The research laboratory has focused on understanding the disease process and developing treatments for MLD. Cultured fibroblast cell lines from patients with MLD and the mouse model of MLD have been extensively studied. Successes with both the cell lines and the mouse model have informed experiments designed to accumulate further preclinical safety data using larger animals.
In human MLD, mutations in the ARSA gene cause dysfunction of the enzyme arylsulfatase A (ARSA) and the lipid sulfatide accumulates in the central nervous system causing progressive neurodegeneration. The mouse model of MLD also accumulates sulfatide in the brain especially the cerebellum.
Bethanys Hope Foundation
phone: 1-877-858-HOPE (4673)