Registry for individuals with Rhizomelic Chondrodysplasia Punctata
Rhizomelic Chondrodysplasia Punctata Registry at Nemours Children's Health
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 |
|---|---|
| Enrollment | 100 (estimated) |
| Sex | All |
| Sponsor | Nemours Children's Clinic Academic / other |
| Locations | 1 site (Wilmington, Delaware) |
| Trial ID | NCT04569162 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this registry are individuals diagnosed with RCDP or closely related conditions through metabolic and/or genetic testing.
Not a fit: Patients who do not have a diagnosis of RCDP or related conditions will not benefit from this registry.
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 performed: While this registry approach is not novel, it builds on previous successful registries that have improved understanding of rare conditions.
Eligibility criteria
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 this trial is running
Wilmington, Delaware
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.