Updates

December 12, 2019December 12, 2019
Measuring Lyso-Gb1 Levels Could Provide Prenatal Diagnosis of Gaucher Disease, Study Suggests

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 ... Read more
December 11, 2019December 11, 2019
Gene Therapy Takes Center Stage at 2019 NORD Summit

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 ... Read more
December 9, 2019December 9, 2019
Distinct Genetic Profiles in Single Family Illustrate Challenges to GD Diagnosis, Study Says

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 ... Read more
December 5, 2019December 5, 2019
Gene Therapy Shows Promise for Treating Gaucher Disease, Mouse Study Reports

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 ... Read more
December 5, 2019December 5, 2019
HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access ... Read more

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News

Study Finds Peripheral Nerve Damage Not to be Significant Feature of Gaucher Type 3
November 25, 2019November 25, 2019
Polyneuropathy — which refers to damage in peripheral nerves — is not a significant ...
News

Myelodysplastic Syndrome Rare, But May Be Under-diagnosed in Gaucher Type 1 Patients, Study Suggests
November 21, 2019November 21, 2019
Myelodysplastic syndrome (MDS) is rare in people with Gaucher disease type 1 (GD1) but because ...
News

Long-term ERT Reduces Bleeding But Not Platelet Function Defects in Gaucher Disease, Study Suggests
November 18, 2019November 18, 2019
Although able to reduce bleeding, long-term enzyme replacement therapy (ERT) did not correct alterations in ...
News

Rare Disease Film Festival Highlights Patient and Researcher Unity
November 14, 2019
Rare disease-themed videos glowed on a large screen before an audience of people in ...
News

Gaucher Patients Want to Be Informed at Diagnosis of Parkinson’s Risk, Study Reports
November 11, 2019November 11, 2019
Most people with Gaucher disease (GD) would like to be informed by their health ...
News

Ambroxol Plus ERT Is Safe, Could Halt Neurological Progression in Gaucher, Small Study Suggests
November 7, 2019November 7, 2019
Oral treatment with ambroxol — an investigational chaperone therapy — plus enzyme replacement therapy ...

New Test May Help Select Gaucher Patients Best Suited for Chaperone Therapy, Study Suggests
November 4, 2019November 4, 2019
A laboratory test using blood samples could help identify Gaucher disease (GD) patients likely to ...
FDA Grants Orphan Designation to AVR‑RD‑02 Gene Therapy for Gaucher Disease
October 31, 2019October 31, 2019
The U.S. Food and Drug Administration (FDA) granted orphan drug designation to AVR-RD-02, a gene ...
Bone Manifestations Highly Common in Gaucher, Long-term Study Finds
October 28, 2019October 28, 2019
Prevail and Lonza Join Forces to Develop PR001 Gene Therapy for Gaucher Type 2
October 24, 2019October 24, 2019
‘Collodion’ Skin Disorder in Newborn Early Sign of Severe Perinatal Type 2 Gaucher, Case Study Suggests
October 21, 2019
Gaucher Disease Might Be Associated with Rare Types of Blood Cancer, Case Report Suggests
October 10, 2019

Screening for Multiple Myeloma and Other Blood Cell Disorders May Be Useful with Gaucher, Study Says
October 8, 2019October 17, 2019
Gaucher disease is not common in people with a group of disorders called plasma cell ...
New Fly Model of Gaucher Disease May Improve Knowledge of Disease Mechanisms, Researchers Say
October 7, 2019
Pilot Study Demonstrates Feasibility of Gaucher Monitoring with Cell Phones
October 3, 2019
IGA Uses Tattoos, ‘Rare Stars’ to Mark Oct. 1, International Gaucher Day
September 30, 2019

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC
September 26, 2019
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, ...
Toddler Becomes Youngest Patient to Develop Gaucheroma While on Enzyme Replacement Therapy, Case Study Reports
September 23, 2019
Ambroxol Plus ERT Can Ease Neurological Symptoms in Some Gaucher Type 3 Patients, Case Study Suggests
September 19, 2019September 19, 2019

News

FDA Asked to Allow Higher Dose of PROO1 Gene Therapy in Gaucher Type 2 Clinical Trial
September 16, 2019October 24, 2019
Prevail Therapeutics is asking the U.S. Food and Drug Administration (FDA) to approved a request ...
News

‘Simple’ Algorithm Seen to Help Diagnose Rare Diseases Like Gaucher Type 3
September 12, 2019
A new algorithm that examines neurological and oculomotor signs may make it much easier to ...
News

Stem Cell Injections May Treat Gaucher Disease with Brain Involvement, Mouse Study Finds
September 9, 2019
Stem cell therapy given via intravenous injection eased symptoms and prolonged survival in a ...
News

Study Finds Biomarkers That Might Inform Severity of Gaucher Manifestations
September 5, 2019
Levels of the biomarkers cathepsin D, cathepsin S, YKL-40, and progranulin are not accurate ...
News

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
September 2, 2019August 30, 2019
Rare diseases deeply affect not only the children who experience them, but also their ...
News

At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing
August 29, 2019August 28, 2019
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is ...
News

Case Report Suggests Misclassification of Pulmonary Hypertension in Gaucher
August 26, 2019August 26, 2019
The case of a Gaucher disease patient who received a lung transplant to treat ...
News

Cerezyme ‘Dramatically’ Eased Severe Liver and Lung Problems in Gaucher Patient, Case Study Reports
August 22, 2019
Treatment with Cerezyme (imiglucerase), Sanofi Genzyme‘s enzyme replacement therapy, can effectively reverse severe pulmonary ...
News

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
August 20, 2019August 19, 2019
Imagine living your whole life with a painful disease so rare that only 25 ...

December 14, 2017

ERT Infusion Sessions Could Be Cut from 1 Hour to 10 Minutes, Gaucher Research Shows

News

Reducing infusion time of Vpriv (velaglucerase alfa) enzyme replacement therapy (ERT) in patients with type 1 Gaucher disease from one hour to 10 minutes may be possible using a time-reducing protocol. Developed by a team led by Ari Zimran, ... Read more

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