Scientists launch deep dive into rare metabolic disease MMA

NCT ID NCT00078078

Recruiting now Knowledge-focused Sponsor: National Human Genome Research Institute (NHGRI) Source: ClinicalTrials.gov ↗

First seen Jun 24, 2026 · Last updated Jul 31, 2026 · Updated 12 times

Summary

This study aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better understand the disease and identify markers for future clinical trials.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to: If successful, this study could lead to better understanding of MMA and related disorders, helping design future treatments and improve patient care.
What could go wrong: This is an observational study, not a treatment trial. It may not directly benefit participants, and results may take years to translate into new therapies.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

hyperhomocysteinemia inborn disorder of cobalamin metabolism and transport inborn errors of metabolism inborn organic aciduria metabolic disease methylcobalamin deficiency type cblE methylcobalamin deficiency type cblG methylmalonic acidemia methylmalonic acidemia with homocystinuria, type cblJ methylmalonic aciduria and homocystinuria type cblC methylmalonic aciduria and homocystinuria type cblD methylmalonic aciduria and homocystinuria type cblF methylmalonic aciduria, cblA type

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

INBORN ERRORS OF METABOLISM METHYLMALONIC ACIDEMIA ORGANIC ACIDEMIA

Contacts and locations

Locations

Children's National Medical Center
COMPLETED

Washington D.C., District of Columbia, 20010, United States
National Institutes of Health Clinical Center
RECRUITING

Bethesda, Maryland, 20892, United States
UPMC Children's Hospital of Pittsburgh
RECRUITING

Pittsburgh, Pennsylvania, 15224, United States

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