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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

June 6, 2019June 6, 2019

Amicus Therapeutics and UPenn Expand Gene Therapy Partnership to Lysosomal Disorders

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Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania have enhanced their gene therapy collaboration to pursue treatments for lysosomal disorders such as Sanfilippo syndrome. ... Read more

May 30, 2019May 30, 2019

Gangliosides, or Sugar-fat Molecules, May Serve As Biomarkers for Sanfilippo, Study Suggests

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Increased levels of certain gangliosides, or sugar-fat molecules, in the cerebrospinal fluid of people with Sanfilippo syndrome may be useful biomarkers of disease burden, a study suggests. While this measurement ... Read more

May 28, 2019May 24, 2019

Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries

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RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site ... Read more

May 23, 2019May 23, 2019

New Growth Charts from Birth to Adulthood Can Help Predict Children’s Development, German Researchers Say

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Growth charts of Sanfilippo patients, created in a German study, can help doctors predict the developmental progress of children affected by this rare disease, and counsel parents on what ... Read more

May 17, 2019May 15, 2019

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been ... Read more

May 16, 2019May 16, 2019

First Sanfilippo Type B Patient Treated with High-Dose ABO-101 Gene Therapy in 2nd Part of Phase 1/2 Trial

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Abeona Therapeutics has started dosing the second group in its ongoing Phase 1/2 clinical trial testing ABO-101, treating the first patient with Sanfilippo syndrome type B with a high ... Read more

May 9, 2019May 9, 2019

Tissue Remodeling, Toxic Molecule Accumulation Responsible for Upper Airway Involvement in MPS, Study Finds

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Active tissue remodeling and treatment-resistant accumulation of toxic molecules are contributing factors in the development of persistent upper airway disease among patients with mucopolysaccharidosis (MPS), a study shows. The ... Read more

May 2, 2019May 2, 2019

New Mutation Linked to Sanfilippo Type A Found in Young Chinese Girl

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A new mutation in the SGSH gene associated with Sanfilippo syndrome type A, also known as mucopolysaccharidosis IIIA (MPS IIIA), was discovered in an 8-year-old girl in China, a case ... Read more

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