Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey.

ABSTRACT:

Background

Gaucher disease is a rare, autosomal recessive genetic disorder. It is caused by a lack of sufficient activity of the lysosomal enzyme known as glucocerebrosidase, which leads to an accumulation of glucocerebroside, a fatty substance, in the spleen, liver, bone marrow, and rarely, the lungs or central nervous system. While there are several treatments available for people with Type 1 Gaucher disease and the visceral aspects of Type 3 Gaucher disease, no cure is present for any type of Gaucher disease. Clinical trials are currently underway to investigate the safety and efficacy of gene therapy in Gaucher disease, which has the potential to become a new type of (curative) treatment in the future. Gene therapy is a relatively new therapeutic approach, and with the desire t

SUBMITTER: Collin-Histed T 

PROVIDER: S-EPMC9824927 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature