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Another metabolic therapy under investigation for Tay–Sachs disease uses miglustat. [64] This drug is a reversible inhibitor of the enzyme glucosylceramide synthase, which catalyzes the first step in synthesizing glucose-based glycosphingolipids like GM2 ganglioside. [65]
A multinational clinical trial investigating N-Acetyl-L-Leucine for the treatment of GM2 Gangliosidosis (Tay-Sachs and Sandhoff) began in 2019 [14] Recruitment is ongoing. IntraBio is also conducting parallel clinical trials with N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C [15] and Ataxia-Telangiectasia. [16]
Tay–Sachs disease occurs when hexosaminidase A loses its ability to function. People with Tay–Sachs disease are unable to remove the GalNAc residue from the G M2 ganglioside, and as a result, they end up storing 100 to 1000 times more G M2 gangliosides in the brain than the normal person. Over 100 different mutations have been discovered ...
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
In December 2018, Axovant added two gene therapy programs [which?] to treat GM1 gangliosidosis and Tay–Sachs and Sandhoff diseases. [26] [27] In June 2019, Axovant announced a strategic partnership with Yposkesi, a leading Contract Development and Manufacturing Organization, to expand Axovant's gene therapy manufacturing capacity. [28]
Children born with Tay–Sachs usually die between two and four years of age from aspiration and pneumonia. Tay–Sachs causes cerebral degeneration and blindness. Patients also experience flaccid extremities and seizures. At present there has been no cure or effective treatment of Tay–Sachs disease. [11]
Noting that medication-assisted treatment “is a high priority” for HHS, a department spokesperson told HuffPost in late December that the agency is “working quickly to update the rules.” Making sure that every opioid addict who wants medication-assisted treatment can receive it — the Obama administration’s goal — will require a ...
Acetylleucine is also being developed as a possible treatment for several neurological disorders by IntraBio Inc. [4] Clinical trials with acetylleucine for the treatment of three orphan, fatal, neurodegenerative disorders are underway: Niemann-Pick disease type C, [5] GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases), [6] and ataxia ...