RecruitingNCT00078078
Metabolic
Methylmalonic Acidemia
Also known as MMA, methylmalonyl-CoA mutase deficiency, MUT deficiency, cobalamin metabolism defect
Methylmalonic acidemia (MMA) is a group of inherited metabolic disorders caused by inability to metabolize certain amino acids and odd-chain fatty acids, resulting in accumulation of methylmalonic acid. The most common form involves deficie
ORPHA:26 ↗Gene MMUTGene MMAAGene MMABGene MMADHCPrevalence 1-9 per 100,000 (Orphanet)Onset Neonatal, InfantileAutosomal recessive genetic
6
studies recruiting now
as of 7 Sept 2026
32
studies registered in total
as of 7 Sept 2026
7
countries with a recruiting site
as of 7 Sept 2026
25 Feb 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT07432880
A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene
RecruitingPhase 1 / Phase 2NCT05295433
An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705
RecruitingNCT05040178
An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
RecruitingNCT04880356
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 6 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a group of inherited metabolic disorders caused by inability to metabolize certain amino acids and odd-chain fatty acids, resulting in accumulation of methylmalonic acid. The most common form involves deficiency of methylmalonyl-CoA mutase (MUT). Patients experience recurrent metabolic crises with lethargy and vomiting, chronic kidney disease, and neurological complications. Some forms respond to vitamin B12 (cobalamin), while mut0 forms do not.
Common clinical features
Metabolic crisisHyperammonemiaChronic kidney diseaseAnemiaPancreatitisDevelopmental delayMovement disorder
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Methylmalonic Acidemia. Not eligibility rules; those are set by each study.
- Vitamin B12 (cobalamin) responsiveness testing distinguishes responsive forms from mut0 — trial eligibility often separates these groups
- Estimated GFR (eGFR) is a primary eligibility criterion — significant renal impairment may exclude patients from certain trials
- Urinary and plasma methylmalonic acid levels are the primary biomarkers; document baseline values carefully
- Liver-kidney transplant recipients may be eligible for quality-of-life or long-term outcome studies
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).