GlaxoSmithKlineA rare genetic disorder, which was bereft of any effective treatment till now, has gained some acceptance by Big Pharma.

After US biotechnology giant Genzyme Corp, British behemoth GlaxoSmithKline (GSK) recently inked a licensing agreement forthe development and commercialisation of compounds for the disease –Duchenne muscular dystrophy (DMD) — which affects 1 in 3,500 boys.

DMD is a neuromuscular disease, which leads to the degeneration of muscles of the hips, pelvic area, thighs, shoulders, and eventually all voluntary muscles, including the heart, and breathing muscles, ultimately resulting in death. Survival beyond the early 30s is rare.

Estimates suggest that each year, approximately 20,000 children are born with DMD, making it the most prevalent of muscular dystrophies.

In India, rough estimates state the presence of about 1.5 lakh boys below the age of 15 years, who are affected by this disorder. At present, the available remedies for DMD are limited, with physiotherapy, diet modification, and steroids such as prednisolone and deflazacort (which also carry side effects like obesity, effect on kidneys, stunted growth, etc) being the only options.

Through this agreement, which was signed with Dutch biopharmaceutical company Prosensa, GSK would take to market four compounds intended to treat patients with DMD. It would get worldwide license to commercialise Prosensa's lead compound, PRO051.
The financial terms include an upfront payment of $25 million to Prosensa.

Furthermore, Prosensa is eligible to receive up to $655 million in milestone payments if all four compounds are successfully developed and is also entitled to royalties on product sales.

Some time back, Genzyme had sealed a similar deal with New Jersey-based PTC Therapeutics to develop and commercialise PTC124, an oral therapy for genetic disorders including DMD. Genzyme was to pay an upfront amount of $100 million to PTC, plus milestone and royalties on sales.
According to industry experts, the coming in of GSK and Genzyme presents a sunny picture for DMD and would encourage more such deals amongst leading companies for rare diseases.

"These alliances mean that the drug is promising enough for more and more pharma companies to be investing in. It also means that there will be a greater push, because there will be more funds to back this, as well as the urgency to bring it to the market," said Ruchika Batra, founder, parent project muscular dystrophy (PPMD)-Indian chapter, a parent-led initiative which is working to empower DMD-affected children to get medical care and newer treatments.
According to a Genzyme's US spokesperson, DMD fits in perfectly with the company's mission to develop new treatments for serious and life threatening diseases.

A spokesperson from GSK said the agreement shows the company's efforts to access novel science and technology platforms that have the potential to offer meaningful advances in medicine. "Our priority is to advance PRO051 into Phase III development. We also have options to license Prosensa's second lead compound, PRO044." DMD is caused due to the absence of the dystrophin protein, which is key for keeping muscle cells intact.
PTC124, now known as ataluren, allows the missing dystrophin protein to be made in patients who have a particular type of genetic change called nonsense mutation. "It is believed that ataluren may convert the severe DMD to a milder one (eg-Becker muscular dystrophy or BMD) or to normal functioning," said the Genzyme spokesperson.

PRO051 acts by skipping exon-51 of the dystrophin gene. Mutations in the dystrophin gene result in the absence of normal dystrophin protein, which is necessary for proper muscle cell function.

BS Ajaikumar, chairman and CEO of HealthCare GlobalEnterprises, a chain of cancer hospitals and parent of a DMD-affected boy, told, "At present DMD can only be mitigated, but not cured. New exon-skipping drugs should largely benefit affected boys."
These collaborations also point towards niche areas where future action lies, said Sujay Shetty, associate director, PricewaterhouseCoopers. "Gaucher's disease, DMD, various forms of cancers, and other rare diseases are areas where less competition exists, and are expensive therapies, and therefore more profitable."