Researchers seek to unlock mysteries of rare metabolic disease
NCT ID NCT00078078
First seen Nov 21, 2025 · Last updated Apr 30, 2026 · Updated 16 times
Summary
This study aims to learn more about methylmalonic acidemia (MMA), a rare genetic disorder that can cause serious health problems like kidney failure, strokes, and developmental delays. Researchers will observe up to 2275 participants over time using blood tests, imaging, and other exams to track how the disease progresses and identify new markers. The goal is to better understand the condition and pave the way for future treatments.
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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.
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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Children's National Medical Center
COMPLETEDWashington D.C., District of Columbia, 20010, United States
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
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UPMC Children's Hospital of Pittsburgh
RECRUITINGPittsburgh, Pennsylvania, 15224, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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