News

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

Substrate reduction therapy (SRT) shows potential in preclinical models and in clinical studies of patients with Sanfilippo syndrome. Treatment with genistein, currently being studied a Phase 3 trial, is the most promising candidate so far, according to a recent review. The review,…

Several approaches are currently being investigated to allow the delivery of novel therapeutic agents into the central nervous system and target neurological symptoms in patients with mucopolysaccharidosis disorders, including Sanfilippo syndrome. Although patients with mucopolysaccharidosis (MPS) disorders can suffer from neurological disorders that include neurocognitive decline and behavioral problems, treating these…

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…

Cognitive and imaging data are sensitive markers that can be used to assess changes in the disease course of Sanfilippo syndrome type B and evaluate new therapies, according to researchers. Their study, “Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B,” was published in the Journal of…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

Lysogene’s Phase 2/3 trial on LYS-SAF302 gene therapy, a clinical candidate for Sanfilippo syndrome type A, will begin in the second half of 2018 due to manufacturing delays. LYS-SAF302 is a viral vector that carries a healthy SGSH gene. This gene gives instructions to produce an enzyme called sulfamidase, which…

The U.S. Food and Drug Administration granted its regenerative medicine advanced therapy (RMAT) designation to Abeona Therapeutics‘ investigative gene therapy ABO-102, under development for the treatment of Sanfilippo syndrome type A. Also known as MPS IIIA (mucopolysaccharidosis type IIIA), Sanfilippo syndrome type A is a severe and progressive disorder caused…

Subcutaneous pentosan polysulfate (PPS) treatment reduces overall inflammation and brain degeneration, improving hyperactivity/anxiety and learning behavior in Sanfillipo syndrome type A, according to a mouse study. The study, “Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice,” was published in the Journal of Inherited Metabolic Disease.