Rare Daily Staff

Abeona Therapeutics said updated clinical data from the ongoing phase 1/2 trial for its experimental gene therapy for the rare metabolic disorder Sanfilippo syndrome Type A, or MPS IIIA, showed time and dose dependent reductions in the underlying signs of the disease including evidence of cognitive improvement.

Sanfilippo syndrome is caused by an SGSH enzyme deficiency that prevents people with the condition from properly breaking down a specific type of sugar molecule. As a result, waste fragments accumulate in cells, causing symptoms such as progressive dementia, aggressive behavior, hyperactivity, and seizures.

In a presentation at WorldSymposium for Lysosomal Diseases in San Diego, researcher reported that results from the ongoing study showed that Abeona’s gene therapy known as ABO-102 produced robust and durable clinical effects throughout various timepoints post-administration in 10 patients dosed to date.

“MPS IIIA is a profound and deadly lysosomal storage disease with no approved treatments available,” Kevin Flanigan, principal investigator of the trial and director of the Center for Gene Therapy at Nationwide Children’s Hospital. “The encouraging clinical data reported today provide strong additional support for a whole-body treatment approach involving intravenous delivery of an AAV to drive expression of the SGSH enzyme in all organs of the body, with an emphasis on expression in the central nervous system.”

In the trial, subjects received a single intravenous injection of ABO-102 to facilitate systemic delivery of a corrective copy of the gene associated with onset and progression of MPS IIIA.  Subjects were evaluated at multiple time points post-injection for safety assessments and signals of biopotency and clinical activity.

“Results thus far from the ongoing ABO-102 clinical trial support the tolerability of a systemically delivered AAV approach for the treatment of lysosomal storage diseases,” stated Timothy Miller, president and CEO of Abeona Therapeutics.

February 8, 2018

Photo: Timothy Miller, president and CEO of Abeona Therapeutics