Abeona Therapeutics will begin a Phase 1/2 clinical trial in Spain testing the company’s investigational gene therapy ABO-101 in patients with Sanfilippo syndrome type B. The company has received approval from the Spanish Agency for Medicines and Health Products (AEMPS) and will start the trial at University Hospital of Santiago…
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A comprehensive analysis of compounds present in the urine of patients with Sanfilippo syndrome provides new insight into the biological processes likely involved in the disease. The research could help to eventually identify disease biomarkers. The study, “Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and…
Perlara and the Cure Sanfilippo Foundation are collaborating on an initative called Sanfilippo PerlQuests to identify new disease targets and develop treatments for patients with Sanfilippo syndrome. “We’re excited for the opportunity to work with the Cure Sanfilippo Foundation and CSF families and researchers,” Ethan Perlstein, PhD, the founder…
Among all four subtypes of Sanfilippo syndrome (also called mucopolysaccharidosis type III, or MPS III), Sanfilippo type B is the most frequent subtype among the Taiwanese population, according to a retrospective study. These findings are essential for the early diagnosis and timely management of this disorder, as well…
While toxic accumulation of large sugar molecules, called heparan sulfate, are present in certain mucopolysaccharidosis (MPS) disorders with brain involvement, it is still unclear whether this molecule is the primary cause of brain damage or a secondary aspect of other processes, a recent review highlights. Scientific data suggests that additional…
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High-dose Genistein Shows No Clinical Benefit for Treating Sanfilippo Children, European Study Shows
Results from a Phase 3 clinical trial evaluating the use of high-dose genistein in children with Sanfilippo syndrome shows that its use has no meaningful clinical benefit. Sanfilippo syndrome — also known as Mucopolysaccharidosis III — encompasses a group of rare diseases that are caused by a deficiency in one…
Brain transplantation of genetically corrected stem cells partially restored enzymatic activity in mice with Sanfilippo syndrome, according to UCLA researchers. Their study, “Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice,” was published in the journal Molecular Therapy Methods…
Restoring the activity of the alpha-N-acetylglucosaminidase (NAGLU) enzyme using an artificial viral vector successfully corrected metabolic abnormalities in a mouse model of Mucopolysaccharidosis IIIB (MPS IIIB), also known as Sanfilippo syndrome, a new study using mice shows. The study, “Near-Complete Correction of Profound Metabolomic Impairments Corresponding to Functional…
Swedish Orphan Biovitrum AB’s (Sobi) has dosed the first patient in its Phase 1/2 clinical trial evaluating SOBI003 to treat Sanfilippo syndrome type A. The SOBI003-001 study (NCT03423186), which is still recruiting participants, intends to assess the therapy’s safety, tolerability and effectiveness when delivered to Sanfilippo A children, 1 to 6 years…
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…
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