Updates

September 16, 2019
FDA Asked to Allow Higher Dose of PROO1 Gene Therapy in Gaucher Type 2 Clinical Trial

Prevail Therapeutics is asking the U.S. Food and Drug Administration (FDA) to approved a request to open clinical trials, at higher doses than initially planned, ... Read more
September 12, 2019
‘Simple’ Algorithm Seen to Help Diagnose Rare Diseases Like Gaucher Type 3

A new algorithm that examines neurological and oculomotor signs may make it much easier to diagnose certain “often overlooked” rare neurological conditions, including Gaucher disease ... Read more
September 9, 2019
Stem Cell Injections May Treat Gaucher Disease with Brain Involvement, Mouse Study Finds

Stem cell therapy given via intravenous injection eased symptoms and prolonged survival in a mouse model of Gaucher disease with neuronal symptoms, a proof-of-concept ... Read more
September 5, 2019
Study Finds Biomarkers That Might Inform Severity of Gaucher Manifestations

Levels of the biomarkers cathepsin D, cathepsin S, YKL-40, and progranulin are not accurate enough to measure disease activity in Gaucher disease patients, but ... Read more
September 2, 2019August 30, 2019
‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. ... Read more

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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 ...
News

New GBA Mutation May Be Linked to Perinatal Lethal Gaucher Disease, Case Report Suggests
August 19, 2019
A new mutation, H413P, that may be associated with severe symptoms was discovered in ...
News

Gain Therapeutics and Partners Win €1.4M Grant to Develop Treatments for Gaucher and Other Diseases
August 12, 2019September 10, 2019
A €1.4 million grant from the Eurostars-2 program, with funding from others, will support Gain ...

Ways Needed to Ease High Cost of Gaucher Care to Patients and State in Iran, Study Says
August 8, 2019
Gaucher disease is among the more costly of chronic diseases to treat in Iran, ...
Psychologist Living with Gaucher Strives to Be ‘Role Model of Success’
August 5, 2019August 5, 2019
When school psychologist Wayne Rosenfield was 5 years old, he had an enlarged spleen. ...
Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
August 2, 2019August 1, 2019
Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
August 1, 2019
Scoring Swallowing Problems Helps Stage Neurological Decline in Type 2 GD Infants
August 1, 2019
Scientist Gets Funding to Create 3-D Bone Tissue Model for Gaucher
July 29, 2019

Centogene Rolls Out Free Biomarker App for Gaucher Patients
July 25, 2019July 25, 2019
Germany’s Centogene is introducing a free smartphone app that lets people with Gaucher disease ...
Pentosan Polysulfate May Reduce Inflammation in Gaucher, Fabry, Study Suggests
July 22, 2019
European Initiative Targets Diagnosis, Treatment of Rare Diseases
July 18, 2019
New Mouse Model of Gaucher Type 3 May Aid Studies into Disease and Possible Treatments
July 15, 2019July 15, 2019

Lyso-Gb1 Biomarker May Be Useful for Monitoring Disease Activity in Children, Study Suggests
July 11, 2019
Glucosylsphingosine (lyso-Gb1) seems to be a useful biomarker for monitoring disease activity in children ...
Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients
July 5, 2019July 8, 2019
World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
July 4, 2019July 4, 2019

News

Patients on Enzyme Replacement Therapy May Be Prone to Psychiatric Disorders, Study Suggests
July 1, 2019
Gaucher disease patients on enzyme replacement therapy may be prone to psychiatric disorders, according ...
News

Experts Identify Early Signs and Factors of Gaucher Disease to Help Reduce Diagnostic Delays
June 27, 2019
The Gaucher Earlier Diagnosis Consensus (GED-C) initiative — a global project aimed at building ...
News

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
June 25, 2019
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy ...
News

Cerdelga Has Favorable Long-term Safety Profile in Patients with Type 1 Gaucher Disease, Pooled Trial Data Show
June 24, 2019June 24, 2019
Cerdelga (eliglustat) has a favorable long-term safety profile consistent with previous observations among patients ...
News

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
June 21, 2019June 20, 2019
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to ...
News

Non-motor Symptoms Preceding Parkinson’s Onset Prevalent in Gaucher Type 1, Study Finds
June 20, 2019
Non-motor symptoms associated with the eventual development of Parkinson’s disease are prevalent in Gaucher ...
News

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy
June 17, 2019
People with rare diseases know that the right government policies can make a big ...
News

Gaucher Type 3C Evaluations Should Include Heart, Lungs, Researchers Say
June 13, 2019June 13, 2019
Some patients with Gaucher disease type 3c may develop non-calcified lesions in their coronary ...
News

Case Report of Sisters with Gaucher Underscores Importance of Early Diagnosis
June 6, 2019
Gaucher disease may have very distinct manifestations, even among genetically similar people with the ...

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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