Status:
UNKNOWN
RCDP Natural History Study
Lead Sponsor:
MED-LIFE DISCOVERIES LP
Conditions:
Rhizomelic Chondrodysplasia Punctata
Eligibility:
All Genders
6-21 years
Brief Summary
A prospective, longitudinal observational trial in patients with RCDP. Study participants will be evaluated at baseline and approximately every 6 months by the study team. Quality of life, physiologic...
Detailed Description
Rhizomelic chondrodysplasia punctata (RCDP) is a group of rare diseases that have no known cure. It is a genetic disorder characterized by mutations in the Peroxisomal Biogenesis Factor 7 (PEX7) gene ...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
June 18 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
June 1 2021
Estimated Enrollment :
75 Patients enrolled
Trial Details
Trial ID
NCT04031287
Start Date
June 18 2019
End Date
June 1 2021
Last Update
August 2 2019
Active Locations (1)
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1
Alfred I. DuPont Hospital for Children
Wilmington, Delaware, United States, 19803