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 range

6 Months – 21 Years

Sex

ALL

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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

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

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 range

6 Months – 21 Years

Sex

ALL

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