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January 27, 2020January 27, 2020

Targeted Gene Therapy Prevents Neurological Symptoms, Extends Survival in Gaucher Mouse Model, Study Shows

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Gene therapy targeting nerve cells restored the production of beta-glucocerebrosidase (GCase) — the defective enzyme in Gaucher disease — in a mouse model of the disorder, preventing neurodegeneration and prolonging ... Read more

January 23, 2020January 23, 2020

Careful Monitoring for Lung Involvement Urged for Gaucher Children, Even Absent Symptoms, Study Reports

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Lung manifestations are frequent among children with Gaucher disease, with recurrent chest wheezing, greater disease severity, and low platelet counts among the risk factors for developing such complications, an Egyptian ... Read more

January 20, 2020January 20, 2020

‘Floaters’ That Impair Vision May Help Track GD3 Severity, Small Study Suggests

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White spots in the field of vision, called vitreous opacities or floaters, may be associated with worse neurological symptoms in people with Gaucher disease type 3, according to a small study ... Read more

January 16, 2020January 16, 2020

Avrobio Cleared to Expand to the U.S. its Gene Therapy Trial for Gaucher Disease

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The U.S. Food and Drug Administration (FDA) has approved Avrobio‘s application to expand to the U.S. its ongoing Phase 1/2 trial testing its gene therapy candidate AVR-RD-02 in people with type ... Read more

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 approval ... 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 alterations ... 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 2 ... 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 5-year-old ... 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 therapies ... 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 stiffness ... Read more