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…
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…
Lysogene has established a scientific advisory board (SAB) to further explore gene therapy as a treatment for central nervous system (CNS) disorders such as Sanfilippo syndrome. Comprised of global experts in gene therapy discovery and development, the four-member SAB will provide the company with scientific expertise and…
Heart problems are less common, and milder in severity, in people with Sanfilippo syndrome compared with other forms of mucopolysaccharidosis, a Taiwanese study has found. The cardiac problems identified by the researchers included valvular heart disease due to aortic valve abnormalities and valve narrowing, which worsened with…
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