making muscle wasting history

Exciting new clinical trials to develop treatment for Duchenne Muscular Dystrophy

Leading pharmaceutical development company for serious diseases and medical conditions undertakes first steps in bringing new treatment for DMD to market

• Article Posted: 25 January 2010
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Action Duchenne states that BioMarin Pharmaceutical Inc’s announcement of initial Phase 1 trials in the clinical study of BMN 195, a small molecule utrophin upregulator for the treatment of Duchenne Muscular Dystrophy (DMD), which, if successful, could result in an effective new treatment for all DMD patients regardless of their genetic abnormality. BioMarin’s clinical trial will be carried out in healthy volunteers, to test the safety of the compound and enable subsequent studies in patients with DMD. BioMarin has indicated that initial topline results are expected in the third quarter 2010.

“We are very excited by this trial. DMD affects nearly 40,000 patients in the developed world and we see this clinical study as the first step along the road to developing therapeutic options to treat this disease,” said Dr. Adrian Quartel, Medical Director at BioMarin Europe.

“In pre-clinical studies in mice with mutations in the normal dystrophin gene, BMN195 was shown to improve muscle strength. While not a cure for this disease, it has the potential to treat the entire spectrum of DMD patients, regardless of genetic abnormality, to improve the symptoms and the quality of life of the patients.”

Action Duchenne supported the early work on investigating utrophin upregulation as a therapy carried out by Professor Dame Kay Davies, Director of MRC Functional Genomics Unit at the University of Oxford. During research on dystrophin over twenty years ago, Professor Davies discovered that the utrophin protein exists mainly at the junction where the nerve meets the muscle cell and is expressed in every cell in the body at different levels, not just muscle and the brain like dystrophin. Present in early human foetal development, utrophin is down regulated in the muscle membrane at birth and dystrophin is increased. Through recent trials on the mdx mouse, Professor Davies’ team identified the possibility that increased levels of utrophin could potentially operate as a substitute for dystrophin.

More recent collaboration work with Summit plc on several compounds led to the identification of the compound now in the clinical trial being undertaken by BioMarin. The latest trials of BMN 195 are intended to test the safety of the compound and the delivery vehicle into the body.

Professor Dame Kay Davies commented; ”I am very excited that this trial has now started. This is a very important step in the use of utrophin up-regulation for the treatment of DMD which will be applicable to all patients."

According to Nick Catlin, CEO of Action Duchenne; “These latest clinical trials represent a crucial step forward in our search for treatments for DMD and underlines the importance of our continued fund raising activities. Action Duchenne’s support for Professor’s Davies’ early investigations into utrophin has provided the foundations for this latest development with BioMarin.

“Through academic and scientific research, the first steps have been taken to develop possible new treatments for patients of DMD. It is now more important than ever that we continue to raise funds to support further research that will in the future make a real difference to DMD patients and their families.”

http://www.bmrn.com/pipeline/utrophin-inducer.php