News

Sanfilippo syndrome type A leads to changes in the metabolism of gangliosides (sugar-fat molecules) and sphingolipids (fat molecules) in different brain regions, and at different stages of the disease, according to a mouse study. These findings pinpoint sphingolipids as potential therapeutic targets in people with this condition. The…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…

Screening for metabolic disorders, such as Sanfilippo syndrome, should be considered in patients initially diagnosed with Landau Kleffner syndrome, according to a recent case study. The report, “An Uncommon Presentation of Mucopolysaccharidosis Type IIIb,” was published in the Iranian Journal of Child Neurology. MPS IIIB is…

After a pivotal start in 2019 to its clinical program for Sanfilippo syndrome type A, Lysogene has announced its new goals for developing a treatment for the disease, also known as mucoplysaccharydosis IIIA (MPSIIIA). During the first half of this year, Lysogene has achieved important milestones in…

Accumulation of the protein alpha-synuclein in the brain — a hallmark of neurodegenerative diseases like Parkinson’s — does not factor in the early disease course of Sanfilippo syndrome type A, a mouse study suggests. The study, “Early disease course is unaltered in MPS IIIA mice lacking α-synuclein,” was…

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

Seelos Therapeutics‘ investigational new drug application for SLS-005 (trehalose) has been accepted by the U.S. Food and Drug Administration (FDA) for the treatment of Sanfilippo syndrome. The company can now start a Phase 2b/3 trial to test its investigational therapy in patients with Sanfilippo syndrome types A…

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

The youngest Sanfilippo syndrome type A children treated with the gene therapy candidate ABO-102 continue to have normal neurocognitive development up to 18 months after treatment in an ongoing Phase 1/2 trial, the therapy’s developer, Abeona Therapeutics, has announced. Early results also show favorable safety up to two years…