News

March 6, 2018March 6, 2018

Pregnant Gaucher Disease Patients Can Continue Enzyme Replacement Therapy, Study Finds

News

Women receiving enzyme replacement therapy for Gaucher disease can continue taking it while pregnant with little risk of a miscarriage or a problem delivering their baby, a study suggests. Researchers ... Read more

March 1, 2018March 1, 2018

Retrophin, Horizon Donate $3M Each to Rare Disease Institute at Children’s National

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Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, ... Read more

March 1, 2018March 1, 2018

Newly identified Player in Gaucher Disease Could be Helpful in Diagnosis, Monitoring, Study Says

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A new protein recently identified by researchers could be used in diagnosing patients with Gaucher disease or assessing how patients are responding to therapies, a study suggests. Chitinase-3-like 1 (CHI3L1), ... Read more

February 27, 2018February 27, 2018

BioNews to Cover 3 Rare Disease Day Events, Including NIH Conference

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In recognition of Rare Disease Day 2018, BioNews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and ... Read more

February 21, 2018February 20, 2018

Patient Advocacy Groups Worldwide Plan Events to Mark Rare Disease Day, Feb. 28

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A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, ... Read more

February 20, 2018February 20, 2018

Twice-a-day Cerdelga Is Slightly Better Than Once-a-day Regimen for Gaucher, Trial Shows

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Two Cerdelga (eliglustat) pills a day are slightly better than one pill a day of the same strength at helping Gaucher type 1 patients maintain a stable disease, a Phase 3 ... Read more

February 15, 2018February 15, 2018

Possible Treatment for Neuropathic Gaucher Disease, Arimoclomol, Shows Potential in Early Study

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Arimoclomol, an investigative therapy being developed by Orphazyme, increases glucocerebrosidase activity in cells from Gaucher patients, including those with neuropathic forms of the disease, a new study says. Glucocerebrosidase is ... Read more

February 9, 2018March 14, 2018

Rare Disease Groups, Patients Differ on ‘Right to Try’ Bill Before US Congress

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David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine ... Read more

February 8, 2018February 8, 2018

MRE Analysis of Liver Stiffness Helps Monitor Disease Severity in GD Type 1 Patients

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Using non-invasive magnetic resonance elastography (MRE) to evaluate liver stiffness can help monitor disease severity and progression in Gaucher disease type 1 (GD1) patients. That finding was reported in the ... Read more

February 6, 2018February 6, 2018

Impaired Eye Movements Correlate with Clinical Status of GD Type 3, Study Finds

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Researchers seeking to better understand the links between changes in eye-movement patterns and the neurological status of Gaucher disease type 3 (GD3) hope their findings will lead to the identification ... Read more