Medical Professional Publications

Research Now: Gene Therapy for Sanfilippo Syndrome Moves Toward Clinical Trials

Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III), is a genetic metabolism disorder caused by a deficiency in an enzyme needed to break down long chains of sugar molecules.  Affected children experience developmental delay and deteriorating mental status.

Dr. Haiyan Fu’s team in the Center for Gene Therapy has developed a systemic gene delivery approach to restore the activity of the enzyme (α-N-acetylglucosaminidase) in the central nervous system and somatic system, showing functional benefits in treating MPS IIIB I mouse model.  Supported by a translational grant from the National Institutes of Health (Haiyan Fu/Kevin Flanigan), the team is working toward obtaining an investigational new drug approval from the Food and Drug Administration for a Phase I/II clinical trial in patients with MPS IIIB. Dr. Fu’s team is also working on developing tissue-specific biomarkers for MPS IIIB, which will be critical for assessing disease severity and therapeutic responsiveness as therapies become available.

Select citation:
Fu H, Dirosario J, Killedar S, Zaraspe K, McCarty DM. Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery. Mol Ther. 2011 Jun;19(6):1025-33.

Contact: Haiyan Fu, PhD

myChildren’s mobile app

iPhone and Android.

Download Today! »

Nationwide Children's Hospital
700 Children's Drive Columbus, Ohio 43205 614.722.2000