The images of children flashing on the screen look like burn victims, covered in blisters, open wounds and festering sores. Its hard not to notice the little fingers fused together into a club, a result of lifelong skin damage and permanent scarring.
They are called butterfly children because their skin is as fragile as the gossamer wings of a monarch or a swallowtail. Many dont make it past childhood and few get to their 30th birthday.
Robert Ryan, a Durham medical executive, has grown accustomed to showing these disturbing photographs to strangers of the disease. As CEO of Scioderm, he has spent more than two years approaching venture capitalists with his startup companys strategy for treating sores caused by the rare skin disease, finally raising $16 million this year.
Scioderms experimental treatment for Epidermolysis bullosa, or EB, is generating attention as one of the few efforts to treat the rare condition, which has no known cure. The genetic connective-tissue disorder prevents skin layers from binding properly; the result is fragile skin that causes unbearable itching, excruciating pain and eating complications that can require the use of feeding tubes.
Scioderms product is one of only 19 medical treatments to date that has received breakthrough therapy designation status from the U.S. Food and Drug Administration. The designation, intended to expedite development of medicine for life-threatening conditions, is given to drugs that have demonstrated early proof of substantial improvement in available treatment.
The impact would be huge, said Brett Kopelman, director of a New York nonprofit dedicated to EB awareness, the Dystrophic Epidermolysis Bullosa Research Association of America, or DEBRA.
Stories of aid shared
Some of these kids cant even wear sneakers, said Kopelman, whose 5-year-old daughter has EB. Youre talking about quality-of-life changes that are almost immeasurable.
The companys medication, provisionally called SD-101, is a skin cream that causes the wounds to heal quicker and heals wounds that normally would fester for more than a year, Ryan said. It does not treat the underlying genetic causes of the disorder.
In a 2010 study of eight patients, seven experienced closure of lesions within a month.
A 4-year-old in the study, who had never worn shoes because of chronic wounds, was able to wear shoes for the first time, Ryan said.
Scioderm, which has six employees, plans to conduct a trial on 28 patients this summer and expects to run the third and final test on about 100 people next year, before the product could be sold commercially.
The insurance factor
The key to Scioderms business strategy is the anticipated level of insurance coverage. Ryan said the average insurance payment for such medications that treat rare diseases is $60,000 a year per patient.
The justification for the insurance coverage is that its cheaper than the alternative for chronically ill patients. Scioderm hasn't yet priced its experimental cream, but EB patients can require home nurses, copious bandages, hospital visits, feeding tubes, opiates and other pain killers. The need for some of that care could be alleviated by Scioderm's cream.
It meets a very serious medical need for which there is no alternative, said Chris Christofferson, head of the Life Sciences Team of Morgenthaler, a California company that put up half the $16 million in venture capital this year. The alternative, if the drug is not reimbursed and not used, can be $500,000 or $1 million in medical costs.
Research and development of SD-101 goes back to the 1990s by a Minnesota company called Alwyn, which makes psoriasis creams and other over-the-counter drug store products. Scioderm, which has no other products, has had an exclusive right to acquire the full rights to develop and market SD-101 and closed on the deal this year after raising $16 million in venture funds.
The number of EB cases in this country is estimated between 20,000 and 40,000, Ryan said. Some have tried genetic therapy, such as bone marrow transplants, but with limited success.
The victims are often bandaged to cover their wounds in public and prevent skin exposure and potential tearing. Few people have heard of EB and a chance encounter can result in revulsion and horror.
Or a lawsuit.
The U.S. Justice Department recently filed a discrimination lawsuit after a manager of a Golden Corral restaurant in Michigan demanded that a mother and her four daughters, including a toddler with EB, immediately leave the premises.
The federal agency last month settled the suit with the restaurant for $60,000. Raleigh-based Golden Corral, which franchises some of the restaurants bearing its name, was not named in the federal discrimination suit.
Not all public contact with EB has to be painful.
Megan Barron, a recent graduate from Duke University, was recently featured in an online profile by ABC News as an example of someone who has kept her dignity and hope.
Barron, who was not available for comment this week, is able to type because her thumbs were surgically freed, according to the ABC story.
I wasnt supposed to make it out of the hospital, Barron told ABC. At some point, you have to let go of the expiration date mentality, and the world keeps turning.