News

February 22, 2021August 24, 2022

Blood Test Plus Algorithm Might Help to More Easily Spot Gaucher Type 1

News

An enlarged spleen or low platelets counts — or both — in a person with difficult-to-diagnose complaints may be a sign of type 1 Gaucher disease (GD1), a study suggests. ... Read more

February 18, 2021February 18, 2021

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

News, syndicated

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare ... Read more

February 15, 2021February 15, 2021

AVR-RD-02 Gene Therapy Still Showing Efficacy in 1st Treated Patient in Trial

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Updated, six-month data from a Phase 1/2 trial show a continued drop in the levels of two disease biomarkers in the first patient given a single infusion of AVR-RD-02, Avrobio’s ... Read more

February 10, 2021February 11, 2021

Pandemic Won’t Stop Rare Disease Day on Feb. 28

News, syndicated

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the ... Read more

February 8, 2021February 8, 2021

FDA Grants Orphan Drug Status to M6P Gene Therapy

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The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to two gene therapies that M6P Therapeutics is developing — one intended for Gaucher disease, the other aiming ... Read more

February 2, 2021February 2, 2021

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

News, syndicated

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs ... Read more

February 1, 2021February 2, 2021

Newly Found RNA Molecules May Be Biomarkers for Disease Progression

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A set of small molecules called microRNA (miRNA), found in a recent study, show potential both as biomarkers and as therapeutic targets of Gaucher disease. Determining differences in the levels ... Read more

January 26, 2021January 26, 2021

COVID-19 Vaccines Pose Little Risk to Rare Disease Patients, FDA, CDC Say

News, syndicated

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to ... Read more

January 25, 2021January 25, 2021

Cerezyme Effective Over 20 Years in Easing GD1 Symptoms, Data Show

News

When given over two decades, Cerezyme (imiglucerase) was effective at easing most symptoms of Gaucher disease type 1 (GD1), according to long-term data from an international patient registry. Importantly, these ... Read more

January 20, 2021January 20, 2021

NORD’s Caregiver Respite Program Continues Through Pandemic

News, syndicated

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for ... Read more