A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (… (NCT07432880) | Clinical Trial Compass
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A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene
United States, Italy, Spain30 participantsStarted 2026-05
Plain-language summary
Methylmalonic Acidemia (MMA) is a severe and rare condition that affects how the body turns food into energy. In people with MMA, the body is missing or has a very low activity of a specific protein (an enzyme called methylmalonyl-CoA mutase (MMUT)) needed to break down certain proteins and fats in everyday food. Because this process does not work properly, a harmful substance called methylmalonic acid builds up in the blood and tissues, causing damage in the body.
Most people with MMA have an altered MMUT gene, which affects the enzyme methylmalonyl-CoA mutase. MMA often appears in infancy or early childhood, but some people are diagnosed later.
MMA affects approximately 1 in every 100,000 babies born and primarily impacts the liver, brain and kidneys. MMA poses significant challenges as it can result in complications such as dangerous acid levels in the blood, problems with the brain and nerves, visions problems, problems with how the pancreas, liver, and the kidneys work, as well as growth and development delays.
The main purpose of this observational study that tracks how the disease develops over time is to gather necessary data and evidence to confirm which signs in the body and blood test results can reliably show disease activity related to MMA. These confirmed signs and blood test results will be used for future research into developing new treatments for MMA. The data will be collected from participants with severe symptoms with and without liver transplant.
Who can participate
Age range
16 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
. Aged ≤16 years at screening visit
. With or without previous liver (or combined liver/kidney) transplantation at time of screening (note: number of transplanted participants capped at n=15) 3. Confirmed laboratory diagnosis of Isolated MMA caused by mutations in the MMUT gene (NOTE: if a historical genetic mutational analysis report was available at Screening visit but was not from a CLIA/ISO15189 approved laboratory, a confirmatory sample will be taken during the study. However the original lab report will be adequate for study eligibility consideration)..
. Serum methylmalonic acid (sMMA) level of \>100 µmol/L at the Screening visit
. An unscheduled ER visit, hospitalization or requirement for use of the sick day diet regimen in the 12 months prior to the screening visit
. Considered to potentially require future liver transplantation to improve metabolic stability in accordance with MMA transplantation guidelines (Baumgartner 2014, Forny 2021, Sen 2023)
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
1
Evaluation of disease progression using biochemical biomarkers
. Pre-transplant serum methylmalonic acid (sMMA) level of \>100 µmol/L AND
. Transplantation was conducted to improve metabolic stability in accordance with MMA transplantation guidelines (Baumgartner 2014, Forny 2021, Sen 2023).
Exclusion criteria
. Participant/parent/legal guardian/caregiver not willing to consent to participate
. Current participation in another interventional or therapeutic study
. Prior participation in a gene therapy clinical trial including mRNA therapy
. Participants who, in the opinion of the Site Investigator, would be unable or unsuitable to participate in the demands of the study, for example but not limited to participants unable to travel to protocol study visits or participants under palliative care.
. For participants who are post-liver transplant only, participant will be excluded if no prior pre-liver transplant measurements of blood MMA are available.