Dean Suhr, of the MLD Foundation, provides an overview of the latest clinical milestones in diagnosing and treating metachromatic leukodystrophy (MLD). 

 

MLD is a lysosomal disorder due to a deficiency in the enzyme arylsulfatase A (ARSA). 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 for this rare condition.

As Mr. Suhr explains, years of advocacy work are beginning to pay off for the MLD community. In Europe, a gene therapy (OTL-200) was approved to treat MLD in 2020 and there are numerous other gene therapies in development. In addition, the MLD community is advocating for MLD to be part of newborn screening as these treatments become available. 

To learn more about MLD and other genetic disorders, visit checkrare.com/diseases/congenital-and-genetic-conditions/