Gene Therapy and Epidermolysis Bullosa

James Radke

At the Society for Investigative Dermatology conference last week, data on Abeona’s gene therapy to treat chronic wounds in patients with epidermolysis bullosa (EB) was presented. The ongoing Phase 1/2 trial continues to impress.
In the Phase 1/2 trial, Abeona is using gene therapy techniques to add Collagen VII to skin grafts that can be applied to large chronic wounds often observed in EB. The grafts were given to 6 patients with non-healing chronic wounds, and the primary outcome measures were safety and wound closure.
Zurab Siprashvili, PhD and his Abeona colleagues presented the results during an oral presentation, showing that the grafts were well-tolerated and effective in improving wound healing.
At 3, 6, 12, 24, and 36 months, wound healing was observed with most grafts, whereas none of the 4 wounds that were not treated with the gene therapy showed improvement (as defined as 50% or more wound healing).
An example of wound healing that occurred using the gene therapy is shown below.
To help put this data in perspective, Solis et al presented wound-healing statistics from a supportive natural history study of 1,436 wounds in 128 patients with EB.  Most notably, the natural history study found that An example used in their poster presentation of a slow wound healing is shown below.

About Epidermolysis Bullosa (EB)

Over 50,000 of people around the world suffer from a rare skin disorder called epidermolysis bullosa (EB). Their skin is fragile like butterfly's wings and falls apart after a slightest touch. The pain can be so unbearable that cases of euthanasia, in the countries where it is permitted, have been reported to end the patients' sufferings.  
In the video below by Berkeley student Julia Vassey, doctors at Stanford as well as one of the EB patients in the gene therapy trial, talk about the rare condition and the clinical trial.


Siprashvili Z, Nguyen NT, Gorell ES, et al. Phase I/II clinical trial for Recessive Dystrophic Epidermolysis Bullosa using genetically corrected autologous keratinocytes. Presented at the Society of Investigative Dermatology Meeting; Portland, OR; April 26-29, 2017.

Solis D, Nazaroof J, Dutt-Singkh Y, et al. Natural History of Wounds in Recessive Dystrophic Epidermolysis Bullosa. Presented at the Society of Investigative Dermatology Meeting; Portland, OR; April 26-29, 2017.
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