Study of children with severe MMA linked to the MMUT gene
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This study is for children up to 16 years old with a severe form of methylmalonic acidemia (MMA) caused by a specific gene change (MMUT). It aims to better understand the disease and may lead to future treatments. Both children who have had a liver transplant and those who have not can join, as long as certain criteria are met.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are 16 years old or younger.
- You have a confirmed diagnosis of isolated methylmalonic acidemia (MMA) caused by a problem in the MMUT gene.
- Your MMA is considered severe: for those who haven't had a transplant, this means a high blood MMA level, an unplanned ER visit or hospital stay in the past year, and likely need for a future liver transplant. For those who have had a transplant, you had a high MMA level before transplant and the transplant was done to improve metabolic stability.
- If you have had a liver or combined liver/kidney transplant, we need a blood MMA test result from within 6 months before your transplant.
- You are not currently in another treatment study, and you have not taken part in a gene therapy trial before.
- You and your family are willing to commit to the study visits and follow the protocol.
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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