Understanding rare purine and pyrimidine metabolism disorders
Part of Blood & lymphatic, Brain & nervous system, Genetic & congenital, Heart & circulation, Hormones & metabolism, Immune system & allergy, Skin clinical trials.
This study aims to learn more about rare disorders of purine and pyrimidine metabolism (DPPM), which can affect the brain, immune system, kidneys, and muscles. Researchers will study people with these disorders, their family members, and healthy volunteers to better understand the condition over time.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You (or your family member) must be at least one month old.
- You must either have or be suspected of having a disorder of purine and pyrimidine metabolism (DPPM), or be a family member of someone who does, or be a healthy volunteer.
- If affected, you need a doctor outside the National Institutes of Health (NIH) for your routine care.
- You must be willing to sign a consent form (or have a parent or legal guardian do so).
- Healthy volunteers must have no personal or family history of DPPM and no symptoms.
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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