Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. As such, individuals demonstrate a complex and severe clinical phenotype

Lay Summary:

Multiple Sulfatase Deficiency (MSD) is a genetic condition in children that is rapidly degenerative and fatal. Children with this condition are missing essential enzyme activity for normal cellular functions. Over time, cells in the body, including brain cells, clog up and become toxic. This results in devastating effects on the whole body and the central nervous system.

MSD leads to years of pain, severe disability and ultimately death; often before 10 years of age. This condition affects both genders and all races in every country around the world. Life expectancy may differ depending on the severity of the phenotype. A published natural disease history study based on 35 patients revealed an average life expectancy of 13 years of age. Its important to note that this cohort of patients included some much longer surviving patients.

Gene therapy has successfully stopped MSD in lab tests. With your vital help we will meet our goals – helping to advance a number of areas of MSD research. We hope and expect that this will lead to successful clinical advancements. Children, both current and future, will have a chance at life by getting a life changing and much-needed treatment. As a result, their life expectancy and quality of life will be greatly increased.

Funding remains critical and is urgently needed to stop MSD forever. Every donation will help towards achieving our goal to save these children and those of future generations. Time is of the essence for MSD families in an effort to treat their children before harsh symptoms develop and the condition progresses. Months, weeks and days matter in the race for children to be treated. You can play an important part of our mission to #TreatCureMSD by making a donation today!