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…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
A Phase 2/3 trial of the Sanfilippo syndrome type A gene therapy candidate LYS-SAF302 has dosed its first patient in Europe. Called AAVance, the open-label trial (NCT03612869) is assessing the safety and efficacy of a one-time delivery of LYS-SAF302. The team intends to recruit a total of 20…
People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…
Using different cellular models of Sanfilippo syndrome type B, researchers have found that exposure time and dose significantly affect the cellular uptake of BMN 250, an investigational enzyme replacement therapy, and the clearance of sugar molecules called heparan sulfate. The study, “Differential uptake of NAGLU-IGF2 and…
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