Researchers from Children's Hospital of Philadelphia (CHOP) have tested a preclinical model for an experimental gene therapy designed to treat multiple sulfatase deficiency (MSD), a disorder that affects the brain, lungs, skin, and skeleton with no currently approved treatments. The findings demonstrated several improvements in outcomes, paving the way for future translation into clinical trials. The findings are published in the journal Molecular Therapy .
MSD is a lysosomal storage disorder caused by pathogenic variants of the SUMF1 gene. As a result, cells in the body are unable to activate the sulfatases, an important group of enzymes required to break down different storage materials. When these cells are unable to break down these substances, patients can experience a variety of devastating symptoms, with neurologic deterioration being the most severe symptom that patients with MSD face.
Researchers from CHOP have taken several key approaches toward understanding MSD and developing potential therapies to treat it. Currently, an international group of clinical, research and advocacy collaborators is working together to understand the natural history of MSD from mild to severe cases. The researchers also identified biomarkers associated with MSD, which could be used in a number of different future clinical trials of novel therapies.
"Since MSD is a multi-systemic disorder, we are exploring different approaches to gene therapy delivery, and hematopoietic stem cell transpla.