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January 13, 2020January 13, 2020

Type 2 Gaucher Patient Given PR001 Gene Therapy Under Compassionate Use Request

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A patient with type 2 Gaucher disease received treatment with Prevail Therapeutics‘ investigational gene therapy PR001 under a compassionate use program, the company said. The treatment was administered following ... Read more

January 9, 2020January 10, 2020

Novel Genetic Profile Described in Sisters with Gaucher Type 1 Disease

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A case report about two sisters in Brazil with Gaucher type 1 disease (GD1) and severe bone disease represents a new genetic profile, researchers say. Although the uncommon genetic ... Read more

January 6, 2020January 6, 2020

FDA Removes Clinical Hold on Phase 1/2 Trial of PR001 Gene Therapy for Type 2 Gaucher Disease

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The U.S. Food and Drug Administration (FDA) has lifted the clinical hold on a Phase 1/2 trial designed to test the gene therapy candidate PR001 in patients with type ... Read more

January 2, 2020January 2, 2020

Ambroxol Reverses Bone Damage, Decreases Abnormal Organ Volume in GD Type 1, Case Study Shows

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Treatment with ambroxol — a medication used to treat respiratory conditions associated with excessive mucus — reversed bone damage and decreased the excessive liver and spleen volume of a ... Read more

December 19, 2019December 19, 2019

Gaucher Treatment Can Partly Correct Altered Cell Levels in Bone Marrow, Study Says

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People with Gaucher disease (GD) show high levels of antibody-making plasma cells in bone marrow areas rich in abnormal Gaucher cells, a study reports. However, treatment with specific GD ... Read more

December 16, 2019December 16, 2019

Chronic Fatigue in Gaucher May Be Linked to Tendon Stiffness, Study Reports

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Weakness at the connections between muscles and joints may affect bones and could contribute to the chronic fatigue felt by people with Gaucher disease (GD), a study found. Tendon ... Read more

December 12, 2019December 12, 2019

Measuring Lyso-Gb1 Levels Could Provide Prenatal Diagnosis of Gaucher Disease, Study Suggests

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A test that measures levels of glucosylsphingosine (or lyso-Gb1) in the blood may help diagnose Gaucher disease (GD) and distinguish between disease types, a study has found. The test ... Read more

December 11, 2019December 11, 2019

Gene Therapy Takes Center Stage at 2019 NORD Summit

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With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough ... Read more

December 9, 2019December 9, 2019

Distinct Genetic Profiles in Single Family Illustrate Challenges to GD Diagnosis, Study Says

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Four distinct genetic profiles in Gaucher disease (GD) patients within a single family highlight the variability in disease severity and its difficult diagnosis, a study reports. The study, “Comprehensive clinical, ... Read more

December 5, 2019December 5, 2019

Gene Therapy Shows Promise for Treating Gaucher Disease, Mouse Study Reports

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A single injection of a liver-targeted gene therapy in mice leads to sustained production of a working version of glucocerebrosidase, the altered enzyme in people with Gaucher disease, research shows. ... Read more

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