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Axovant, Invitae Launch Free Genetic Testing Program for Lysosomal Storage Diseases

NEW YORK – Axovant Gene Therapies, a drugmaker focused on neurological diseases, has partnered with genetic testing firm Invitae to launch a free genetic testing and counseling program for children, called Detect Lysosomal Storage Diseases.

The program aims to reduce misdiagnosis and underdiagnosis of lysosomal storage disorders (LSDs) GM1 and GM2 gangliosidosis, otherwise known as Tay-Sachs and Sandhoff disease. Within the program, Invitae will provide free genetic testing on a 53-gene panel and counseling to patients suspected of having an LSD.

These multi-systemic, inherited metabolic diseases can cause early death, and most patients are misdiagnosed or not diagnosed at all. Genetic testing can facilitate diagnosis and enable appropriate care that improves patients' outcomes. "Genetic testing can expedite an accurate diagnosis, facilitate earlier interventions, allow genetic counseling of family members, and support clinical research for LSDs such as GM1 and GM2 gangliosidosis," Invitae Chief Medical Officer Robert Nussbaum said in a statement.

New York City-based Axovant, currently has a clinical program for its investigational gene therapy AXO-AAV-GM2 targeting GM1 gangliosidosis that is enrolling patients at the National Institutes of Health. The firm is awaiting investigational new drug authorization to begin human trials for the drug in Tay-Sachs and Sandhoff diseases.

"Early intervention is ideal with potentially disease-modifying genetic therapies, and our diagnostics partnership with Invitae should allow us to identify and enroll children at even earlier stages of disease progression," Parag Meswani, Axovant's senior VP of commercial strategy and operations, said in a statement.