Restoring the activity of the alpha-N-acetylglucosaminidase (NAGLU) enzyme using enzyme replacement therapy (ERT) is well-tolerated by patients with Mucopolysaccharidosis IIIB (MPS IIIB), but fails to improve clinical outcomes, a Phase 1/2 clinical trial shows. The findings of the study, “Final results of the phase 1/2, open-label clinical…
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Abeona Therapeutics is planning to expand its ongoing ABO-102 gene therapy Phase 1/2 trial to include patients with Sanfilippo syndrome type A (MPS IIIA) at earlier stages of the disease. “The encouraging data generated to date and our interactions with the U.S. Food and Drug Administration (FDA) and European…
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…
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#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
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…
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