News

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

Two new experimental stem cell lines derived from a patient with mucopolysaccharydosis IIIB (MPSIIIB), also known as Sanfilippo syndrome type B, were developed by Spanish researchers. These stem cells will complement existing mouse models of the disease and may allow the development of a more reliable human model of…

They had a son they adored, and now Cara and Glenn O’Neill longed for a girl. After a couple of miscarriages, they were overjoyed at the birth of Eliza. But 3 1/2 years later, their daughter was diagnosed with Sanfilippo syndrome. After establishing a foundation and raising more than…

Phoenix Nest has acquired the exclusive rights from the University of Manchester for the development of a gene therapy to treat Sanfilippo syndrome type C. The company is planning to apply for its first in-human clinical trial with the U.S. Food and Drug Administration. The gene therapy uses…

Caring for a child with mucopolysaccharoidosis (MPS), including Sanfilippo syndrome, can affect  all dimensions of a family’s life, yet parents gradually find ways to cope with the difficulties brought by the disease into their lives, an Irish study…

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…