EspeRare Foundation, a private non-for-profit organisation,  has announced that the European Medicines Agency (EMA) has granted an Orphan Drug Designation (ODD) for rimeporide, its lead compound for the treatment of Duchenne muscular dystrophy (DMD).

DMD is a rare, life-threatening disease affecting boys early in childhood that causes muscle weakness and muscle loss. It is the most common and serious form of paediatric muscular dystrophies.

Rimeporide is a selective sodium/proton exchanger type-1 inhibitor, originally developed by Merck Serono in the intended indication of congestive heart failure.

In clinical studies to date, rimeporide was shown to have a clinically acceptable safety profile in adults. Rights to rimeporide were transferred to EspeRare in 2013. Since then, EspeRare successfully conducted two non-clinical studies at the Children Medical Centre in Washington (USA) and the University of Geneva (Switzerland).

The results were presented at the ICNMD XIII Congress on Neuromuscular Diseases in Nice (France) last year.

“Rimeporide’s potential to address skeletal muscle inflammation, fibrosis and cardiomyopathy in a broad population of patients, regardless of their mutational status, could make it an ideal complement to treatments designed to augment or replace dystrophin. Obtaining this ODD is an important milestone for rimeporide and supports its clinical development,”  said Florence Porte-Thomé, EspeRare’s Researc and Development director.

The decision, which was made consequent to a positive recommendation from EMA's Committee for Orphan Medicinal Products, represents the first time a sodium/proton exchanger inhibitor has received orphan status for DMD in Europe, positioning this mode of action as an innovative therapeutic approach for DMD.

Leveraging on robust safety and nonclinical efficacy evidence to support clinical development, EspeRare will launch the first clinical study in boys with DMD during the second half of 2015 to investigate the safety, tolerability, pharmacokinetics and pharmacodynamics of this drug candidate in these patients.

“The nonclinical package indicates rimeporide’s potential to transform Duchenne muscular dystrophy from a life-threatening to a chronic disease,” said professor Denis Duboc, Cardiologist at the Hospital Cochin in Paris.

Obtaining this orphan drug designation for rimeporide is a demonstration that dormant therapeutic assets can show potential to treat patients affected by orphan diseases. This success encourages EspeRare to further build on its model by expanding its partnerships with biopharmaceutical companies and working towards building a robust portfolio of programmes for patients affected by these underserved diseases.

Duchenne muscular dystrophy (DMD) is a rare genetic paediatric disease that affects approximately 1 in 3,500 male babies worldwide. It is a rapidly progressive form of muscular dystrophy caused by a mutation in a gene which encodes the dystrophin protein. Its absence causes progressive skeletal muscle degeneration leading to a loss of ambulation around the age of 10. Then progressive respiratory muscle weakness and cardiac failure both represent major life-threatening complications. Today there is no cure for DMD.

EMA's Orphan Medicinal Product designation is designed to promote the development of drugs that may provide significant benefit to patients suffering from rare, life-threatening diseases. In addition to granting 10 years of market exclusivity, the designation also provides special incentives for sponsors including eligibility for protocol assistance, possible exemptions or reductions in certain regulatory fees during development or at the time of application for marketing approval.