A Good Day For People Living With Duchenne Muscular Dystrophy

Fighting Blindness welcomes the decision by the CHMP to grant conditional approval of Ataluren for the treatment of Duchenne muscular dystrophy (DMD).

The  Committee of Human Medicinal Products (CHMP) yesterday overturned a previous decision not to grant the Conditional Marketing Approval of the investigational new drug Ataluren for Duchenne muscular dystrophy. Following the ruling, further consideration was given by the sponsor PTC and by the CHMP regarding data on the effects of Ataluren.

While acknowledging the difficult review process in the assessment of the data, patient advocates called for a re-examination of the decision. In particular the patient-led groups highlighted the high unmet medical need of patients with DMD. This breakthrough therapy is the first treatment to be conditionally approved for this disease. Approximately 13% of cases of DMD are caused by what are known as non-sense mutations in the dystrophin gene, which results in the premature synthesis of this essential protein. This innovative technology enables the formation of functioning protein and has the potential to be effective in large number of other rare diseases that are caused by non-sense mutations.

The phase III study that is currently ongoing includes individuals with more advanced forms of the disease: this study will be crucial to confirm the effect already observed with Ataluren. The purpose of this study is to measure the size of the effect observed. It appears plausible that the effect is greater in patients with more advanced disease and that the effect in younger patients who are ambulatory may take more time to become apparent in an interventional clinical trial.

The recruitment onto this trial is progressing well and is expected to be finalised by August 2014. So far, 50% of patients have been recruited in Europe with the remainder outside Europe. There is a 48 week treatment period and these results are expected by end of 2015.

Avril Daly, CEO of Fighting Blindness and Chair of the Genetic and Rare Disorders Organisation (GRDO), said; “Today is a very important day for the rare disease community and people living with rare diseases. The CHMP recommendation is a very good example of how informed patient groups can, where appropriate, advocate for better outcomes for patients with unmet need.”

Further information is available on the European Medicines Agency website here.