EB-101 is a gene therapy, being developed by Abeona therapeutics, for the treatment of recessive dystrophic epidermolysis bullosa (RDEB), an inherited skin disorder caused by defects (mutations) in the COL7A1 gene coding for type VII collagen. Gene therapies typically aim to treat a disease by delivering the correct copy of a gene into the patient’s cells, especially those diseases caused by a single genetic defect.

How EB-101 works

Patients with RDEB lack a protein called type VII collagen, which is an important component of the anchoring fibrils that attach the epidermis (top layer of the skin) to the dermis (layer of skin below the epidermis). This lack prevents the upper skin layer from binding with the lower, causing symptoms such as chronic skin blistering, and open and painful chronic wounds on skin and mucus membranes.

EB-101 gene therapy consists of a correct copy of the COL7A1 gene packaged into a virus, called a retrovirus, which is used to transfer it into a patient’s skin cells (keratinocytes) that were first cultured in the laboratory outside the patient’s body (ex-vivo). Following the gene transfer, the skin cells are allowed to grow and form sheets that serve as skin grafts, expressing the functional type VII collagen protein. These genetically engineered skin grafts are then transplanted onto the patient with the aim of treating the wounds and blisters, and restoring normal type VII collagen expression in the skin.

EB-101 in clinical trials

A Phase 1/2 clinical trial (NCT01263379), conducted by Stanford University, is currently recruiting RDEB patients, ages 13 and older, for its ongoing Phase 2 portion. In this trial, EB-101 is administered to non-healing chronic wounds on each participant, and assessed for wound healing at predefined time points over years. Its primary goals are to assess the safety of EB-101 and evaluate wound healing after EB-101 administration compared to untreated wounds. Secondary goals include the expression of type VII collagen and restoration of anchoring fibrils at three and six months after the therapy’s administration.

Clinical data from the trial’s initial phase, recently presented at the Society for Investigative Dermatology (SID) conference, showed that EB-101 treated wounds were significantly healed (more than 50 percent healing) for more than two years after administration. EB-101 demonstrated significant wound healing in 100 percent of treated wounds at three months in the six treated patients, 89 percent of treated wounds at six months, 83 percent of treated wounds in four patients at 12 months, 88 percent of treated wounds in four patients at 24 months, and 100 percent of treated wounds in one patients at 36 months post-administration. Wounds treated on all patients were chronic and unhealed wounds of a mean 8.5 years duration prior to the use of the gene therapy.

EB-101 treated wounds also showed normal expression of type VII collagen protein and anchoring fibrils for up to two years post-administration.

Other information

The U.S. Food and Drug Administration (FDA) granted rare pediatric disease designation for EB-101 gene therapy for patients with dystrophic epidermolysis bullosa (DEB), including RDEB, in May 2017. This designation is expected to speed FDA review of the therapy should Abeona apply to request its approval and marketing.

The EB-101 gene therapy program has also been designated an orphan drug by the FDA and the European Medicines Agency (EMA), a status which gives its developer incentives to continue research into a potential treatment for a rare disease.

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