News

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

Three possible new mutations in patients with Gaucher disease type 2 were identified by researchers in Turkey, who also found a higher-than-usual incidence of this rare subtype in the group studied, a case study reports. These findings of likely new mutations highlight the variability of this severe lysosomal storage disorder.

Looking at the activity of the Gaucher-associated enzyme — beta glucocerebrosidase (GBA) — using dried blood spot samples allows for an early diagnosis of likely Gaucher disease in children with mild or atypical symptoms, a study from China reports. This finding could be particular importance to children at high risk…

Hepatosplenomegaly — enlargement of the liver and spleen — can develop as a result of Gaucher disease in adults, according to a case report. The case report, “Gaucher disease in an adult: A rare cause of hepatosplenomegaly in adults,” was published in the journal Northern…

Testing dried blood spots is an easy, inexpensive, and effective way for the early diagnosis of Gaucher disease (GD) types 2 and 3 in high-risk patients, according to researchers from Japan. The research, “High-risk screening for Gaucher disease in patients with neurological symptoms,” appeared in the…

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.