Sanfilippo Syndrome News and Research

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Rare Disease Day 2021: Raising awareness of childhood dementia

In the lead-up to Rare Diseases Day – on Sunday February 28 - Associate Professor Kim Hemsley’s studies into childhood dementia are helping to unlock answers that can assist treatment of these largely unheralded conditions.

25 Feb 2021

A new combination therapy for treating rare, fatal Sanfilippo syndrome in children

A study aiming to develop a new therapeutic technique could bring a revolution in our approach to treating rare, fatal Sanfilippo syndrome, a disorder that affects children as young as 2 years old and leads to childhood dementia and premature death.

24 Feb 2021

Study provides new insights into an untreatable form of childhood-onset dementia

Is the eye a window to the brain in Sanfilippo syndrome, an untreatable form of childhood-onset dementia, Australian researchers ask in a new publication.

2 Dec 2020

New brain cell models created to evaluate therapies for Sanfilippo C syndrome

The Sanfilippo syndrome type C is a severe neurodegenerative disease which appearws during the first years of life and for which there is no treatment yet.

24 Apr 2020

Gene therapy is key to addressing Sanfilippo Syndrome, say Ohio scientists and clinicians

Gene therapy is the delivery of DNA into a patient's cells to replace faulty or missing genes—or adds new genes—in an attempt to cure cancer or make changes so the body is better able to fight off disease. Scientists and clinicians have identified a number of different ways to do this, in an effort to correct malfunctioning or mutated genes. Many gene therapy clinical trials are ongoing to assess the safety and potential benefits in patients with rare diseases.

8 May 2015

Research finding opens door to potential treatment for MPS IIIB

MPS IIIB is a devastating and currently untreatable disease that causes progressive damage to the brain, leading to profound intellectual disability, dementia and death -- often before reaching adulthood.

30 Sep 2014

Abeona Therapeutics obtains FDA Orphan Drug Designations for Sanfilippo Syndrome therapies

Abeona Therapeutics, a start-up company created around intellectual property licensed from Nationwide Children's Hospital to develop treatments for Sanfilippo Syndrome Types A and B, has been granted Orphan Drug Designations for its lead investigational therapies by the U.S. Food and Drug Administration Office of Orphan Products Development.

12 May 2014

Study highlights benefits of using multiple injections to treat Sanfilippo syndrome type III B

New insight has been gained into treating an inherited disorder that creates serious neurological and behavioral disabilities in children and usually leads to death in the teen years.

28 Mar 2014

Gene therapy developed by UAB cures pediatric Sanfilippo Syndrome A in animal models

A single session of a gene therapy developed by the Universitat Autònoma de Barcelona (UAB) cures Sanfilippo Syndrome A in animal models. This syndrome is a neurodegenerative disease that affects between 1 and 9 out of every 100,000 children, and causes the death of the child on reaching adolescence.

3 Jul 2013

Renaissance in drug development for rare diseases

Once famously described as "orphan diseases, too small to be noticed, too small to be funded" in the Hollywood drama Lorenzo's Oil, rare diseases are getting unprecedented attention today among drug manufacturers, who are ramping up research efforts and marketing new medicines that promise fuller lives for children and other patients with these heartbreaking conditions.

14 May 2013

LYSOGENE launches the first gene therapy clinical trials in Sanfilippo disease

LYSOGENE announces the authorization by AFSSAPS (the French Agency for the Safety of Health Products) and by the Ethical Review Board of SAF-301, its leading intra-cerebral gene therapy phase I/II clinical trial aiming at treating Sanfilippo Type A Syndrome.

16 Aug 2011

Investigators receive NIH grant to help move gene therapy for MPS IIIB toward clinical trials

Investigators at Nationwide Children's have received a grant from the National Institutes of Health to help move a therapy for MPS IIIB that has been shown effective in mice toward clinical trials in humans.

26 May 2011

Sanfilippo syndrome compromises blood-brain barrier, leads to brain damage

A study into the effects of Sanfilippo Syndrome type B (MPS III B) has found that the barrier responsible for protecting the brain from the entry of harmful blood-borne substances is structurally and functionally damaged by the devastating disease. University of South Florida researchers identified damage in specific brain structures involved in the pathology of MPS III B, one of four Sanfilippo syndromes, all of which are inherited diseases of metabolism.

9 Mar 2011

New understanding of Sly Syndrome

The scientist who discovered “Sly Syndrome” nearly four decades ago and a team of colleagues at Saint Louis University are a step closer to finding an approach to treat the rare genetic disease.

26 Jul 2007