Rare Daily Staff
Passage Bio, which is developing a gene therapy for progressive neurological condition GM1 gangliosidosis, said it launched a natural history study to evaluate patients with type 1 and type 2 forms of the condition.
The study is being conducted by the Orphan Disease Center in the Perelman School of Medicine at the University of Pennsylvania.
GM1 gangliosidosis is a lysosomal storage disorder caused by a deficiency of the enzyme β-galactosidase (GLB1), which is required for the degradation of GM1 ganglioside and keratan sulfate. The infantile type of GM1 is the most common and severe form of the disease, typically with gait abnormalities by four months of age and developmental regression by six months. Many infantile GM1 patients experience rapid regression with mortality by approximately two years of age. There are no disease-modifying therapies for GM1.
“There is a limited understanding of GM1 gangliosidosis, particularly in pediatric patients, and thus it’s important that we sponsor this natural history study in order to gather information on the symptoms and progression of this incredibly devastating rare disease,” said Stephen Squinto, co-founder and interim CEO at Passage Bio. “Data from this foundational study will be used to help rationally design our clinical development programs with the goal of fully addressing the unique and clinically meaningful challenges of GM1.”
The ODC will initiate this study at several sites in the United States, Europe, and Brazil to collect information on the disease’s natural course and outcomes, without treatment or intervention, and to identify demographic, genetic, environmental, and other factors that may be associated with this disease.
The study will look at baseline characteristics and key clinical assessments out to three years, such as survival rates, feeding tube placement, scores on several validated clinical assessments and all planned first-in-human exploratory endpoints, as well as parent-reported outcomes, including seizure onset and frequency and the Pediatric Quality of Life assessment.
The findings from this study are expected to be reported at a scientific meeting and will inform a clinical development program expected to be initiated in the first half of 2020, using a new experimental gene therapy being developed by Passage Bio.
Photo: Stephen Squinto, co-founder and interim CEO at Passage Bio