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Tay–Sachs disease is an inherited lysosomal storage disease that results in the destruction of nerve cells in the brain and spinal cord. [1] The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. [1]
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. The disease occurs when harmful quantities of a fatty acid derivative called a ganglioside accumulate in the nerve cells of the brain . Gangliosides are lipids , components of cellular membranes, and the ganglioside GM2, implicated in Tay–Sachs disease, is especially common in the nervous tissue of the brain .
Signs and symptoms of GM2-gangliosidosis, AB variant are identical with those of infantile Tay–Sachs disease, except that enzyme assay testing shows normal levels of hexosaminidase A. [2] Infantile Sandhoff disease has similar symptoms and prognosis, except that there is deficiency of both hexosaminidase A and hexosaminidase B. Infants with this disorder typically appear normal until the age ...
Out of 604 monitored pregnancies where there was a prenatal diagnosis of Tay–Sachs disease, 583 pregnancies were terminated. Of the 21 pregnancies that were not terminated, 20 of the infants went on to develop classic infantile Tay–Sachs disease, and the 21st case progressed later to adult-onset Tay–Sachs disease.
Tay–Sachs disease: Hexosaminidase A: GM2 gangliosides in neurons: Neurodegeneration; Developmental disability; Early death; Autosomal recessive Approximately 1 in 320,000 newborns in the general population, [12] more in Ashkenazi Jews None Death by approx. 4 years for infantile Tay–Sachs [13] Metachromatic leukodystrophy (MLD) Arylsulfatase ...
Over 100 different mutations have been discovered just in infantile cases of Tay–Sachs disease alone. [11] The most common mutation, which occurs in over 80 percent of Tay–Sachs patients, results from a four base pair addition (TATC) in exon 11 of the Hex A gene. This insertion leads to an early stop codon, which causes the Hex A deficiency ...
In 2011, researchers discovered that pyrimethamine can increase β-hexosaminidase activity, thus potentially slowing down the progression of late-onset Tay–Sachs disease. [52] It is being evaluated in clinical trials as a treatment for amyotrophic lateral sclerosis. [53]