Since we started Rafi’s Run 4 years ago, HUGE STRIDES have been made on the research front and we are more excited than ever at the prospect of a real treatment for people with EB. The money you have helped us raise has been instrumental in ensuring that a treatment is on the horizon.
NEWS from Rafi’s Run funded research:
One of the problems people with Rafi’s type of EB face is damage to the cornea. Recurrent corneal erosions are a painful symptom and experiences by 74% of those with Rafi’s type of EB. The erosions lead to scarring which leads to loss of vision. Money from Rafi’s Run is funding a type of cell therapy to solve this issue. Researchers are using a type of stem cell, called a limbal stem cell, to attempt to regenerate the cornea. These researchers are reprogramming an individual’s own skin cells and corneal epithelial cells from a donor into these limbal stem cells and will measure the effectiveness of each reprogrammed cell to determine which will work best in those with EB. This type of cell, the limbal stem cell, has shown remarkable results when transplanted into the eyes of those people who have suffered chemical burns in their eyes.
Rafi’s Run money has enabled researchers from the University of Minnesota to correct the genetic mutation that causes Rafi’s type of EB. Essentially, it’s the genetic code that allows a cell to produce proteins, and in Rafi’s case that is collagen 7. When there is a mutation in the genetic code, the cell is unable to produce a working version of the protein if it produces it at all. These researchers, by editing the actual genetic code from an EB person, have been able to provide cells with the correct code which has led to those new cells being able to produce the healthy protein in normal quantities.
Now we have to take this result, and turn it in to a medicine or a therapy. Work is now being done to figure out how to safely and effectively deliver these new cells into the patient.
Other News in EB Research
Stanford University – Gene Therapy
Researchers from Stanford have been able to take a skin cell from someone like Rafi, correct the mutation in the genetic code in the cell, create new healthy cells from that gene corrected cell, turn those new cells into skin cells, then grow new skin and graft it back on to the patient. As of right now, those areas of new skin that were grafted on, have proven to be completely normal. This is incredibly exciting news. Those with EB may have wounds that never heal, causing pain and infections. Now we may have an answer for that problem.
Scioderm is a venture backed biotechnology company (having raised more than $30 million to date) that is beginning phase 3 clinical trials testing the effectiveness of their cream. The theory is that the cream will decrease the time it takes a wound to heal dramatically while simultaneously decreasing the ever present itch associated with the disease.
Shire is continuing to develop their protein replacement therapy. The idea is that Rafi would be able to get the protein via IV, and that would result increased wound healing and a decrease in the overall symptoms of EB. Rafi was able recently to meet with Flemming Orskov, the Chief Executive Officer or Shire, and we have been told that only strengthened their resolve to bring a therapy to market.
With their partnership with Intrexon, Fibrocell has been able to create a synthetic gene to be used as a medicine for local treatment of chronic, non-healing wounds. They will be launching a phase 1 clinical trial in the second half of 2015.