Rare diseases: All the rage in Big Pharma

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Every once in a while, the stars align just right so that the itch to make a profit and to "do good" can both be scratched at the same time. And that is why pharmaceutical companies are jostling all over each other trying to get a piece of the action in rare diseases.

Have you ever heard of X-linked hypohidrotic ectodermal dysplasia? What about Fabry's disease? They are conditions that, while debilitating to those who suffer from them, impact so few people, it seems counterintuitive that giant pharmaceutical companies would be ramping up their R&D departments to find treatments and cures. But they are, with encouragement and help from the FDA and the Institute of Medicine.

Those who follow the pharmaceutical industry know about the coming "patent apocalypse." Generics are going to eat into the profits of Big Pharma as blockbusters go off patent. They need to find new proprietary technologies to create new revenue streams. And fast. And, to accommodate these new orphan drugs, as these medications are called--the FDA can offer expedited approval and fewer patients required for clinical trials. Possible expanded periods of exclusivity for rare diseases, giving drug companies extra incentive are also in discussion. Also, if the drugs work and offer better health advantages to patients, insurers are more likely to cover them. That's good for the patients, and good for the drug companies.

So, here are five orphans and the drug companies who love them.

Severe Combined Immunodeficiency (Bubble Boy disease)

What is it? Thanks to the media and popular culture, this is probably one of the best-known of the rare diseases even though It only effects about 1 in every 100,000 births. The genetic disorder, which renders the immune system practically nonexistent, first entered public consciousness with David Vetter, who died of the disease in 1984 after making news around the world for the sterile bubble in which he lived. Since then, the disease has been immortalized in public consciousness through popular culture outlets such as the TV show "Seinfeld." The standard treatment is a bone marrow transplant, with the hope that the new stem cells will produce new, healthy blood cells. But new techniques are focusing on gene therapy to fix the stem cells in the patient's own bone marrow. This marks a return to gene therapy to try to cure the disease after some high-profile failures in the 1990s.

Who's working on it? GlaxoSmithKline ($GSK) in partnership with two Italian groups, Fondazione Telethon and Fondazione San Raffaele, Genetix Pharmaceuticals, Targeted Genetics Corp. And investigators at Children's Hospital Boston are conducting a small trial of a new gene therapy to treat the disease. 

Gaucher disease

What is it? It's a rare genetic metabolic disorder in which there is not enough of the enzyme glucocerebrosidase. That results in the accumulation of harmful quantities of certain fats throughout the body, especially within the bone marrow, spleen and liver. There are three types, with Type 1 being the most common, effecting 1 in 50,000 live births, most often among those of Ashkenazi Jewish heritage. Treatment is most often enzyme replacement along with IV glucocerebrosidase. For enzyme replacement, there is quite a bit of competition among pharmaceutical companies.

Who's working on it? Shire's ($SHPGY) product, Velaglucerase alfa (trade name VPRIV) is a recombinant form of glucocerebrosidase used as a long-term enzyme replacement therapy. It has an identical amino acid sequence to the naturally occurring enzyme and received FDA approval in February 2010. Imiglucerase is Genzyme's ($GENZ) version of recombinant glucocerebrosidase. It is marketed globally under the trade name of Cerezyme. Protalix ($PLX) and Pfizer ($PFE) are working to bring taliglucerase to market in the United States. Last year, Amicus Therapeutics ($FOLD) suffered a severe setback when its therapy for Gaucher worked for only one of 18 patients in a mid-level trial.

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