News

August 10, 2020August 10, 2020

Measuring Lyso-Gb1 in Dried Blood Spots Can Help Monitor ERT Effectiveness

News

Measuring the levels of glucosylsphingosine (Lyso-Gb1) — a diagnostic biomarker of Gaucher disease — in dried blood spots is a reliable method to monitor the effectiveness of enzyme replacement therapy ... Read more

August 3, 2020August 3, 2020

Children With Gaucher May Need Long-term ERT to Reach Desired Immune Responses, Study Says

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Children with Gaucher disease who are on enzyme-replacement therapy (ERT) continue to have abnormal levels of immune cells, despite partial improvements, a study suggests. Therefore, these patients may need long-term ... Read more

July 20, 2020July 20, 2020

25% of Patients in Spain on ERT Report Missed Doses Due to COVID-19

News

In Spain, a quarter of Gaucher disease patients being given enzyme replacement therapy (ERT) infusions at hospitals experienced dose interruptions due to the COVID-19 pandemic, a study reports. Greater attention needs to be ... Read more

July 13, 2020July 13, 2020

1st Patient Dosed in Trial of AVR-RD-02, Gene Therapy for Gaucher Type 1

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A first patient has been treated in a Phase 1/2 trial of AVR-RD-02, Avrobio‘s investigational gene therapy for Gaucher disease type 1, the company announced. “The first patient dosed is an important milestone ... Read more

July 10, 2020July 10, 2020

National Survey Seeks to Assess Full Social, Economic Burdens of Rare Diseases in US

News, syndicated

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in ... Read more

July 6, 2020July 6, 2020

Lysogene, Weizmann Institute Team Up on Gene Therapy for Neuronopathic Gaucher

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Lysogene has entered into a collaborative research agreement with Yeda Research and Development, a commercial branch of the Weizmann Institute of Science, to develop a gene therapy for neuronopathic Gaucher ... Read more

June 29, 2020June 29, 2020

Arimoclomol Shows Potential to Aid Gaucher Patients in Phase 2 Trial

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Arimoclomol, Orphazyme’s investigational therapy for Gaucher disease and other disorders, leads to clinically meaningful, dose-dependent reductions in liver and spleen size in patients with type 1 or 3 Gaucher, according to ... Read more

June 23, 2020July 28, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

News, syndicated

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support ... Read more

June 22, 2020June 22, 2020

Long-term Cerezyme Followed by Cerdelga Delayed Bone Loss in Gaucher Type 1 Case Study

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Using a non-invasive high-resolution imaging method, physicians found that long-term treatment with Cerezyme (imiglucerase) followed by a switch to Cerdelga (eliglustat) seemed to prevent or delay bone loss in a ... Read more

June 15, 2020June 15, 2020

Two Pro-inflammatory Proteins May Be Biomarkers of Gaucher Type 1

News

People with type 1 Gaucher disease have higher blood levels of two pro-inflammatory proteins than do healthy individuals, a small study suggested. The proteins may be biomarkers to help monitor the ... Read more