MEDIPAL is committed to resolving unmet medical needs in ultra-rare diseases.

Fucosidosis

Fucosidosis is one of the lysosomal storage diseases caused by the deficiency or dysfunction of the enzyme α-L-fucosidase. Without this enzyme, certain substances (fucose-containing glycoproteins and glycolipids) accumulate in the body, leading to various symptoms. Currently, there are no approved treatments, so supportive care focuses on managing neurological symptoms. It is a particularly rare condition, with just over 100 cases reported worldwide.

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Mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B)

Mucopolysaccharidosis type IIIB is one of the lysosomal storage diseases caused by the deficiency or dysfunction of the enzyme α-N-acetylglucosaminidase. Without this enzyme, heparan sulfate accumulates in the body, leading to rapid progression of symptoms, especially affecting the central nervous system. Currently, there are no approved treatments, so supportive care focuses on managing neurological symptoms. Due to the nature of the disease, some patients remain undiagnosed or are initially diagnosed with a different condition.

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GM2 gangliosidoses

GM2 gangliosidoses are a group of lysosomal storage diseases caused by the deficiency or dysfunction of the enzyme β-hexosaminidase A. Without this enzyme's activity, certain substances (GM2 gangliosides and other glycolipids) accumulate in the body, severely affecting the brain and nervous system. Currently, there are no approved treatments, so supportive care focuses on managing neurological symptoms and improving the patient's comfort. The severity and progression can vary among individuals. In their infantile onset, the diseases often progress very rapidly.