Updates

January 20, 2020January 20, 2020
‘Floaters’ That Impair Vision May Help Track GD3 Severity, Small Study Suggests

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 ... Read more
January 16, 2020January 16, 2020
Avrobio Cleared to Expand to the U.S. its Gene Therapy Trial for Gaucher Disease

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 ... Read more
January 13, 2020January 13, 2020
Type 2 Gaucher Patient Given PR001 Gene Therapy Under Compassionate Use Request

A patient with type 2 Gaucher disease received treatment with Prevail Therapeutics‘ investigational gene therapy PR001 under a compassionate use program, the company said. ... Read more
January 9, 2020January 10, 2020
Novel Genetic Profile Described in Sisters with Gaucher Type 1 Disease

A case report about two sisters in Brazil with Gaucher type 1 disease (GD1) and severe bone disease represents a new genetic profile, researchers ... 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

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 ... Read more

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News

Ambroxol Reverses Bone Damage, Decreases Abnormal Organ Volume in GD Type 1, Case Study Shows
January 2, 2020January 2, 2020
Treatment with ambroxol — a medication used to treat respiratory conditions associated with excessive ...
News

Gaucher Treatment Can Partly Correct Altered Cell Levels in Bone Marrow, Study Says
December 19, 2019December 19, 2019
People with Gaucher disease (GD) show high levels of antibody-making plasma cells in bone ...
News

Chronic Fatigue in Gaucher May Be Linked to Tendon Stiffness, Study Reports
December 16, 2019December 16, 2019
Weakness at the connections between muscles and joints may affect bones and could contribute ...
News

Measuring Lyso-Gb1 Levels Could Provide Prenatal Diagnosis of Gaucher Disease, Study Suggests
December 12, 2019December 12, 2019
A test that measures levels of glucosylsphingosine (or lyso-Gb1) in the blood may help ...
News

Gene Therapy Takes Center Stage at 2019 NORD Summit
December 11, 2019December 11, 2019
With so much recent publicity surrounding gene therapy, it’s no surprise that the topic ...
News

Distinct Genetic Profiles in Single Family Illustrate Challenges to GD Diagnosis, Study Says
December 9, 2019December 9, 2019
Four distinct genetic profiles in Gaucher disease (GD) patients within a single family highlight the ...

Gene Therapy Shows Promise for Treating Gaucher Disease, Mouse Study Reports
December 5, 2019December 5, 2019
A single injection of a liver-targeted gene therapy in mice leads to sustained production ...
HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases
December 5, 2019December 5, 2019
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or ...
Study Finds Peripheral Nerve Damage Not to be Significant Feature of Gaucher Type 3
November 25, 2019November 25, 2019
Myelodysplastic Syndrome Rare, But May Be Under-diagnosed in Gaucher Type 1 Patients, Study Suggests
November 21, 2019November 21, 2019
Long-term ERT Reduces Bleeding But Not Platelet Function Defects in Gaucher Disease, Study Suggests
November 18, 2019November 18, 2019
Rare Disease Film Festival Highlights Patient and Researcher Unity
November 14, 2019

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 ...
Ambroxol Plus ERT Is Safe, Could Halt Neurological Progression in Gaucher, Small Study Suggests
November 7, 2019November 7, 2019
New Test May Help Select Gaucher Patients Best Suited for Chaperone Therapy, Study Suggests
November 4, 2019November 4, 2019
FDA Grants Orphan Designation to AVR‑RD‑02 Gene Therapy for Gaucher Disease
October 31, 2019October 31, 2019

Bone Manifestations Highly Common in Gaucher, Long-term Study Finds
October 28, 2019October 28, 2019
Bone problems are highly common among people with Gaucher disease, with symptoms including chronic ...
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

News

Gaucher Disease Might Be Associated with Rare Types of Blood Cancer, Case Report Suggests
October 10, 2019
Gaucher disease can predispose patients to rare types of blood cancer, and doctors should ...
News

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 ...
News

New Fly Model of Gaucher Disease May Improve Knowledge of Disease Mechanisms, Researchers Say
October 7, 2019
A new fly model of Gaucher disease may more fully summarize and present the ...
News

Pilot Study Demonstrates Feasibility of Gaucher Monitoring with Cell Phones
October 3, 2019
Mobile phone-based monitoring may allow for better measurement of how Gaucher disease affects the ...
News

IGA Uses Tattoos, ‘Rare Stars’ to Mark Oct. 1, International Gaucher Day
September 30, 2019
What began in the early 1990s as an informal gathering of seven European patient ...
News

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, ...
News

Toddler Becomes Youngest Patient to Develop Gaucheroma While on Enzyme Replacement Therapy, Case Study Reports
September 23, 2019
A 15-month-old boy has become the youngest reported patient with Gaucher disease to develop ...
News

Ambroxol Plus ERT Can Ease Neurological Symptoms in Some Gaucher Type 3 Patients, Case Study Suggests
September 19, 2019September 19, 2019
Adding ambroxol to enzyme replacement therapy (ERT) lowers the levels of glucosylsphingosine (lyso-Gb1) — a known ...
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 ...

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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