GM1 Gangliosidosis

GM1 Gangliosidosis is a hereditary LSD that is caused by the accumulation of GM1 ganglioside in the CNS and leads to the destruction of nerve cells in the central and peripheral nervous systems.

GM1 Gangliosidosis is an autosomal recessive disorder caused by a mutation in the GLB1 gene.

GM1 Gangliosidosis is generally classified into three types, depending on the age at which signs and symptoms first appear. The most severe infantile form accounts for the highest proportion (≥60%), leading to death at the age of 2 to 4 years.

  • Rare Genetic Disease

  • LSD

    mutation in GLB1 gene

  • 1:150,000

    live birth prevalence

  • Neurodegenerative

    death before age 10

  • No Treatment


Type 1 (Infantile Form)

The infantile form is most common but most serious and usually develops within 6 months after birth. A difficulty in head control and enlarged liver and spleen are major symptoms. Changes in the skeletal system occur in about 6 months after birth, and neurological degeneration progresses rapidly after 1 year leading to death within 2 years after birth.

Type 2 (Juvenile Form)

The juvenile form develops at the age of 1 to 3 years, without externally distinguishable features. It begins with ataxia and rapidly progresses with neurological symptoms such as general muscle weakness and cognitive impairment. Patients usually die before the age of 10, but some survive into early adulthood.

Type 3 (Adult Form)

The adult form is the mildest and usually develops during school days. Without externally distinguishable features, muscular atrophy, stiffness, and unclear pronunciation appear, and intellectual disability is mild. Life expectancy varies up to several decades.


The incidence of GM1 Gangliosidosis is estimated to be 1 in 150,000 live births.


As there is no effective treatment for GM1 Gangliosidosis, patients are relying on symptomatic treatment to relieve symptoms.

The technology and know-how of the Hunterase can be applied to develop a treatment for GM1 Gangliosidosis as the disease is a kind of mucopolysaccharidosis and lysosomal storage disease like Hunter Syndrome (MPSII).

Novel Pharma is developing a treatment for GM1 Gangliosidosis that directly administers the deficient enzyme in the central nervous system by applying ICV administration established through clinical trials of Hunterase ICV.

Our Research in Rare Neurodegenerative Diseases

Novel Pharma is expanding its rare disease therapeutics pipeline based on the experience in the entire cycle of developing new drugs for rare diseases, secured through the success of Hunterase.