News

Abeona Therapeutics’ experimental gene therapy ABO-101 for people diagnosed with Sanfilippo syndrome type B has been granted Fast Track designation by the U.S. Food and Drug Administration (FDA). The company is currently enrolling eligible patients at sites across the U.S. and Spain for its Phase 1/2 trial. Fast Track designation is intended to…

Alpha-synuclein protein is not responsible for the onset of cognitive and motor symptoms associated with Sanfilippo syndrome type A, a mouse study suggests. The study, “Early disease course is unaltered in MPS IIIA mice lacking α‐synuclein,” was published in Neuropathology and Applied Neurobiology. Sanfilippo syndrome type…

Exome sequencing data — the DNA sequence of all genes encoding for proteins — that include the contribution of variants of unknown significance (VUS), may allow researchers to estimate accurately the incidence of rare genetic disorders, including Sanfilippo syndrome type B, a study suggests. The study, “…

Nonprofit research foundation Team Sanfilippo (TSF) is preparing to launch a Phase 2 clinical trial to explore the safety and efficacy of a common sugar called trehalose as a treatment for patients with Sanfilippo syndrome. This follows a collaborative agreement that was initially made with Bioblast Pharma, the therapy’s…

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…