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July 18, 2019July 18, 2019

Study Emphasizes Needs of Caregivers of Children with Sanfilippo Type B

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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 ... Read more

July 18, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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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 ... Read more

July 11, 2019July 11, 2019

Scientists Develop Method to Gather CSF Samples in Mice to Study Sanfilippo Biomarker

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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 ... Read more

July 4, 2019July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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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 ... Read more

June 27, 2019June 27, 2019

Heparan Sulfate Can Collect in Some Patients’ Kidney Cells, Mouse Study Finds

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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 ... Read more

June 26, 2019June 25, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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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 ... Read more

June 20, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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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, ... Read more

June 20, 2019June 20, 2019

1st European Patient Treated in Phase 2/3 Trial of Sanfilippo Type A Gene Therapy LYS-SAF302

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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 ... Read more

June 17, 2019June 17, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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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 ... Read more

June 13, 2019June 13, 2019

Scientists Use New Cellular Models to Test BMN 250 Investigational Enzyme Replacement Therapy

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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, ... Read more

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