | 1 site (Wilmington, Delaware) |
| Status | Recruiting |
| Started | June 18, 2019 |
| Main results expected | December 2027 |
| Study ends | December 2027 |
| Registry record updated | October 9, 2026 |
| Trial ID | NCT04031287 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Children and young adults aged 6 months to 21 years with a clinical and biochemical confirmation of RCDP.
✕Probably not a fit
Patients with advanced disease where no disease-modifying therapy is available may not experience direct benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is a prospective, longitudinal observational study of people with RCDP. Participants are followed from baseline with visits about every 6 months, and home-based surveys and audiology checks are collected regularly. The goal is to document natural history and how symptoms and quality of life change over time to inform future therapies. Genetic and biochemical confirmation are used for eligibility, and safety monitoring is minimal since this is observational. Data collected include physical assessments, functional measurements, and caregiver-reported information.
Why it matters
Potential benefit: Participants may contribute to knowledge that could improve future treatments and disease management for RCDP.
How similar studies have gone: Previous observational efforts in RCDP have helped define disease progression and natural history, guiding future therapeutic development.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosis of RCDP age range 6 months to 21 years * A clinical diagnosis of RCDP confirmed with biochemical parameters defined as C16:0 plasmalogen level of less than or equal to 0.75 of the lower limit of the normal reference range AND normal very long chain fatty acid levels. Exclusion Criteria: * Disease severity: The study physician will decide whether the child is too ill to travel due to chronic or acute severe cardiac or respiratory compromise. * Guardian or a care-giver who is not available or not capable of providing accurate information about the patient. * Involvement in any other clinical trial.
Where it's running
-
Alfred I. DuPont Hospital for Children
Wilmington, Delaware, United States Recruiting
Study contacts
- Principal investigator: Mahim Jain, MD — The Nemours Foundation
- Study coordinator: Tara Smith, PhD
- Email: t.smith@med-life.ca
- Phone: 306-244-8233
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.