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Scientists launch deep dive into rare metabolic disease MMA

NCT ID NCT00078078

First seen Nov 21, 2025 · Last updated Jun 22, 2026 · Updated 22 times

Summary

This study follows people with methylmalonic acidemia (MMA) and related disorders to learn how the disease progresses over time. Researchers will collect medical history, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better understand complications and identify markers for future clinical trials.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

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

    Contact Phone: •••-•••-•••• Email: •••••@•••••

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, improved monitoring, and new targets for future treatments.

What could go wrong

This is an observational study, not testing a treatment. It may not directly improve outcomes, and results may take years to translate into clinical practice.

Conditions

The condition(s) this trial relates to.

hyperhomocysteinemia inborn errors of metabolism metabolic disease methylmalonic acidemia

As listed by the trial registrant

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