PTC Therapeutics announced the initiation of a Phase 2 trial of ataluren to treat patients with nonsense mutation methylmalonic acidemia (nmMMA). MMA is a rare genetic disorder caused by deficiencies of crucial metabolic enzymes. Lack of these enzymes causes toxic levels of methylmalonic acid to accumulate in body fluids resulting in life-threatening metabolic complications affecting mainly the brain and kidneys.
The primary objective of this multi-center, open-label, dose-ranging trial is to determine whether treatment with ataluren reduces plasma methylmalonic acid levels. The trial will enroll approximately 18 patients who are ≥2 years of age and have MMA due to a nonsense mutation.
Ataluren is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation.
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