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.
“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
