The first ever drug for DMD patients
The first ever drug for Duchenne Muscular Dystrophy patients with NON-SENSE mutation
About ‘Translarna’ (Ataluren) : ‘Translarna’ is the brand name of ‘Ataluren’ from PTC Therapeutics. It is a novel, orally administered small-molecule compound for the treatment of Duchene Muscular Dystrophy patients with a nonsense mutation. Ataluren was granted conditional marketing authorization in the European Union (Economic area) for the treatment of nmDMD in ambulatory patients aged five years and older. Translarna is the first treatment approved for the underlying cause of DMD.
Also, it is available in the US only to the US patients through clinical trials because it is still an investigational drug.
Will this drug be useful to all DMD patients? NO. ‘TRANSLARNA can be used ONLY by DMD patients with NONSENSE (Point) mutation.
I have done the ‘genetic test (MLPA) to my son already. The report has identified deletions/ mutations and confirmed it as DMD. Can this drug be used by my son? NO. MLPA test could not identify Nonsense/point mutations. Therefore, the drug cannot be used by your son without knowing whether or not he has the nonsense mutation.
How do I know whether my child has a nonsense mutation? : Gene sequencing by ‘Next Generation Sequencing (NGS) would help identify nonsense/point mutations.
Where do I do this test? Please contact us at 0452 436 94 94 or write to
Care & Management of Muscular Dystrophy
You might be aware by now that there is no cure for muscular dystrophy, yet. All variations/types of muscular dystrophy remain incurable. However, there have been a few positive outcomes in recent research trials globally. It is hoped that an exon skipping treatment might become available in the market some time during 2013 only to be followed by improved drugs/treatment options. There are a number of clinical trials ongoing and hoping to come out to the market within the next few years. Therefore, let us be optimistic about saving our children. However, we are not expecting a standard one stop cure, but in a phased manner. However, we need to keep the children eligible to avail a treatment when it comes. Keeping a child eligible to avail a cure means a lot of things. We need to identify the deletion/mutation of exons in the dystrophin gene, in the cases of BMD/DMD. A confirmatory diagnosis would be required in any case for that matter. In this understanding, we make the following suggestions.
- Please Undertake a DNA (MLPA) testing or other appropriate test to have a conclusive diagnosis of the type of muscular dystrophy
- Ensure regular physiotherapy/exercise to avoid deformities and maintain flexibility. But don’t get into too much of exercise and/or any unscientific systems. This may create irreversible problems at a later stage.
- Weight management is important. You may increase vegetables and fruits and provide a healthy diet. Please consult your doctor or dietician.
- You may also consider Stemcell therapy as an option, only to delay the speed of deterioration. You may fill-up and submit the online form if you are interested in exploring Stemcell therapy. Please visit this page for the online form https://mdfindia.org/stage/content/stem_cell_theraphy
Please feel free to contact us, should you require any further information in this regard. We would require more details about the age, present health etc of your child so that we could guide you properly.
For general information/enquiries, please write to us.