Dean Suhr, President and Co-Founder of MLD Foundation, discusses current and emerging treatment options in metachromatic leukodystrophy (MLD).
MLD is a genetic lysosomal disorder characterized by the toxic buildup of lipids and other storage materials that largely impacts the development and stability of myelin sheaths surrounding neurons. Individuals with MLD have mutations in the ARSA or PSAP genes, which cause a deficiency of the enzyme arylsulfatase A and a decreased ability to break down sulfatides.
There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some infantile-onset cases. Other traditional treatments are based on symptom management.
As Mr. Suhr explains, the MLD Foundation is currently advocating for MLD to be included in the newborn screening panel in the United States. They are also working with pharmaceutical companies to develop novel therapies for MLD patients.
Two treatment options currently emerging for MLD: an early-stage gene therapy program with Sanofi and a late-stage product from Orchard Therapeutics (atidarsagene autotemcel). The Orchard Therapeutics therapy has a PDUFA date of March 18, 2024. Takeda is also currently working on enzyme replacement therapy, SHP-611.
For more information on MLD and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/