Condition: Organic Acidemia · Methylmalonic Acidemia · Inborn Errors of Metabolism · Sponsor: National Human Genome Research Institute (NHGRI)
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. Furthermore, current treatment protocol outcomes have continued to demonstrate substantial morbidity and mortality in the patient population. Increasingly, solid organ transplantation (liver, and/or kidney) has been used to treat patients. Disordered transport and intracellular metabolism of vitamin B12 produces a distinct group of disorders that feature methylmalonic acidemia as well as (hyper)homocysteinemia. These conditions are named after the corresponding cellular complementation class - (cblC, cblD, cblF, cblJ and cblX) - and are also heterogenous, clinically and biochemically. The genetic disorders underlying cblE and cblG feature an isolated impairment of the activity of methionine synthase, a critical enzyme involved in the conversion of homocysteine to methionine and these disorders feature (hyper)homocysteinemia. Lastly, a group of patients can have increased methylmalonic acid and/or homocysteine in the blood or urine caused by variant(s) in recently identified (ACSF3) a…
This description comes directly from the study's public registry record.
Jennifer L Sloan, Ph.D. · (301) 443-9055 · jsloan@mail.nih.gov
Charles P Venditti, M.D. · (301) 496-6213 · venditti@mail.nih.gov
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| Children's National Medical Center | Washington D.C., District of Columbia, United States | Completed |
| National Institutes of Health Clinical Center | Bethesda, Maryland, United States | Recruiting |
| UPMC Children's Hospital of Pittsburgh | Pittsburgh, Pennsylvania, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT00078078