ALLMedicine™ Methylmalonic Acidemia Center
Research & Reviews 146 results
https://clinicaltrials.gov/ct2/show/NCT00078078
May 13th, 2022 - 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 ...
https://clinicaltrials.gov/ct2/show/NCT04732429
May 11th, 2022 - This is an interventional study to assess the safety, PK, and efficacy of HST5040 in 12 subjects - 6 with Methylmalonic Acidemia (MMA) and 6 with Propionic Acidemia (PA). The study consists of 3 parts: Part A: Open-label, within-subject, dose esca...
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Metabolic Brain Disease; Waisbren SE
Mar 30th, 2022 - Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsychologic...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862216
Orphanet Journal of Rare Diseases; Huang X, Wu D et. al.
Feb 24th, 2022 - Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NBS are limited by suitable biomarkers. ...
https://doi.org/10.1002/jimd.12478
Journal of Inherited Metabolic Disease; Longo N, Sass JO et. al.
Jan 18th, 2022 - There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA). This review examines the pathophysiology and clinical consequences of ...
Drugs 1 results see all →
Clinicaltrials.gov 2 results
https://clinicaltrials.gov/ct2/show/NCT00078078
May 13th, 2022 - 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 ...
https://clinicaltrials.gov/ct2/show/NCT04732429
May 11th, 2022 - This is an interventional study to assess the safety, PK, and efficacy of HST5040 in 12 subjects - 6 with Methylmalonic Acidemia (MMA) and 6 with Propionic Acidemia (PA). The study consists of 3 parts: Part A: Open-label, within-subject, dose esca...
News 1 results
http://www.fda.gov/drugs/development-resources/table-surrogate-endpoints-were-basis-drug-approval-or-licensure
What is the purpose of the Surrogate Endpoint Table? FDA’s surrogate endpoint table provides valuable information for drug developers on endpoints that may be considered and discussed with FDA for individual development programs. This table also f...
