Author Archives: Iqra Mumal, MSc

Spinal cord decompression — a type of spinal surgery — should be done on mucopolysaccharidosis (MPS) patients who have lesions in their spine to prevent or reverse neurological issues, a study shows. The study, “Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis:…

Sarepta Therapeutics has signed a licensing agreement with Lysogene for the development of investigational gene therapy LYS-SAF302 to treat mucopolysaccharidosis type IIIA (MPS IIIA), also known as Sanfilippo syndrome type A, the companies recently announced. Under the terms of the deal, Sarepta gains exclusive commercial rights to…

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…

An investigative gene therapy to treat patients with Sanfilippo syndrome type C was developed at the University of Manchester in England, and Phoenix Nest, a biotech based in the U.S., has signed a licensing agreement to take the therapy to the clinical trial stage. Sanfilippo syndrome type…

A patient with Sanfilippo syndrome and poor nutritional status developed high levels of homocysteine —  an amino acid likely due to a functional deficiency of vitamin B12, according to a case report. The study titled, “Moderate hyperhomocysteinemia along with increased levels of B12 in a 21-y boy with the Sanfilippo…

Injecting a modified version of the NAGLU enzyme directly into the brains of mice with Sanfilippo syndrome type B normalized the enzyme’s activity and cleared the accumulation of heparan sulphate from the central nervous system of the affected mice. The study, “Clearance of Heparan Sulfate and Attenuation…

Abeona Therapeutics announced that ABO-102 (AAV-SGSH), an investigational therapy for Sanfilippo syndrome type A (MPS IIIA), demonstrated significant and durable clinical effects at various time points in a clinical trial. Results were reported last week at the World Symposium for Lysosomal Diseases in San Diego, California, and are…