There are no authorized therapies for the treatment of the<unk>  (Tay-Sachs and Sandhoff disease). The current standard of care for<unk>  disease is limited to supportive care and aimed at providing adequate nutrition and hydration. This supportive care may substantially improve the quality of life of people affected by GM2. The therapeutic team may include specialists in neurology, pulmonology, gastroenterology, psychiatrist, orthopaedics, nutrition, physical therapy and occupational therapy. N-Acetyl-Leucine N-Acetyl-Leucine is an orally administered, modified amino acid that is being developed as a novel treatment for multiple rare and common neurological disorders by IntraBio Inc (Oxford, United Kingdom). N-Acetyl-Leucine has been granted multiple orphan drug designations from the U.S. Food & Drug Administration (FDA) and the European Medicines Agency (EMA) and the European Medicines Agency (EMA) for the treatment of a various genetic diseases, including<unk>  (Tay-Sachs and Sandhoff). The US FDA has granted IntraBio a Rare Pediatric Disease Designation for N-Acetyl-Leucine for the treatment of<unk> . Compassionate use studies in both Tay-Sachs and Sandhoff patients have demonstrated the positive clinical effects of treatment with N-Acetyl-Leucine for<unk>  These studies further demonstrated that the treatment is well tolerated, with a good safety profile. A multinational clinical trial investigating N-Acetyl-L-Leucine for the treatment of<unk>  (Tay-Sachs and Sandhoff) began in 2019 Recruitment is ongoing. IntraBio is also conducting parallel clinical trials with N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C and Ataxia-Telangiectasia. Future opportunities to develop N-Acetyl-Leucine include Lewy body dementia, amyotrophic lateral sclerosis, restless leg syndrome, multiple sclerosis, and migraine.
GM2 gangliosidoses
GM1 gangliosidoses
Beta-mannosidosis
Sphingolipidoses
GM2-gangliosidosis, AB variant
Glycogen storage disease type 0
Congenital disorder of glycosylation type IIc
Galactosialidosis