- The disease is the result of a 'nonsense mutation' AND
- The patient is over 5 years old AND
- They are still able to walk.
Why is this so significant?
Basically ataluren restores the synthesis of dystrophin production. There is still some uncertainty regarding whether ataluren really is effective and, if it is, how effective it is. However, on balance, the committee felt that there was enough evidence to suggest that is effective in certain groups. The drug is felt to be a bit of a 'step change' in management of Duchenne Muscular Dystrophy, because it is the first drug that actually affects the nature of the disease.
A quick reminder about Duchenne Muscular Dystrophy...
Duchenne Muscular Dystrophy involves abnormal dystrophin production in cardiac, smooth and skeletal muscle fibres. In patients with a 'nonsense mutation' there is a single base variation in the person's DNA. Symptoms normally appear in the patient by about age 3. Initially skeletal muscle is affected, but over time the heart and other organs are involved too. Patients normally die before age 30 from cardiac and respiratory failure.
At present, steroids can be used to bring a delay in the loss of walking, but otherwise treatment is supportive.
Any drug that slows down the loss of walking is useful as it reduces the care needs of the patient. Walking is normally lost in the mid-teens, which is obviously a hugely formative period for most people. If this can be delayed, it can be hugely important for the individual.