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

Fucosidosis

Fucosidosis is one of the lysosomal storage diseases in which the deficiency or dysfunction of the enzyme α-L-fucosidase causes the accumulation of fucose-containing glycoproteins and glycolipids in the body, resulting in various symptoms throughout the body. Currently, there is no curative treatment, and supportive care is provided for neurological symptoms. It is a particularly rare form of lysosomal storage disease, with only a hundred plus cases reported worldwide.

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Mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B)

Mucopolysaccharidosis type IIIB is one of the lysosomal storage diseases in which the deficiency or dysfunction of the enzyme α-N-acetylglucosaminidase causes the accumulation of heparan sulfate in the body, resulting in rapid progression of symptoms, especially central nervous system damage. Currently, there is no curative treatment, and supportive care is provided for neurological symptoms. It has also noted that due to the nature of the disease, there are patients who have not yet been diagnosed or who have been diagnosed with a different disease.

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