Every week thousands of scientific articles on various topics are published. Here are some recent articles and abstracts that are relevant to understanding, managing, and/or treating Sanfilippo Syndrome (mucopolysaccharidosis III or MPS III)."Caregivers’ assessment of...
Scientific News
Podcast Episode 11: WORLD highlights, early Anakinra results, new gene therapy trial + more
The Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this episode) diving into five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no FDA-approved treatment. In podcast...
Community’s vision for Rare Disease Center for Excellence at FDA
The Speeding Therapy Access Today (STAT ACT), H.R. 1730/S. 670, includes creation of a Rare Disease Center for Excellence within the U.S. Food and Drug Administration (FDA). The legislation was introduced March 2021 and is currently assigned to the House Committee on...
Identifying Disease Modifiers in Drosophila Models of Sanfilippo (MPS IIIA)
Grant Summary Institution: Clemson University, South Carolina, U.S. Primary Investigator: Trudy Mackay, PhD, Director, Clemson Center for Human Genetics and Self Family Endowed Chair of Human Genetics Duration: 24 months Start Date: January 2022 Type of Sanfilippo...
Pace of transformative therapies to overwhelm newborn screening process; experts propose innovations
There has been explosive growth in the number of transformative therapies developed for diseases that must be provided to patients early in life. This makes the need for expanded and updated newborn screening nationwide, which has not kept pace with these medical...
Discovery & validation of translational biomarkers for Sanfilippo childhood dementia
Grant Summary Institution: Monash University, Victoria, Australia Primary Investigator: Jan Kaslin, PhD, Associate Professor at Australian Regenerative Medicine Institute Duration: 36 months Start Date: January 2022 Type of Sanfilippo studied: A Types of Sanfilippo...
Heparan sulfate accumulation identified as “key initiating event” in Alzheimer’s could benefit Sanfilippo research
Thirty years ago, Alan Snow, PhD, and Thomas Wight, PhD, hypothesized that heparan sulfate GAG accumulation and/or decreased heparan sulfate GAG degradation is the key initiating event in Alzheimer's. This was a novel perspective of Alzheimer's. New studies and...
Podcast Episode 10: Kicking off 2022; upcoming key meeting with FDA; recent grants + more
The year's first (and episode 10) of the Foundation's "A Close Look at Sanfilippo" podcast spends 10 minutes (and a little more in this episode) diving into five hot topics regarding Sanfilippo Syndrome, a rapidly degenerative disease in children currently with no...
How sharing medical records can advance new treatments | AllStripes partnership
Sharing your child’s journey with Sanfilippo can advance new treatments Because Sanfilippo Syndrome is rare, researchers need more information directly from patients and their families to understand the condition. Your child’s progression, symptoms and health...