The Parkinson’s Progression Markers Initiative (PPMI) is recruiting people with Gaucher disease for a new study in Parkinson’s disease because mutations in the GBA gene may cause both diseases. Both the National Gaucher Foundation and the Michael J. Fox Foundation for Parkinson’s Research (MJFF) support the…
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 chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease…
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 found. GD1, the most common form of the disease, is characterized by an accumulation of glucocerebroside in…
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 whom doctors mistakenly diagnosed with brittle bone disease. The report, “Actual reason for bone fractures in the…
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 currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…
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, “Evaluation of a novel, non-invasive iPSC based cell therapy for neuronopathic Gaucher disease,” was recently presented…
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 Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…
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 effective in both adults and children. It was the first study to show that bone loss prevention treatments known as…
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 more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…
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 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…
