A conditional marketing authorization has been recommended for Translarna (ataluren), an orphan-designated medicine, by the European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP), for the treatment for Duchenne muscular dystrophy caused by nonsense mutations. An orphan drug is a pharma agent developed specifically to treat a rare medical condition that is also known as orphan disease. Translarna is to be used in patients aged five years and older who are able to walk.
Duchenne muscular dystrophy is a genetic disease that gradually causes weakness and loss of muscle function. Patients with the condition lack normal dystrophin, a protein found in muscles. Because this protein helps to protect muscles from injury as muscles contract and relax, in patients with the disease the muscles become damaged and eventually stop working. There are currently no approved therapies available for this life-threatening condition and the current management of the disease is based on prevention and management of complications.
In the European Union (EU), approximately 18,600 people have Duchenne muscular dystrophy. The disease can be caused by a number of genetic abnormalities. Translarna is for use in the subgroup of patients whose disease is due to the presence of certain defects (called nonsense mutations) in the dystrophin gene, which prematurely stop the production of a normal dystrophin protein, leading to a shortened dystrophin protein that does not function properly. Translarna is thought to work in these patients by enabling the protein-making apparatus in cells to skip over the defect, allowing the cells to produce a functional dystrophin protein.
Conditional marketing authorization is an early access mechanism which allows the Agency to recommend marketing authorization for medicines that address an unmet medical need for patients suffering from life-threatening diseases even if comprehensive clinical data are not yet available.
The applicant for Translarna is PTC Therapeutics Limited. The company is registered as a micro-, small- or medium-sized-enterprise (SME), and as such benefited from support and incentives offered by the Agency's SME office.
Because Translarna has an orphan designation, the Agency provided free scientific advice to the applicant during the development of the medicine. Orphan designation and the associated incentives, such as free scientific advice or 'protocol assistance', are among the Agency's most important instruments to encourage the development of medicines for patients suffering from rare diseases.
The CHMP opinion on Translarna will now be sent to the European Commission for adoption of a decision on an EU-wide marketing authorization.