According to a story from globenewswire.com, the gene therapy company Sio Gene Therapies, Inc., has recently released encouraging interim findings from its phase 1/2 clinical trial. This trial is evaluating the experimental gene therapy AXO-AAV-GM1 as a treatment for GM1 gangliosidosis, a rare disease. Sio Gene Therapies focuses on developing life-changing gene therapies for rare neurodegenerative disorders. This data follows five patients in the low dose cohort and two patients in the high dose cohort.
About GM1 Gangliosidosis
GM1 gangliosidosis is a group of inherited sphingolipidoses which are characterized by progressive damage to the nervous system along with other, severe effects. This is the result of abnormal lipid storage in cells, which is linked to a deficiency of beta-galactosidase. The disease is caused by mutations affecting the GLB1 gene. There are three different forms which are distinguished by when symptoms appear. Symptoms include neurodegeneration, seizures, muscle weakness, skeletal abnormalities, coarse facial features, enlarged liver and spleen, gait abnormalities, exaggerated startle response, joint stiffness, speech problems, dementia, and dystonia. There are no disease-modifying therapies for GM1 gangliosidosis; in the most severe, infantile-onset form, patients rarely survive for more than a few years. In all cases, life span is significantly affected. There is an urgent need for more effective treatments. To learn more about GM1 gangliosidosis, click here.
Interim Findings
So far, six of the seven patients that have been dosed have no overt indicators of disease progression since they were last assessed. The patients also demonstrated dose-dependent changes to two critical biomarkers of the disease: cerebrospinal fluid (CSF) GM1 ganglioside and serum β-galactosidase. CSF GM1 ganglioside is a toxic substance that accumulates in patients, and all but one patient saw their levels decrease, with the highest change in the high dose cohort. Serum β-galactosidase increased in all patients, with the high dose cohort achieving a normal range.
Treatment with AXO-AAV-GM1 has yet to produce any serious adverse effects, and no patients have had to withdraw from the trial. Total brain volume decreases during the natural history of the disease, but, excluding ventricles, brain volume was maintained with five percent for all five low dose cohort patients. Ventricular volume increases during the natural disease course. In four of the patients, ventricular volume stayed with 15 percent of baseline.
With encouraging findings, Sio will continue to proceed with the development of AXO-AAV-GM1 as planned.
