News

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Siblings of terminally ill children need more support to deal with loss, said the founder of a support website who presented at the 15th Annual WorldSymposium for lysosomal disorders, which includes Sanfilippo syndrome. When a child dies from an illness, “the loss is rarely discussed, and siblings are often overlooked,”…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

The first patient has been dosed in a Phase 2/3 clinical trial evaluating Lysogene‘s gene therapy candidate LYS-SAF302 for Sanfilippo syndrome type A, also known as mucopolysaccharidosis type IIIA (MPS IIIA). LYS-SAF302 is a viral vector that carries a healthy SGSH gene. This gene gives instructions to produce an…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

Hernias, flat feet, joint rigidity, and keen misalignment are among the clinical symptoms at diagnosis in patients with mucopolysaccharoidosis (MPS) including Sanfilippo syndrome, according to Mexican study. The research, “Diagnosis of Mucopolysaccharidosis Based on History and Clinical Features: Evidence from the Bajio Region of Mexico,” was published in…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Investigational enzyme replacement therapy BMN-250 successfully delivers the NAGLU enzyme — present in low levels in Sanfilippo type B patients — to key cells of the brain using different cellular pathways, a study has found. The study, “BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…