A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene

Conditions

• Methylmalonic Acidemia (MMA)

Eligibility Criteria

Sex

ALL

Age

N/A - 16 Years

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

May 31, 2026

Status verified

Feb 2026

Primary completion

May 31, 2030

Completion

May 31, 2030

Study Design

Enrollment

30 participants (estimated)

Arms

• Arm: Unstransplanted severe MMA
  without previous liver (or combined liver/kidney) transplantation at time of screening
• Arm: Transplanted severe MMA
  with previous liver (or combined liver/kidney) transplantation at time of screening

Primary Outcome Measure

Evaluation of disease progression using biochemical biomarkers [ Time Frame: Baseline, Month 6, Month 12, Month 18, Month 24, Month 30 and Month 36 ]

Central Contacts

• Gwenaelle roguet, MD
  +33 0745017668
  [email protected]
• simon Hawkins, PhD
  [email protected]

Locations (2)

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