Dean Suhr, President and Co-Founder of the MLD Foundation, gives an overview of the treatment landscape for metachromatic leukodystrophy (MLD).
MLD is a lysosomal storage disorder caused by arylsulfatase A (ARSA) deficiency. It is characterized by the accumulation of sulfatides in cells which largely affects myelin producing cells. This leads to the progressive destruction of white matter throughout the nervous system. Affected individuals show progressive deterioration of cognitive ability, motor, and sensory functions. Eventually, they lose awareness of their surroundings and become unresponsive. Without treatment, the disease is fatal after a few years. Currently, there is no FDA approved treatment.
As Mr. Suhr explains, the traditional treatment for MLD has been bone marrow, cord blood, or stem cell transplant. Though these treatments are continually undergoing developments, they remain invasive for patients and have been shown to slow, but not stop, disease progression.
Emerging therapies in the MLD landscape include enzyme replacement therapies as well as gene therapies. One gene therapy in particular, OTL-200, was approved in Europe by the European Medicines Agency (EMA) in 2020 for the treatment of MLD, making it the first and only approved treatment for this disease. The sponsor of OTL-200, Orchard Therapeutics, is currently working with the FDA to get the therapy approved in the United States. According to Mr. Suhr, there are currently 6 gene therapies being investigated for MLD.
To learn more about MLD and other lysosomal storage disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/
