Ataluren now being tested for methylmalonic acidemia

Note : Ataluren would only be potentially beneficial for those with a genetic disorder caused by a nonsense mutation, which is likely to be a minority

Regular readers will be aware that PTC Therapeutics are trialling a drug called Ataluren which is hoped to be able to 'negate' the nonsense premature stop order that happens with nonsense mutations, and so it is hoped will enable the protein to fully develop. Ideally, this would mean it completely negates a genetic disorder caused by a nonsense mutation although presumably a 100% achievement is not currently expected, and it is more likely hoped to improve the disorder to some degree.

Trials are ongoing using Ataluren as a treatment for cystic fibrosis, with the reported outcome being some improvement. They are also trialling it for hemophilia.

PTC Therapeutics have now released a press statement about their plans for a Phase 2 trial for sufferers who have nonsense mutations for Methylmalonic Acidemia, which is a very serious life-threatening enzyme disorder.

Ataluren is hoped to be beneficial in all enzyme disorders caused by nonsense mutations. Genetic Trimethylaminuria would obviously include a subset who fit this category (those with genetic TMAU due a nonsense mutation), but we do not know what percent of genetic TMAU cases are caused by nonsense mutations. It is likely to be a minority.

- First proof-of-concept clinical study of ataluren in a metabolic disorder -

SOUTH PLAINFIELD, NJ – October 26, 2010 – PTC Therapeutics, Inc. today announced that it is expanding the development of ataluren, an investigational new drug, with the initiation of a Phase 2 clinical trial in 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

Full press release from PTC Therapeutics about Ataluren  

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