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Ataluren

Ataluren for Nonsense Mutation Methylmalonic Acidemia

Ensayo de PTC THERAPEUTICS, INC. en Amino Acid Metabolism, Inborn Errors (del registro, en inglés).

Fase

Fase 2

Estado

Interrumpido

Participantes

11

previstos

Centros

9

Fin del objetivo primario

nov 2011

fecha real

Qué significa cada fase y cada estado.

Estudio de intervención, de un solo grupo, abierto. Comenzó en jul 2010.

Este ensayo se detuvo. Motivo declarado por el promotor (del registro, en inglés): «Terminated due to low enrollment and unclear pharmacologic effect in available pharmacodynamic data (not due to any safety concerns).».

Qué mide

Plasma Methylmalonic Acid (MMacid) Levels (Baseline and Day 28 and Day 29 (last day of dosing) of Cycles 1 and 2) (del registro, en inglés)

Cómo lo describe el promotor

En el documentoEn inglés, del registroMethylmalonic acidemia (MMA) is a rare genetic disorder caused by mutations in the gene for mitochondrial enzyme methylmalonyl-CoA mutase (MCM) or in one of the genes for adenosylcobalamin (AdoCbl). Lack of these proteins causes toxic elevations of methylmalonic acid (MMacid) in blood, urine, and other tissues. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of the disease in approximately 5% to 20% of participants with mutations in the MCM gene, and approximately 20% to \>50% of participants with mutations in one of the AdoCbl genes. Ataluren is an orally delivered, investigational drug that acts to overcome the effects of the premature stop codon, potentially enabling the production of functional MCM/AdoCbl. This study is a Phase 2a trial evaluating the safety and activity of ataluren in participants with MMA due to a nonsense mutation. The main purpose of this study is to understand whether ataluren can safely decrease MMacid levels.

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Ficha completa en ClinicalTrials.gov (NCT01141075), actualizada en jun 2020.