In 1972 William S. Sly, first identified a rare, progressive and devastating condition, which came to be known as Sly Syndrome, now known as MPS VII.
This syndrome affects almost all tissue and organs, leads to cognitive as well as physical disease and results in early death, most typically from cardiac issues. He demonstrated that it is caused by a deficit of a single enzyme.
A world renowned physician, scientist, and author, Dr. Sly demonstrated in mice and dog models that enzyme replacement therapy could be effective. Forty-five years later, a bio-tech dedicated to the development of medicine for rare and ultrarare genetic conditions, Ultragenyx, produced the first enzyme replacement therapy for individuals with Sly Syndrome: MEPSEVII™ which received FDA approval on Nov 15th 2017.
Christine Haller MD, Vice President Global Clinical Development for Ultragenyx accepted a Worldsymposia New Treatment award this week for the development and approval of MEPSEVII™ (vestronidase alfa), as a significant advancement and the first treatment for MPS VII.
Dr. Haller called Dr. Sly onto the stage with her in recognition of his pioneering work, of more than 60 years in solving the mysteries of lysosomal storage diseases, and his collaborative work in bringing a treatment to those suffering with MPS VII. All rare disease families, who live and wait in hope for treatment for their loved ones, celebrate this achievement.