News

June 21, 2018

Brain Inflammation in Gaucher, Other Lysosomal Disorders Caused by Resident Immune Cells, Mouse Study Finds

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Brain inflammation in Gaucher disease and two other lysosomal disorders is not caused by infiltrating macrophages to the central nervous system, but instead is likely caused by resident immune cells ... Read more

June 19, 2018

Laparoscopy May Help Treat Spleen Cysts in Gaucher Disease, Case Study Reports

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Laparoscopy, a minimally invasive surgery also known as keyhole surgery, was successful at resecting a large painful cyst from the spleen of a type 1 Gaucher disease patient. This case ... Read more

June 14, 2018June 19, 2018

Simple Tools Can Avoid Biopsies, Speed Diagnosis of Gaucher Disease Type 1, Review Says

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Simple algorithms and rapid tools such as dried blood spot assays can help speed diagnosis, avoid unnecessary biopsies, and enable more effective management of Gaucher disease (GD) type 1, according ... Read more

June 12, 2018June 12, 2018

Doctors Use Noninvasive Method to Monitor Liver Treatment’s Effectiveness in Pediatric Patient

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Liver transient elastography, a noninvasive technique that measures liver stiffness, can be used to evaluate whether enzyme replacement therapy is improving liver symptoms in children with Gaucher disease, a new case report ... Read more

June 7, 2018June 8, 2018

Gaucher Disease May Not Promote Faster Parkinson’s Progression, Case Study Suggests

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In rare cases where Parkinson’s disease occurs in Gaucher disease patients, mutations in the GBA gene — which cause Gaucher and are a risk factor for Parkinson’s — do not seem to accelerate ... Read more

June 5, 2018June 5, 2018

Study Analyzes Incidence Rates of Lysosomal Disorders from 4 Years of Newborn Screening

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A new study reported the incidence rates of Gaucher disease and three other lysosomal storage disorders in the U.S. state of Missouri after four years of newborn screening. The results ... Read more

June 4, 2018June 4, 2018

US ‘Right to Try’ Law Meets with Mix of Praise and Criticism, Including Among Those with Rare Diseases

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As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, ... Read more

May 31, 2018

New Mutations Found in 3 of 4 Babies with Gaucher Type 2 in Turkish Study

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Three new mutations in three of four babies with Gaucher disease type 2 were reported in a Turkish study, further illustrating variability of this disease — even in Gaucher patients with ... Read more

May 30, 2018May 30, 2018

#ERDC2018 – When Treating Rare Disease Patients, Don’t Overlook Quality of Life, Panel Urges

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Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. ... Read more

May 29, 2018

Business Partnership to Study Arimoclomol in Phase 2 Trial for Neuronopathic GD Patients

News

Centogene and Orphazyme will collaborate in a Phase 2 clinical trial of arimoclomol, an experimental therapy for Gaucher disease patients with neuronal symptoms. Orphazyme’s arimoclomol boosts the production of a family of ... Read more