BioMarin Pharmaceutical Inc. announced that it has completed the phase 1 clinical study of BMN 195, a small molecule utrophin up-regulator, for the treatment of Duchenne muscular dystrophy (DMD). The phase 1 clinical trial was a single-centre, double-blind, placebo-controlled, single-dose escalation study followed by a multiple-dose escalation study in healthy volunteers.

The administration of up to 400 mg/kg did not achieve plasma concentrations believed to be required to increase utrophin expression. Moreover, plasma concentrations of BMN 195 were even lower on repeat administration. Based on these results, BioMarin has concluded that the likelihood of achieving a therapeutic effect in DMD patients is highly unlikely and has discontinued development of BMN 195.

"Duchenne muscular dystrophy remains a serious unmet medical need affecting approximately 40,000 patients in the developed world, and BioMarin remains committed to this disease area," said Jean-Jacques Bienaime, chief executive officer of BioMarin. "Given the limitations of BMN 195, we believe that other approaches to up-regulation of utrophin may be more possible, and we continue to believe that utrophin upregulation is a viable approach for the treatment of DMD. We are currently working on additional candidates to take forward into early human studies, and the new compound we are working on appears to overcome the limitations of BMN 195."

Duchenne muscular dystrophy is a fatal neuromuscular disorder that affects 1 in 3,500 boys with an estimated patient population of over 40,000 in the developed world.

DMD is caused by a genetic defect that results in DMD patients lacking an important protein called dystrophin, which is crucial to maintaining muscle integrity and function. The absence of dystrophin results in extensive muscle wasting in all voluntary muscles as well as the heart and breathing muscles and causes severe restriction in the mobility of DMD patients by their early teens and is ultimately fatal, generally in their twenties. Currently there is no cure for DMD. Corticosteroid treatment is the only frontline therapy and acts to only delay the progression of the disease.

BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. The company's product portfolio comprises four approved products and multiple clinical and pre-clinical product candidates.