Administration of an engineered version of the heparan-N-sulfatase (HNS) enzyme into the cerebrospinal fluid directly through the spinal canal failed to improve neurocognitive activity in infants with early-stage Sanfilippo syndrome type A, results from a Phase 2b trial show. However, the investigational enzyme replacement therapy (ERT) held some therapeutic activity…
Combined behavioral and pharmacological therapy seems to be the best course of action in treating behavioral and sleep problems in children with mucopolysaccharidosis (MPS) disorders, a review study has found. MPS comprises a group of lysosomal storage disorders caused by deficiencies and/or malfunction of specific enzymes responsible for breaking…
With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Creditand affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate, or…
Sanfilippo syndrome type A leads to toxic accumulation of several molecules in nerve cell axons — the structures responsible for conducting messages — of different brain regions, which correlates with disease progression, according to a mouse study. Researchers believe this toxic accumulation is likely to impair nerve cell communication and…
A group of experts has discussed and released a series of recommendations for future trials’ design in Sanfilippo syndrome. The study, “Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III” was published in the journal Orphanet Journal of Rare Diseases. Sanfilippo syndrome, or mucopolysaccharidosis type III, belongs…
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…
Culturing skin cells from patients with Mucopolysaccharidosis IIIB (MPS IIIB) at lower temperatures promotes the production of the active form of the alpha-N-acetylglucosaminidase (NAGLU) enzyme, researchers have found. These results may be relevant for the development of new therapeutic strategies for MPS IIIB, also known as Sanfilippo syndrome type B. The…
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…
Patients with Sanfilippo syndrome type A function below a two-year-old level in terms of communication, daily living skills and socialization, according to a small follow-up study of the later stages of the disorder. Motor skills were slightly more preserved. The study also revealed that parent burden shifts from behavioral control…
Adults with mucopolysaccharidosis (MPS), including MPS III, also known as Sanfilippo syndrome, have normal blood cholesterol levels and do not show a higher incidence of diabetes, despite their higher body mass index and increased cardiovascular risk, a study…
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