Riordan com disease life story study
Part of Bones, joints & muscles, Genetic & congenital, Hormones & metabolism clinical trials.
This study collects health information from children and young adults with a rare genetic condition called rhizomelic chondrodysplasia punctata (RCDP) to learn more about how the condition affects people over time. By participating, you can help doctors better understand the condition and improve future care.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must be between 6 months and 21 years old.
- You must have a diagnosis of RCDP, which will be confirmed through a blood test showing low plasmalogen levels and normal very long chain fatty acids.
- You need to be well enough to travel to the study site (the study doctor will decide if you are too sick to travel).
- Your parent or caregiver must be able to provide accurate information about your health.
- You cannot be participating in any other clinical trial at the same time.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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