Children with Sanfilippo Type A Given Gene Therapy Showing Signs of Stabilization

James Radke

At the Alliance for Regenerative Medicine’s Cell & Gene Meeting on the Mesa held in La Jolla, CA, Abeona Therapeutics, Inc. provided an update on its gene therapy trial for patients with Sanfilippo syndrome Type A (MPS IIIA).

The Phase 1/2 trial is an ongoing study in which 6 patients with MPS IIIA were given a single intravenous injection of ABO-102 (AAV-SGSH). One year data in 3 patients was announced at the meeting, and all 3 patients appeared to be responding well to the therapy.

MPS IIIA is a lysosomal storage disorder in which children do not properly metabolize heparan sulfate that leads to progressive neural degeneration.

The disease is usually detected around 4 years of age when patients present with developmental delay and unexplained behavioural problems, and rapidly progresses with intellectual decline, motor retardation, eventual dementia, and severe behavioral disturbances such as tantrums, aggressiveness and hyperactivity.  At present, there is no cure or treatment for this condition.

One year following gene therapy, data from the 3 subjects were compared to data from a natural history study (n=15) and showed a 69.3% reduction in cerebral spinal fluid (CSF) heparan sulfate. The subjects also reported normalization of liver volumes and evidence of deep brain architecture stabilization in the thalamus and putamen.

Cognitively, the 3 patients also showed evidence of stabilization in the Leiter-R non-verbal IQ (n=2) and Vineland (adaptive behavior) (n=3) scales. No drug related serious adverse events were reported in patients.

In a news release, Timothy J. Miller, Ph.D., President and CEO of Abeona Therapeutics said: “Abeona continues to advance its world-leading gene therapy for MPS IIIA patients and we are excited about the updated results seen in Cohort 1 one year post-dosing. The observation of  dose- and time- dependent responses in the CSF at 12 months provides strong additional support for our clinical approach, and comparison of data from six treated and fifteen control subjects supports the intravenous delivery approach for patients with a lysosomal storage disease. We are encouraged by the continued reductions in liver volumes, signs of brain architecture preservation and preliminary evidence of stabilized neurocognitive decline,”

“We remain encouraged by signs of tolerability and biological effects that we have observed in Cohort 1 one year post-injection,” stated  Juan Ruiz, MD, Ph.D., MBA, Chief Medical Officer, Abeona Therapeutics Inc.  “Importantly, the stabilization of deep brain architecture at 1 year highlights the potential of intravenous route of delivery in accessing the basal ganglia to promote neural stabilization. We are pleased to see continued decreases in CSF HS in the Cohort one year post-administration, along with positive signs of neurocognitive and physical benefits at the low dose.”

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