Six years ago, the United MSD Foundation began its annual Zebra Run with a goal of raising multiple sulfatase deficiency (MSD) awareness, as well as garnering funds to advance clinical trials, research, and the search for effective treatments. According to the Biloxi-Gulfport WLOX, the 6th annual Zebra Run recently took place on March 4, 2023.
Participants of all ages gathered at Fort Maurepas Park in Ocean Springs, Mississippi — ready to make a change! Participants who couldn’t make it to Mississippi were also welcome to join virtually. Complete with a 5k and a 1-mile “fun run,” the Zebra Run welcomed over 500 runners this year. Of course, you don’t have to run to complete the 5k; participants were also welcome to walk, bike, or get through the 5k in whatever way fit them best!
Altogether, the funds from the Zebra Run totaled over $15K. This money is incredibly valuable in stimulating clinical research and working towards better outcomes for those living with MSD.
A Brief Overview of Multiple Sulfatase Deficiency (MSD)
Multiple sulfatase deficiency (MSD) is a rare, multisystem lysosomal storage disorder that impacts the brain, skin, and skeleton. This condition results from SUMF1 gene mutations and is inherited in an autosomal recessive pattern, meaning individuals must inherit one defective gene from each parent. Normally, SUMF1 encodes for the production of formylglycine-generating enzyme (FGE). FGE modifies sulfatases (other enzymes) that break down substances – sugars, fats, hormones – containing sulfates. In MSD, the FGE enzyme – and sulfatase enzymes – are abnormal and don’t work properly. This prevents the molecules and substances from being broken down; when these accumulate in cells, it causes apoptosis (cell death), leading to MSD symptoms.
MSD is a variable condition with a wide range of symptoms and symptom severity. As a result, it has been classified into three subtypes:
- Neonatal. This is considered the most severe form, with symptoms manifesting shortly after birth. Symptoms and characteristics may include developmental delays, seizures, “coarse” facial features, deafness or hearing loss, scoliosis, ichthyosis, excessive hair growth, enlarged spleen and liver, heart and skeletal malformations, joint stiffness, and impaired speech.
- Late-infantile. This is the most common form of MSD. Children develop normally, cognitively speaking, during early childhood. However, as the condition progresses, children may experience progressive cognitive deterioration and movement issues. Other symptoms may include ichthyosis and skeletal abnormalities.
- Juvenile. This is the rarest form of MSD. Symptoms manifest in mid-to-late childhood and include psychomotor regression and ichthyosis.
Treatments for MSD focus on symptom management: orthopedic support, emollient ointments. A more targeted treatment is urgently needed. Unfortunately, multiple sulfatase deficiency comes with a significantly shortened life expectancy, with many patients surviving only a few years following symptom manifestation. That being said, this may depend on symptom severity and progression of neurological symptoms.
