RARE Daily

Passage Bio and Invitae Collaborate to Support Genetic Testing for Early Diagnosis of GM1

November 9, 2020

Rare Daily Staff

Gene therapy drug developer Passage Bio and genetic testing firm Invitae said they have entered into a collaboration to facilitate genetic testing and support early identification of GM1 gangliosidosis.

GM1 gangliosidosis (GM1) is a rare and often life-threatening monogenic recessive lysosomal storage disease caused by mutations in the GLB1 gene, which encodes lysosomal acid beta-galactosidase (β-gal). Reduced β-gal activity results in the accumulation of toxic levels of GM1 ganglioside in neurons throughout the brain, causing rapidly progressing neurodegeneration. GM1 manifests as a continuum of disease and is most severe in the infantile form, which is characterized by onset in the first 6 months of life with reduced muscle tone, progressive CNS dysfunction, and rapid developmental regression. Life expectancy for infants with GM1 is two to four years, and infantile GM1 represents approximately two thirds of the incidence of 0.5 to 1 in 100,000 live births. Currently, there are no approved disease-modifying therapies available.

“Early identification and intervention are crucial steps in providing effective treatment to patients with GM1, particularly in the infantile form where onset occurs within the first six months of a patient’s life,” said Bruce Goldsmith, president and chief executive officer of Passage Bio. “By combining Invitae’s no-charge testing and counseling with information on clinical trials, clinicians will be able to intervene sooner and more efficiently, shortening the timeline to reliable diagnosis.”

Goldsmith said the company is readying to initiate a phase 1/2 trial for PBGM01 soon, and the partnership will be an important part of its support for patients and serve as a resource to patients with GM1 and their families.

Identification of GM1 will be done using Invitae’s Detect Lysosomal Storage Disorders (Detect LSDs). The Detect LSDs program offers genetic testing and genetic counseling at no charge to patients to encourage earlier diagnosis of lysosomal storage disorders like GM1 and, as a result, earlier access to clinical trials. In addition, Invitae provides clinical trial information and education to clinicians and patients who may benefit. Currently, the Detect LSDs program is available to patients within the United States and Canada.

“Increasing access to genetic testing supports earlier diagnosis, enables clinical trials to develop new treatments and helps clinicians provide precision therapies sooner for better overall outcomes,” said Robert Nussbaum, chief medical officer of Invitae.

The two companies are also partnering to provide educational clinical trial information to clinicians and patients.

Passage Bio has a broad pipeline of gene therapies for patients with rare, monogenic CNS diseases, established through a strategic collaboration and licensing agreement with the University of Pennsylvania’s Gene Therapy Program to conduct discovery and IND-enabling preclinical work.

Photo: Bruce Goldsmith, president and chief executive officer of Passage Bio.

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