dushin

Question

my sun 10 ag has duchin musquler dystrophyl please haw can I get the ptc 124

Answer

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. PTC124/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 PTC124/ ataluren in either disorder you can visit www.clinicaltrials.gov.

Before PTC124/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.

PTC124/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 PTC124/Ataluren, the regulatory process would progress quicker. Unfortunately we are unable to say how long this will take.

Best wishes
Lisa Kent
Damian Downey

20.07.2012

The answer is edited by: PhD Lisa Kent