Understanding Methylmalonic Acidemia and Cobalamin Disorders
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This research study follows patients with methylmalonic acidemia (a rare metabolic disorder affecting how the body breaks down certain proteins) or cobalamin (vitamin B12) disorders to better understand how these conditions develop and progress over time. Researchers will collect medical information, blood samples, and eye exams to help improve future treatments.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You or your child must have a confirmed diagnosis of methylmalonic acidemia or a cobalamin disorder, based on blood and urine tests and/or genetic testing
- You must be at least 1 month old (infants as young as 1 month can participate)
- Your condition must be relatively stable and under control with current treatment
- You must have a regular doctor (metabolic specialist, geneticist, or primary care physician) who coordinates your care
- You cannot be on dialysis more than once per week, or weigh less than 40 kg if you are on dialysis
- You cannot currently be taking antibiotics for an active infection at the time of enrollment
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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