NEA, Genzyme Join $18M Round For Rare Disease Startup Edimer

Edimer Pharmaceuticals has been bracing for this moment for four years. Its challenge? Enrolling infant patients—newborns just a week or two old—in a mid-stage clinical trial of its experimental drug, which is designed not only to fight an ultra-rare inherited disease known as X-linked hypohidrotic ectodermal dysplasia, or XLHED, but beat it.

The logistics are tough—Edimer has to find and identify pregnant women who are carriers of the defective gene that triggers the disorder, and then treat and track the progress of newborn babies that are ultimately born with it. But Edimer’s now got the financial backing of some industry heavyweights to help make it happen.

Cambridge, MA-based Edimer has secured an $18 million Series B round of equity financing. Perhaps more significant is that New Enterprise Associates and Sanofi-Genzyme BioVentures, the VC arm of rare disease giant Genzyme, have joined on as investors in Edimer. NEA led the round, which also included contributions from existing investors Third Rock Ventures (which founded Edimer) and VI Partners. NEA’s David Mott has joined the company’s board as part of the financing. NEA, Third Rock, Sanofi-Genzyme, and VI Partners also have board observer seats.

Edimer has now raised $40 million in financing since its inception in 2009, according to president and CEO Neil Kirby, a former executive at Lexington, MA-based Shire Human Genetic Therapies, the rare disease unit of Shire.

Edimer will use the cash to propel its experimental drug, EDI200, into a critical Phase 2 clinical trial in patients with XLHED, a rare, severe genetic disorder primarily found in boys for which there is no cure—further, no one else is developing a treatment for it. XLHED is characterized by a number of debilitating symptoms that, generally speaking, just make life difficult to live. Those include few, and often misshapen, pointed teeth (adult patients on average have about six), early hair loss (or sparse hair altogether), and a diminished—or completely lost—ability to sweat. These symptoms can trigger a whole host of serious problems and life-long inconveniences. Because certain XLHED patients can’t sweat, for example, going outside on a hot day could put them at risk for hyperthermia (when the body’s internal temperature rises too high), which can result in further disability or death. Affected kids also don’t have salivary glands. And because of reduced secretions of mucous, they’re predisposed to contracting lung infections.

Because there are no effective drugs for XLHED, the focus thus far has been on life-long management of the condition. Kids with the disorder often wear cooling vests to keep their temperature in check. It’s also not uncommon for two-year-olds with the disease to have dentures.

Edimer president and CEO Neil Kirby

“It really is rough on these kids,” Kirby says. “We’re trying to make a difference.”

Kirby says XLHED affects between six and 10 of every 100,000 newborns, and about 1,000 patients are born with it every year.

XLHED is caused by a mutation in the ectodysplasin, or EDA gene that leaves patients lacking a key protein called ectodysplasin-A, or EDA-A1, which is important in helping people develop teeth and hair. Edimer’s experimental drug, EDI200, is an engineered form of EDA-A1. By giving patients a replacement dose of that protein, the drug is designed to replicate its function, stem the side effects, and lead to normal development.

To date, EDI200 has only showed promise in mouse and dog models, and that it was safe for humans to take in an early study in adults with XLHED.

Edimer’s big challenge, then, lies ahead. Not only must it show that its drug works in human beings, but it has to recruit patients and execute the proper trial showing that it works in the group it wants to treat—newborn babies.

Edimer has spent the past 18 months identifying female carriers of the disorder who either are pregnant or want to get pregnant who have had affected children in the past. Once Edimer knows the genotype of the mother, it tries to find the genotype either of the fetus, in utero, using amniocentesis, or the baby within 72 hours of its birth. Edimer has three study sites in the U.S. (one on the East Coast, West Coast, and in the Midwest, respectively), and three it’s getting up and running in the U.K., France, and Germany to do this.

This, of course, presents a lot of logistical issues. As Kirby points out, not everyone wants to have amniocentesis—an invasive procedure that comes with a small risk of miscarriage— and this leaves Edimer in a “genetic crapshoot” of sorts tracking pregnancies and waiting for births of children with the disorder. Its goal is to get six to 10 newborns on the drug to fill up its study.

“It’s not an insignificant task,” Kirby says.

The payoff, however, could be massive. Edimer’s plan isn’t to turn this into a chronic therapy in the way that patients with other rare diseases, for example, take enzyme replacement therapy to keep getting the key protein they need. Rather, Edimer has found, in its animal studies, indications that its drug could wipe out the disorder altogether after a few doses at the right time. Specifically, by administering five separate doses of the engineered protein at a key window—within the first two weeks after a child with the mutated gene is born—a switch is, in effect, turned on that triggers normal development.

“If you give a short-course therapy of five doses—at least in the animals—early in life, you can correct the entire phenotype of the disease for life,” Kirby says. “It’s almost like a trigger that needs to be there—if it’s not there at the right time of development, these appendages [like] sweat glands, hair, teeth, other glandular structures, do not form.”

Thus, Edimer’s plan in its trial is to dose these infants with the drug five times during their first two weeks of life, and track their results over the next six months. Edimer will look for things like impact on respiratory disease, number of hospitalizations, sweating, and sweat pore formulation. A follow-up study will track the patients for “as long as we need to,” according to Kirby, or maybe “as long until we get approved.”

“The idea there is to just keep gathering these longer term endpoints, because not all of them are going to be apparent in the first six months of life,” he says.

The FDA and European Medicines Agency have already granted EDI200 an orphan drug designation, which gives it longer market exclusivity. The FDA has also given the drug fast-track status, giving Edimer a quick roadmap should it get the results it’s hoping for.

“If we are as successful in this Phase 2 as we have been in treating dogs, for example, I think there is a pretty good case to be made then to add a few more patients and then look towards an accelerated approval pathway,” he says, before quickly adding, “but it all depends on the data.”

The cash gives Edimer a minimum of a three-year runway, and in addition to funding both the trial and its research activities, will help the company make two key hires: a business development/commercial specialist, and another to help drive patient recruitment in its study.

Plus, given the scalding hot IPO market, Edimer could be headed in a direction it hadn’t originally considered. Kirby says the company’s initial plan was to usher EDI200 through a proof of concept study before finding a big partner to help commercialize it—but that things may change now.

“I think with a little bit more dry powder and what we have in front of us, I think it might be worth having a conversation about the strategy going forward,” he says. “It’s certainly something we’re going to be talking about as the new board gets together.”

Ben Fidler is Xconomy's Deputy Editor, Biotechnology. You can e-mail him at Follow @benthefidler

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