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A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Looking for enzymes associated with Gaucher disease and two other disorders in the same dried blood sample is a good way to detect the disorders, a German and Austrian study reports. The other lyposomal diseases that the simultaneous screening method detected were Niemann-Pick types A and B and lysosomal acid lipase deficiency.

Sanofi Genzyme is launching a Phase 3 clinical trial testing Cerdelga (eliglustat) with or without Cerezyme (imiglucerase) in children and adolescents with Gaucher disease (GD) types 1 and 3. The multicenter, open-label ELIKIDS study (NCT03485677) will test the safety and effectiveness of Cerdelga, either alone or in combination…

A Lysosomal Storage Disease Research Program at Massachusetts General Hospital is conducting a survey as part of a study to investigate how those patients perceive their treatment. The survey asks for patients’ opinions on enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) and is anonymous. Titled, “Factors influencing…

A woman with type 1 Gaucher disease had several potentially light-threatening blood vessel bulges called aneurysms in her brain, according to a case study. It prompted researchers to wonder about a possible connection between the two conditions. They were unable to draw conclusions about a potential link, however.

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,…