Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.

Muscular dystrophy

What is the latest news about drug PTC124 (Ataluren) ?
and Does medication proved its effectiveness in the treatment of muscular dystrophy?
 I heard that the drug will be available at the end of 2013 or the beginning of 2014
Is this true?
I do not know if it has been the answer to this question
But I hope that you answer me
Please tell me I'm worried for this
And I wish you success thank you for what you are doing of an effort
Dear Questioner
Many thanks for your question. This is a site for people affected by cystic fibrosis however we will try our best to answer your question.

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. In a subgroup of patients with DMD, the disorder is caused by a “nonsense mutation”. In this type of mutation the protein building process stops early due to a premature stop signal and therefore causes a shortened non-functional protein.

PTC124/Ataluren is designed to allow the protein building process to continue past the premature stop signal and so build a full length functional protein. Ataluren is currently being investigated for use in patients with nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD) and nonsense mutation cystic fibrosis (nmCF).

If you would like to keep up to date with the clinical trials for ataluren in either disorder you can visit Type in “ataluren” and this should bring you information on any studies that have been carried out or that are currently recruiting.

Before ataluren can be made available to patients, it will have to be proven to have a beneficial effect in studies of long duration. It must then be approved by the regulatory authorities in each country.

Ataluren has been granted orphan drug status for the treatment of CF and DBMD by the European Commission. This would hopefully mean that should the investigations show positive results for ataluren, the regulatory process would progress quicker. Unfortunately we are unable to say how long this will take.

Best wishes
Lisa Kent, Belfast
The answer is edited by: PhD Lisa Kent