Clinical and Laboratory Study of Methylmalonic Acidemia
NCT00078078
This study is recruiting at 2 US sites in 2 states, according to its ClinicalTrials.gov record last updated .
Summary
Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations. Affected patients with cblA, cblB and mut classes of MMA are medically fragile and can suffer from complications such as metabolic stroke or infarction of the basal ganglia, pancreatitis, end stage renal failure, growth impairment, osteoporosis, and developmental delay. The frequency of these complications and their precipitants remain undefined.
Shortened from the sponsor's brief summary. View official record on ClinicalTrials.gov
Conditions studied
- Organic Acidemia
- Methylmalonic Acidemia
- Inborn Errors of Metabolism
Eligibility basics and study details
- Study type
- Observational
- Phase
- Not applicable
- Ages
- 1 month to 115 years
- Sex
- All
- Healthy volunteers
- Accepted
- Sponsor
- National Human Genome Research Institute (NHGRI)
- Last updated on ClinicalTrials.gov
- October 8, 2026
These are the basic criteria only. The full inclusion and exclusion criteria are on the official record, and the study team decides who can take part.
US recruiting sites
Maryland · 1
- National Institutes of Health Clinical Center · Bethesda, MD
Pennsylvania · 1
- UPMC Children's Hospital of Pittsburgh · Pittsburgh, PA
Source: ClinicalTrials.gov, data processed . Recruiting US sites filtered by distance and site status; summaries shortened.