Generation of a mouse model of Multiple Sulfatase Deficiency

Multiple Sulfatase Deficiency Action Foundation announces research partnership with The Telethon Fondation, Italy, August 2018

Research project: Generation of a mouse model of Multiple Sulfatase Deficiency for investigation of new therapies.
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Principle Investigator: Nicola Brunetti-Pierri, MD. Associate Investigator, Telethon Institute of Genetics and Medicine

Lay Abstract of the research project:
Multiple sulfatase deficiency (MSD) is a rare genetic disease caused by deficiencies of multiple enzymes called sulfatases. The activity of sulfatases depends on modification made by another enzyme that is encoded by the SUMF1 gene that is mutated in MSD patients. As a consequence of SUMF1 gene mutations, the activities of all human sulfatases are substantially reduced in MSD patients. MSD is clinically very severe with rapidly progressive abnormalities that affect several organs including the brain and leading to early mortality. There are currently no available therapies for MSD. Several experimental therapies including gene therapy have been proposed. However, investigations of these strategies are limited by the severe phenotype and the short lifespan of the only available MSD mouse model. To overcome these limitations, a novel mouse model of MSD carrying a Sumf1 mutation that is expected to result in a less severe phenotype has been generated in collaboration with Cathleen Lutz,  Ph.D. MBA and Maximiliano F. Presa, Ph.D. at The Jackson Laboratory (USA). We propose to fully characterize the clinical, biochemical and pathological features of this novel MSD mouse model. We believe this model will be extremely helpful to investigate novel therapeutic approaches including gene therapy.