RCDP Natural History Study

Status unconfirmed

Conditions studied: Rhizomelic Chondrodysplasia Punctata

In brief

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 and functional measurements will be performed. In addition, audiologic recordings and other surveys will be completed at home by parents beginning at baseline and every 3-6 months thereafter.

Key facts

Study ID

NCT04031287

Run by

MED-LIFE DISCOVERIES LP

People needed

75

Starts

2019-06-18

Expected to finish

2021-06-01

Last updated by the study team

2019-08-02

Who can join

Age: 1 and older, up to 21. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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 is running

• Alfred I. DuPont Hospital for Children — Wilmington, Delaware, United States (enrolling)

Full record on ClinicalTrials.gov

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