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February 14, 2019February 14, 2019

Enzyme Replacement Therapy, BMN-250, Shows Promise as Treatment for Sanfilippo Type B, Study Finds

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Investigational enzyme replacement therapy BMN-250 successfully delivers the NAGLU enzyme — present in low levels in Sanfilippo type B patients — to key cells of the brain using different ... Read more

February 11, 2019

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

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Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run ... Read more

February 7, 2019February 7, 2019

Approved Therapy for Bladder Pain Being Repurposed to Potentially Treat MPS

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Pentosan polysulfate sodium, an approved medication commonly used to treat bladder pain, will now be repurposed to potentially treat mucopolysaccharidosis (MPS) under the terms of two new licensing agreements. The oral therapy ... Read more

February 4, 2019

ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration

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G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 means Dravet syndrome. All three designations became official on Oct. 1, 2018, joining ... Read more

January 31, 2019January 31, 2019

Physicians Recommend Early Surgery to Correct Spinal Issues in MPS Patients

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Spinal cord decompression — a type of spinal surgery — should be done on mucopolysaccharidosis (MPS) patients who have lesions in their spine to prevent or reverse neurological issues, ... Read more

January 30, 2019January 30, 2019

FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

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The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal ... Read more

January 17, 2019January 17, 2019

NAGLU Enzyme Replacement Therapy Fails to Improve Clinical Outcomes, Trial Results Show

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Restoring the activity of the alpha-N-acetylglucosaminidase (NAGLU) enzyme using enzyme replacement therapy (ERT) is well-tolerated by patients with Mucopolysaccharidosis IIIB (MPS IIIB), but fails to improve clinical outcomes, a ... Read more

December 20, 2018December 20, 2018

Abeona Will Include Early-stage MPS IIIA Patients in ABO-102 Gene Therapy Trial

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Abeona Therapeutics is planning to expand its ongoing ABO-102 gene therapy Phase 1/2 trial to include patients with Sanfilippo syndrome type A (MPS IIIA) at earlier stages of the ... Read more

December 20, 2018December 20, 2018

Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish

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Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to ... Read more

December 13, 2018December 13, 2018

New Stem Cell Lines Derived From MPSIIIB Patient May Help Improve Preclinical Research

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Two new experimental stem cell lines derived from a patient with mucopolysaccharydosis IIIB (MPSIIIB), also known as Sanfilippo syndrome type B, were developed by Spanish researchers. These stem cells ... Read more

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