Sarah Cortell Vandersypen, Executive Director of the United MSD Foundation, discusses the organization’s work with multiple sulfatase deficiency.

 

 

The United MSD Foundation is an international patient advocacy group focused on providing support for patients and their families, as well as funding research for MSD.

MSD is a lysosomal disorder caused by genetic changes in the SUMF1 gene. MSD primarily affects the brain, skin, and skeletal systems. While signs and symptoms vary by patient, common symptoms include the progressive loss of mental abilities and movement, caused by leukodystrophy and skeletal abnormalities, after a period of normal development.

Currently, there are no treatments targeting MSD so focus is on symptom management. However, Ms. Vandersypen mentions two upcoming clinical trials, an AV9 gene therapy and a small molecule therapy. These are the first clinical trial treatments open to patients with MSD.

For more information, visit https://curemsd.org/our-story/

For more information on MSD and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/