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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

October 24, 2019October 24, 2019

Prevail and Lonza Join Forces to Develop PR001 Gene Therapy for Gaucher Type 2

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Prevail Therapeutics and Lonza Pharma & Biotech will collaborate in the development and production of Prevail’s PR001 gene therapy for children with type 2 Gaucher disease and for select patients with Parkinson’s ... Read more

October 21, 2019

‘Collodion’ Skin Disorder in Newborn Early Sign of Severe Perinatal Type 2 Gaucher, Case Study Suggests

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Infants who are born encased in a tight and shiny membrane made of skin cells that resembles plastic wrap, and commonly called “collodion babies,” may have severe perinatal (fetal) ... Read more

October 10, 2019

Gaucher Disease Might Be Associated with Rare Types of Blood Cancer, Case Report Suggests

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Gaucher disease can predispose patients to rare types of blood cancer, and doctors should be vigilant for the development of these malignancies, a case report suggests. The study, “A ... Read more

October 8, 2019October 17, 2019

Screening for Multiple Myeloma and Other Blood Cell Disorders May Be Useful with Gaucher, Study Says

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Gaucher disease is not common in people with a group of disorders called plasma cell dyscrasias (PCDs), which include multiple myeloma. But screening for these disorders among Gaucher patients could ... Read more

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