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Edimer, Third Rock’s Bet on Rare Diseases, Aims to Begin First Human Tests

Xconomy Boston — 

Edimer Pharmaceuticals wants to break new ground in the treatment of patients with an ultra-rare genetic disorder called X-linked hypohidrotic ectodermal dysplasia, or XLHED. And the small venture-backed operation based in Cambridge, MA, is tapping the talents of some of the area’s rare disease veterans to try to pull it off.

The firm, with primary financial backing from Third Rock Ventures in Boston, has been laying the foundation for its hoped-for clinical trials for more than a year. Edimer has been doing various studies in hopes of asking regulators for permission to begin initial human trials of a protein-based drug for XLHED in the second half of this year, company CEO Neil Kirby says. The treatment has the potential to be the first drug specifically for the disorder.

A severe disease, it can cause patients to have few and pointed teeth, sparse hair, and thin skin. Most prevalent in boys, the disease can rob them of their ability to sweat when they need to prevent their bodies from overheating, among other symptoms. (Charles Darwin, having seen people with the disease in the late-1800s during a trip to what is now Pakistan, described them as “the toothless men of Sind.”) It can also lead to frequent pulmonary infections because patients lack the ability to produce enough mucus to clear infectious invaders from their lungs. The infections can be fatal.

There are only about 1,000 new cases of the disease diagnosed in the U.S. and Europe per year, according to Kirby. He certainly knows what it’s like to pursue a market like that, given his prior executive experience at Lexington, MA-based Shire Human Genetic Therapies (formerly Transkaryotic Therapies) from 2002 to 2007. The scant incidence of XLHED places it in a category of ailments that some call “ultra-orphan” diseases. One advantage: Kirby says that he knows of no other group that is developing a treatment for the disorder. Lack of competition also means there’s likely to be strong demand for any effective new therapy for this condition.

Cambridge, MA-based Genzyme (NASDAQ:GENZ), for example, has made billions of dollars selling rare disease drugs that cost hundreds of thousands of dollars annually for each patient who takes them. Shire HGT, Kirby’s former employer, is a fast-growing unit of Dublin-based Shire and brought in more than $900 million in revenue last year from sales of a handful of rare disease drugs. Both Shire and Genzyme have developed drugs for the rare genetic disorders known as Fabry and Gaucher diseases.

While patients with those rare diseases have multiple treatments that target their disorders, those with X-linked hypohidrotic ectodermal dysplasia haven’t been so fortunate. To control their body temperatures, and to compensate for the fact that their disease inhibits the development of sweat glands, people with the illness wear cooling vests and have to restrict their exposure to heat. (Imagine having to tell your child that he or she has to stay indoors on a beautiful, yet hot, summer day.) They might also opt to get dental implants, which often require reconstructive surgery to their jaws.

“It’s heartbreaking to go to these meetings and see a two or three-year-old wearing dentures,” Kirby says.

XLHED is the most prevalent form of ectodermal dysplasias, of which there are more than 150 types. And apparently, there’s been some excitement among patients in Edimer’s experimental drug. At a 2009 meeting of a patient group called the National Foundation for Ectodermal Dysplasias in Williamsburg, VA, Kirby says that people gave him big applause for his company’s efforts to develop its treatment. Kirby also keeps a photo on his desk of kids with the disease who are holding up a “Thank You” sign.

Edimer’s drug is a protein-based compound that features a recombinant piece of the naturally occurring protein called EDA-A1. Patients with XLHED lack functional EDA-A1, which is important to the development of teeth, hair, and skin. The firm’s treatment, code named “EDI200,” has shown promise in replacing the function of the naturally occurring protein in mouse and dog models of the disease, according to the company. The firm hopes it can replicate some of those benefits in humans with the disorder.

Indeed, Edimer Pharmaceuticals was formed in summer 2009 to develop EDI200, so the group has a lot riding on the success of this drug. (There are early signs that the drug might have other applications in regenerative medicine in other areas of health.) Kirby says he came across the compound while serving as an entrepreneur-in-residence at Third Rock . The drug is based on the early research of Jürg Tschopp and Pascal Schneider at the University of Lausanne in Switzerland, and at one point the compound was the property of the Swiss biotech firm Apoxis. Yet Denmark-based drug developer TopoTarget bought Apoxis in 2007, primarily for what Kirby said were separate assets in Apoxis’ pipeline.

The XLHED treatment was in need of investment to continue its development. At Third Rock, Kirby had been working with venture partner Philip Reilly to scout for opportunities in the rare diseases market when the opportunity to invest in the XLHED compound arrived. Third Rock took the lead in a $22 million Series A announced in June 2009 to finance Edimer, and the new firm also attracted funding from VI Partners in Zug, Switzerland. Kirby says that the funding is enough to advance the drug to a point where the group can see some early evidence of its effects in humans.

In fact, Third Rock—co-founded by general partner Mark Levin, a former CEO of Millennium Pharmaceuticals (now part of Takeda)—has made the field of rare diseases therapies one of its areas of focus. Kirby says that the venture firm also invested in Bluebird Bio (formerly Genetix Pharmaceuticals), a developer of gene therapies for rare diseases, as part of its concerted effort to increase its stake in the field. While a bit dated, a story I wrote last year covers the growing interest in rare diseases among big drug companies.