UnknownNot Applicable

RCDP Natural History Study

United States75 participantsStarted 2019-06-18

Plain-language 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 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.

Who can participate

Age range6 Months – 21 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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.

What they're measuring

Medical History

Timeframe: 18 months

Body Temperature

Timeframe: 18 months

Respiratory Rate

Timeframe: 18 months

Heart Rate

Timeframe: 18 months

Blood pressure

Timeframe: 18 months

Physical Examination: General Appearance

Timeframe: 18 months

Physical Examination: Head, Eyes, Ears, Nose and Throat

Timeframe: 18 months

Physical Examination: Cardiovascular

Timeframe: 18 months

Physical Examination: Dermatologic

Timeframe: 18 months

Trial details

NCT IDNCT04031287

SponsorMED-LIFE DISCOVERIES LP

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2020-12

Contact for this trial

Shawn Ritchie, PhD

306-244-8233 s.ritchie@med-life.ca

View on ClinicalTrials.gov More Rhizomelic Chondrodysplasia Punctata trials

Plain-language summary

Who can participate

Age range6 Months – 21 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Medical History

Timeframe: 18 months

Body Temperature

Timeframe: 18 months

Respiratory Rate

Timeframe: 18 months

Heart Rate

Timeframe: 18 months

Blood pressure

Timeframe: 18 months

Physical Examination: General Appearance

Timeframe: 18 months

Physical Examination: Head, Eyes, Ears, Nose and Throat

Timeframe: 18 months

Physical Examination: Cardiovascular

Timeframe: 18 months

Physical Examination: Dermatologic

Timeframe: 18 months