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December 5, 2019December 5, 2019

HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

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Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s ... Read more

November 25, 2019November 25, 2019

Study Finds Peripheral Nerve Damage Not to be Significant Feature of Gaucher Type 3

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Polyneuropathy — which refers to damage in peripheral nerves — is not a significant feature of Gaucher disease, particularly in people with the type 3 form, according to a ... Read more

November 21, 2019November 21, 2019

Myelodysplastic Syndrome Rare, But May Be Under-diagnosed in Gaucher Type 1 Patients, Study Suggests

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Myelodysplastic syndrome (MDS) is rare in people with Gaucher disease type 1 (GD1) but because it is difficult to detect it may lead to under-diagnosis in this patient population, a ... Read more

November 18, 2019November 18, 2019

Long-term ERT Reduces Bleeding But Not Platelet Function Defects in Gaucher Disease, Study Suggests

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Although able to reduce bleeding, long-term enzyme replacement therapy (ERT) did not correct alterations in platelets and other clotting molecules in people with Gaucher disease (GD), a new study shows. ... Read more

November 14, 2019

Rare Disease Film Festival Highlights Patient and Researcher Unity

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Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. ... Read more

November 11, 2019November 11, 2019

Gaucher Patients Want to Be Informed at Diagnosis of Parkinson’s Risk, Study Reports

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Most people with Gaucher disease (GD) would like to be informed by their health care provider at diagnosis of their risk of developing Parkinson’s disease, a survey among U.S. ... Read more

November 7, 2019November 7, 2019

Ambroxol Plus ERT Is Safe, Could Halt Neurological Progression in Gaucher, Small Study Suggests

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Oral treatment with ambroxol — an investigational chaperone therapy — plus enzyme replacement therapy (ERT) was found to be safe over a course of 4.5 years, and helped partially ... Read more

November 4, 2019November 4, 2019

New Test May Help Select Gaucher Patients Best Suited for Chaperone Therapy, Study Suggests

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A laboratory test using blood samples could help identify Gaucher disease (GD) patients likely to respond to experimental chaperone therapies, a study reports. The assay is based on macrophages, white ... Read more

October 31, 2019October 31, 2019

FDA Grants Orphan Designation to AVR‑RD‑02 Gene Therapy for Gaucher Disease

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The U.S. Food and Drug Administration (FDA) granted orphan drug designation to AVR-RD-02, a gene therapy candidate for the treatment of Gaucher disease. AVR‑RD‑02, being developed by Avrobio, recently advanced ... Read more

October 28, 2019October 28, 2019

Bone Manifestations Highly Common in Gaucher, Long-term Study Finds

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Bone problems are highly common among people with Gaucher disease, with symptoms including chronic bone pain, death of bone tissue due to insufficient blood supply to bones, and fractures, ... Read more

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