Rare diseases: All the rage in Big Pharma (page 2)

Urea cycle disorders

What is it? It is is basically a series of steps in which nitrogen, a waste product of your metabolism, is removed from your blood and converted to urea, which is excreted through the urine. If you are among the estimated 1 in 10,000 in the United States who was born with a urea cycle disorder, you lack one of the key enzymes that make up the urea cycle. That causes the nitrogen to accumulate in the form of ammonia. Too much ammonia in the bloodstream and bad things can happen, including brain damage, coma or death.

Who's working on it? Hyperion, based in South San Francisco, seems to be alone in developing new treatment. The company has an investigational new drug currently undergoing testing. It's glycerol phenylbutyrate (HPN-100), and it recently met its primary endpoint in a Phase III study. It was a pivotal study that should enable the company to file an application for U.S. approval of the drug before the end of next September, Christine Nash, Hyperion's vice president of marketing, told Xconomy. Nash estimated the market for the treatment to be in the "$200 million-ish" range. Hyperion's $60 million VC deal last year made Fierce's list of the Top 20 Biotech Deals of 2009. Medicis Pharmaceutical ($MRX) also has a treatment.

Fabry disease

What is it? It is a rare inherited lysosomal storage disorder that affects about 5,000 to 10,000 people around the world. Those who suffer from the disease do not have enough of an enzyme called α-galactosidase A (α-Gal A). Long story short, if there is not enough of this enzyme, it cannot do its job, which is to break down a lipid called GL-3. Too much GL-3 and then Fabry disease symptoms kick in, including pain, kidney failure, and increased risk of heart attack and stroke. Oh, and yes Fabry disease was featured in Episode 113 of the TV show "House."

Who's working on it? As mentioned earlier, Amicus Therapeutics struck out in trials for a Gaucher disease drugs. However, that was not the only rare disease in its quiver. It has a Fabry disease drug called Amigal, and for that it has found a high-power partner, GlaxoSmithKline. An elated CEO John Crowley called the pact a "transformational event for Amicus." Under the agreement, Amicus will receive $60 million in upfront license payment and equity investment and eligible for approximately $170M million in future potential milestone payments. The oral drug is currently in Phase III trials. Also, Shire and Genzyme have expensive replacement enzymes.

X-linked hypohidrotic ectodermal dysplasia

What is it? Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth and sweat glands. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature. So, no sweat and body temperatures can turn dangerously high. The rare genetic disease, affects 1 in 17,000 people and not only robs them of their ability to sweat, it can also stunts normal development of teeth and hair.

Who's working on it? Edimer Pharmaceuticals and CMC Biologics are partnering on a drug, EDI200, a clinical-stage recombinant protein.

Rare diseases: All the rage in Big Pharma (page 2)

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