Author Archives: Jose Marques Lopes PhD

Later Stages of Sanfilippo Syndrome Type A Associated with Severe Decline in Communication, Daily Living, Socialization and Motor Skills, Study Reveals

Patients with Sanfilippo syndrome type A function below a two-year-old level in terms of communication, daily living skills and socialization, according to a small follow-up study of the later stages of the disorder. Motor skills were slightly more preserved. The study also revealed that parent burden shifts from behavioral control…

FDA Grants Orphan Drug Status to AGT-184 for Sanfilippo Type A

AGT-184 has been granted orphan drug designation for the treatment of Sanfilippo syndrome type A by the U.S. Food and Drug Aministration. Sanfilippo syndrome type A is caused by mutations in the gene that provides instructions to make the enzyme N-sulfoglucosamine sulfohydrolase (SGSH). This leads to the accumulation of a complex sugar molecule…