GM1 gangliosidosis

GM1 gan·gli·o·si·do·sis

three forms exist: infantile, generalized; juvenile; and adult; gangliosidosis characterized by accumulation of a specific monosialoganglioside, GM1; due to deficiency of GM1-β-galactosidase.
References in periodicals archive ?
ENPNewswire-August 14, 2019--Passage Bio Announces Launch of Natural History Study to Evaluate Patients with GM1 Gangliosidosis
The commercial uptake will likely be robust given the lack of approved therapies for patients with GM1 gangliosidosis, Skorney said.
It is reported that Gain Therapeutics will now be targeting the development of its drugs portfolio for the treatment of Gaucher disease, GM1 Gangliosidosis and Parkinsons Disease.
The SAB is a key strategic resource to Lysogene providing scientific expertise and guidance to the team as the company continues to advance gene therapy candidates to treat CNS diseases, including LYS-SAF302 - currently in Phase 2-3 - for the treatment of Sanfilippo syndrome type A (MPS IIIA), LYS-GM101 - soon to enter Phase 1-2 - for the treatment of GM1 Gangliosidosis and preclinical proof of concept program in Fragile X syndrome.
In addition to MLD, this pattern is observed in single gene diseases that disrupt myelin tissue such as Pelizaeus-Merzbacher, globoid cell leukodystrophy, and GM1 gangliosidosis (2,3).
Axovant Sciences announced that it has licensed exclusive worldwide rights for the development and commercialization of two novel gene therapy programs to address GM1 gangliosidosis and GM2 gangliosidosis -- also known as Tay-Sachs and Sandhoff diseases -- from the University of Massachusetts Medical School.
Three children with GM1 Gangliosidosis showed decreased NAA peak and decreased NAA/ Cr ratio and elevated Cho/ Cr ratio.
GM1 gangliosidosis is an autosomal recessive storage disorder, which occurs in 1 per 100,000 to 200,000 newborns [1].
The main histologic differential diagnoses are other nephropathies with foamy podocytes, such as lysosomal inhibitor toxicity and other renal lipidoses (GM1 gangliosidosis, I-cell disease, Hurler syndrome, Niemann-Pick disease, Farber disease, and infantile nephrosialidosis).
Since 2009, Lysogene has established a solid platform and network, with lead products in Mucopolysaccharidosis type IIIA and GM1 Gangliosidosis, to become a global leader in orphan CNS diseases.
Diseases like GM1 gangliosidosis, Alpers disease, idiopathic generalized epilepsy and other forms of NCL are close differential diagnosis of this disease.
Widespread angiokeratomas also occur in patients with several additional enzyme deficiencies, which include a-fucosidase (fucosidosis), neuraminidase (sialodosis), aspartylglucosaminidase (aspartylglucosaminuria), AY-mannosidase (AY- mannosidosis), a-N-acetylgalactosaminidase (Kanski disease), and AY-galactosidase (adult- onset GM1 gangliosidosis).13 Also, ACD may occur without recognizable enzyme deficiency,3,4 or as benign form without systemic features,5 or normal physical, mental development and with skin lesions alone.6