rhPPCA

rhPPCA is an investigational enzyme replacement therapy in preclinical development for galactosialidosis, a rare lysosomal storage disease.

In galactosialidosis, an enzyme deficiency results in accumulation of substrates in the lysosomes, causing skeletal and organ dysfunction, and death. Enzyme replacement therapy in vitro and in the mouse model of this condition has shown that the replacement of PPCA results in reduction in storage of oligosaccharides, just as has been observed in other enzyme replacement therapies.

There are no approved therapies for galactosialidosis.

Ultragenyx has licensed rights to rhPPCA from St. Jude Children’s Research Hospital for monogenic diseases.

 

Data Presentations/Publications

rhPPCA

Stage

Preclinical

disease

Galactosialidosis

PREVALENCE

300-500 developed world patients

disease mechanism

Lysosomal enzyme deficiency

Key Symptoms

Skeletal deformity
Large liver/spleen
Movement disorder
Cognitive disability

Treatment mechanism

Enzyme replacement