Bret Kopelan’s daughter Rafaella, now eight, was born without skin on her feet and had to have emergency care when her skin began to blister. She suffers from a rare disease that had no effective treatments currently because it doesn’t affect enough people to make it commercially viable for most drug companies. So Kopelan is hopeful that a Durham company’s treatment gets to market quickly and helps his daughter.
Kopelan, executive director of The Dystrophic Epidermolysis Bullosa Research Association of America, tells WRAL TechWire he’s enthused about the topical treatment developed by Durham-based Scioderm called Orbital. Already designated an orphan drug here and in Europe, the FDA has agreed the company should submit a rolling New Drug Application. That will speed up the review process.
See https://wraltechwire.com/drug-to-treat-rare-disease-will-get-accelerated-fda-review/14772952/ for details.
Kopelan said that when his daughter Rafaella, Rafi for short, was born, she was missing skin on the back of her hands and had none on her tiny feet. The doctors said she was just a bit “over-cooked” because she was two weeks late. But six hours later she was taken to an emergency unit and was blistered all over.
“The Earth fell out from beneath my feet,” says Kopelan. “We didn’t know if she would ever come out of the hospital.”
The rare disease Rafaella suffers was only diagnosed by chance when a a pediatric dermatologist who had had experience with Epidermolysis Bullosa (EB), heard someone asking what could be causing the blisters when walking by her hospital room.
Kopelan called his brother who is a surgeon. “I knew we were in trouble because of his response.”
They heard about an experimental treatment, a stem cell transplant, and moved from New York City to Minneapolis for several years so Raefella could undergo the bone marrow transplant. “It was considered a medical success because she is producing some collagen now, but it was far from curative.” They’ve since returned to New York.
The approved treatment for the disease is a painful bandage and bathe procedure. “Rafaella knows she’s going to undergo it every day and that it hurts, but she comes into the room on her own. She goes to regular school and is at camp now and loving it. She has a great spirit.”
A few months after the disease was diagnosed Kopelan was elected to the board of The Dystrophic Epidermolysis Bullosa Research Association of America, and says, “I want to know every international researcher in the field and funnel money to them.”
He didn’t have to funnel any money to Scioderm, which raised venture capital to develop Zorblisa. “They didn’t need our money,” he says.
He is excited about what he sees as promising results of the drug’s clinical trials so far. “It has a good safety profile and in Phase 2 seemed to have good results.”
In that trial the drug did heal blisters faster and helped some wounds that had never healed previously.
“If you can heal those wounds faster and some that haven’t healed for three years, it would be a huge quality of life change. The current treatment is painful and stressful. Imagine skinning your knee badly and then taking a shower. It stings. This is much worse.”
Rafaella has her own web page: http://www.rafisworld.com/daily-updates/
