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March 27, 2018March 27, 2018

Enzyme’s Levels Could Help Determine if a Gaucher Treatment Is Working, Study Reports

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Keeping tabs on Gaucher patients’ blood glucosylsphingosine (GlcSph) levels could be an alternate way to keep track of how well treatments are working, a Polish study suggests. The research, “Plasma ... Read more

March 22, 2018

Enzyme Replacement Therapy Improves Quality of Life in Children with GD1, Study Shows

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Enzyme replacement therapy with Cerezyme (imiglucerase) shows long-term benefits on the quality of life in young children with Gaucher disease type 1 (GD1), a study published in Molecular Genetics & Genomic Medicine ... Read more

March 20, 2018March 20, 2018

Late Gaucher Diagnosis Can Worsen Health and Quality of Life, Case Study Shows

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Late diagnosis and treatment of Gaucher’s disease, particularly when there are bone symptoms, can worsen a patient’s health and quality of life, a case study shows. It involved a Turkish woman ... Read more

March 19, 2018March 16, 2018

Genome Sequencing and Its Clinical Potential Focus of NYC Rare Disease Day Event

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Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases ... Read more

March 15, 2018March 15, 2018

Stem Cell-based Therapy Improves Motor Function, Lifespan in Mouse Model of Neuronopathic Gaucher

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An experimental, non-invasive stem cell-based therapy led to improved motor function, prolonged lifespan, and reduced neurodegeneration in a mouse model of neuronopathic Gaucher disease (GD), a study shows. The study, ... Read more

March 14, 2018March 14, 2018

‘A Disease May Be Rare, Hope Should Never Be,’ Says Boy with SMARD at Connecticut Rare Disease Day Event

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When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD, for short. Hunter Pageau, a 12-year-old boy from North ... Read more

March 13, 2018March 13, 2018

Enzyme Replacement Therapy and Bisphosphonates Can Limit Gaucher Bone Loss, Study Shows

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Enzyme replacement therapy, either alone or combined with a bone loss prevention treatment, helps patients with Gaucher disease type 3 avoid bone thinning, a long-term study shows. The treatment was ... Read more

March 12, 2018March 13, 2018

Rare Disease Groups Welcome FDA’s Embrace of ‘Real World’ Data in Clinical Trials

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In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies ... Read more

March 9, 2018March 8, 2018

US Lawmakers Urge Bipartisan Support for Rare Disease Research, Patients’ Needs

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At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 ... Read more

March 8, 2018March 8, 2018

Gaucher Outcome Survey Helps Track Global Treatment Strategies

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Medical professionals in several countries use a range of approaches to treat Gaucher disease (GD), and data from these strategies can help determine the impact of different treatment patterns on ... Read more