Shire has presented positive results from a first Phase III study evaluating velaglucerase alfa as an investigational enzyme replacement therapy for the treatment of Type 1 Gaucher disease.

Gaucher disease is an autosomal recessive disorder caused by mutations in the GBA gene, which result in a deficiency of the lysosomal enzyme beta-glucocerebrosidase, causing skeletal abnormalities and deformities as well as bone pain crises.

Data from a paediatric subgroup of this study and five-year follow-up results from a long-term Phase I/II extension study (TKT025 EXT) conducted in adults were also reported. Both studies (TKT032 and TKT025 EXT) met their primary endpoints.

Shire Human Genetic Therapies (HGT) research and development senior vice-president Whaijen Soo said that the programme is the largest and most comprehensive set of Phase III clinical trials conducted to date for Gaucher disease.

“We look forward to presenting the results from the remaining trials at future scientific meetings,” Soo said.

Velaglucerase alfa is made using Shire’s gene-activation technology in a human cell line. The enzyme produced has the exact human amino acid sequence and has a human glycosylation pattern.