Dean Suhr, of the MLD Foundation, provides an overview of the philosophy of their foundation when it comes to supporting research for metachromatic leukodystrophy (MLD).
MLD is a genetic, lysosomal disorder caused by a deficiency in the enzyme arylsulfatase A (ARSA). It is characterized by the accumulation of sulfatides in cells. This accumulation leads to the continuous destruction of white matter throughout the nervous system. Affected individuals show progressive deterioration of cognitive ability, as well as motor and sensory functions. Eventually, individuals lose awareness of their surroundings and become unresponsive. Without treatment, the disease is fatal after a few years. Currently, there are no FDA-approved treatments for this rare condition.
As Mr. Suhr explains, the MLD Foundation supports numerous types of research to help advance knowledge of metachromatic leukodystrophy. However, it is not always clear at the beginning of a research project what will succeed. The MLD Foundation is also designed to focus on advocacy by working with families to better understand their needs and concerns.
Mr. Suhr joked that the foundation is eager to “bet on all the ponies,” but their approach continues to allow them to work closely with, and support, all parties during the drug development process. This enables the Foundation to ensure that the needs of the families and the MLD community are being met. That mindset also helps researchers to develop clinical trials that are more efficient in design.
To learn more about MLD and other lysosomal disorders, visit checkrare.com/diseases/lysosomal-storage-disorders/
