Trial Results Are Positive For Two Rare Disease Gene Therapies

Abeona Therapeutics Inc. last week updated clinical data from the Phase 1/2 trial for ABO-102 (AAV-SGSH), the company’s clinical gene therapy for the treatment of Sanfilippo syndrome type A (MPS III A) and from the Phase 1/2 trial for EB-101, a gene-corrected skin graft cell therapy for patients suffering from recessive dystrophic epidermolysis bullosa (RDEB).

Abeona is a clinical-stage biopharmaceutical company focused on developing novel cell and gene therapies for life-threatening, rare genetic diseases.

The clinical updates were presented during the 21st Annual Meeting of the American Society for Gene and Cell Therapy (ASGCT) in held in Chicago.

Sanfilippo Syndrome Update

MPS IIIA is a rare, autosomal-recessive, lysosomal storage disease that results in the accumulation of the heparan sulfate.

To date, 11 patients have been dosed with a single intravenous injection of the ABO-102 gene therapy for systemic delivery of a functional copy of the missing SGSH gene associated with onset and progression of the disease.

The SGSH gene provides instructions for producing an enzyme called sulfamidase, according to the U.S. National Library of Medicine at the National Institutes of Health (NIH). The enzyme is located in lysosomes, compartments within cells that digest and recycle different types of molecules.

Sulfamidase is involved in the step-wise breakdown of large molecules called glycosaminoglycans (GAG), which are composed of sugar molecules that are linked together to form a long string.

To break down these large molecules, individual sugars are removed one at a time from one end of the molecule. Sulfamidase removes a chemical group known as a sulfate from a sugar called glucosamine when it is at the end of the GAG chain, the NIH medicine library reports.

“Children with MPS IIIA experience devastating quality of life consequences including neurocognitive decline, speech and mobility loss, and premature death,” stated Carsten Thiel, Ph.D., CEO of Abeona. “We feel encouraged by the strong data demonstrated thus far in this trial, showing significant dose- and time-dependent improvement of the underlying disease pathology.”

With the recently granted Regenerative Medicine Advanced Therapy designation, Thiel said the company plans to continue regulatory discussions to advance the therapy.

Click here for detailed assessments of the Phase 1/2 trial for ABO-102 (AAV-SGSH) as presented at ASGCT.

Recessive Dystrophic Epidermolysis Bullosa Update

Abeona’s EB-101 product is an autologous, ex-vivo gene-corrected cell therapy in which the COL7A1 gene is inserted into a patient’s own skin cells (keratinocytes) for the treatment of the underlying disease in recessive dystrophic epidermolysis bullosa.

RDEB patients suffer throughout their lives from intense pain, life-threatening complications, and face a shortened life expectancy. Currently there are no effective treatments available to reduce the severity of their symptoms, according to Abeona CEO Thiel.

Conducted at Stanford University School of Medicine, the completed Phase 1/2 clinical trial included seven patients with 42 gene-corrected EB-101 grafts, with the first patient treated over three years ago with lasting effects and closed wounds to date.

In the trial, EB-101 was administered to non-healing chronic wounds on each subject and assessed for wound healing at predefined time points.

The trial met the primary endpoints for safety, tolerability, and preliminary efficacy, where wound healing after EB-101 administration was compared to untreated wounds from a supportive natural history study that evaluated 128 patients with approximately 1,500 chronic and recurring RDEB wounds.

Secondary endpoints included expression of collagen C7 and restoration of anchoring fibrils at three- and six-months post-administration respectively. The wound healing effects of EB-101 were associated with meaningful reductions in pain and itch, as reported through patient recorded outcomes.

“The advancements made through this trial are clinically meaningful, showing significant and durable wound healing results and improved quality of life in these patients,” Thiel said. “Together with the FDA, we are working to finalize the design of our pivotal Phase 3 trial for this program and are defining the pathway forward for the study to begin later this year.”

Click here for detailed data of the Phase 1/2 trial for EB-101 as presented at ASGCT.

(Sources: Abeona Therapeutics Inc.; National Institutes of Health; U.S. National Library of Medicine)