There are currently no effective treatments available for Multiple Sulfatase Deficiency (MSD). This is a terminal, autosomal recessive pediatric genetic disease. The proposed research directly tests a gene therapy treatment approach for MSD. Prior studies have been successful treating mice with MSD using an AAV9/SUMF1 vector, and very similar gene therapy approaches are currently being tested in humans for Spinal Muscular Atrophy, Giant Axonal Neuropathy, Batten disease type 6, and Mucopolysaccharidosis IIIA. We are proposing a good laboratory practice (GLP) toxicology and biodistribtution study to assess safety of this MSD gene therapy approach, which is a necessary step towards the submission of an investigational new drug (IND) application to the US Food and Drug Administration to initiate a Phase I/II clinical trial. Thus, the research conducted under this proposal will directly inform and enable a feasible human gene therapy trial for MSD. The proposed project is complementary to other studies being funded by the United MSD Foundation to complete all the necessary steps to initiate a MSD gene therapy clinical trial.
