News

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…

A multidisciplinary approach tackling not only the behaviors and symptoms of children with Sanfilippo type B, but also the needs and quality of life of their caregivers, is vital to alleviate the physical and emotional burden experienced by these carers, a study says. The findings of the study, “…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Scientists have developed a new method to gather samples of cerebrospinal fluid (CSF) — the liquid that circulates in the brain and spinal cord — in mice that allows them to analyze levels of a specific biomarker for Sanfilippo syndrome. The study, “Collection of cerebrospinal fluid from murine…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

Patients with Sanfilippo syndrome type C may develop an accumulation of heparan sulfate in specialized cells involved in the filtering of molecules within the kidney, among other alterations, a mouse study finds. The study, “HGSNAT Enzyme Deficiency Results in Accumulation of Heparan Sulfate in Podocytes and…