Updates

April 17, 2019April 17, 2019
Obstructive Sleep Apnea Not More Severe or Frequent in Patients with Mild Fabry Disease, Study Says

Patients with mild Fabry disease do not have a higher prevalence or severity of obstructive sleep apnea when compared with the general population, a study suggests. However, these ... Read more
April 10, 2019April 10, 2019
Objective Cognitive Impairment Linked to Sex, Stroke, and IQ, Study Shows

Male sex, history of stroke, and intelligence quotient (IQ) are associated with an increased risk of objective cognitive impairment in Fabry disease patients. Depressive symptoms, ... Read more
April 3, 2019April 3, 2019
Female Patients and Their Doctors Must Be More Aware of Fabry Symptoms, Treatment, Study Says

Although most women with Fabry disease have mild but typical manifestations, many are not prescribed enough treatment, including enzyme replacement therapy (ERT), according to a ... Read more
March 27, 2019March 27, 2019
Galafold has Positive Effect on Fabry Patients with Amenable Mutations, Study Shows

Amicus Therapeutics‘ Galafold (migalastat) provides clinical benefit to patients carrying amenable Fabry disease mutations, regardless of disease severity, a Phase 3 trial shows. The findings ... Read more
March 20, 2019March 20, 2019
Fabry Disease More Common Than Previously Thought, Experts Say

Two of the world’s top experts in Fabry disease, geneticists Dominique Germain of France and Gheona Altarescu of Israel, say the number of people born with ... Read more

News

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn
March 15, 2019March 14, 2019
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will ...
News

Galafold Improves Enzyme Activity and Heart Function in Patients With Amenable Fabry Disease Mutations, Study Says
March 13, 2019March 13, 2019
Galafold (migalastat) increases the activity of alpha-galactosidase A, stabilizes serum biomarkers, and improves heart ...
News

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
March 13, 2019March 11, 2019
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn ...
News

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
March 6, 2019March 5, 2019
Rare diseases affect about 30 million Americans — roughly the same number as those ...
News

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
February 27, 2019February 25, 2019
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government ...
News

Vienna to Host RARE2019 Meeting on Rare Diseases
February 22, 2019February 20, 2019
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city ...

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Phase 3 Trial Shows Increased Stability of PRX-102 Over Other ERTs for Fabry Disease
February 13, 2019February 13, 2019
PRX-102 (pegunigalsidase alfa) is safe for the treatment of patients with Fabry disease and ...
Gene Therapy AVR-RD-01 Shows Sustained Efficacy in Early Trial Data
February 12, 2019February 27, 2019
Treatment with the gene therapy candidate AVR-RD-01 showed sustained efficacy and was well-tolerated in ...
Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
February 11, 2019
New Splicing Mutation in GLA Gene That Leads to Shorter Protein Found in Fabry Patient, Study Says
February 6, 2019February 6, 2019
ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration
February 4, 2019February 6, 2019
FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases
January 30, 2019January 30, 2019

Enzyme Replacement Therapy Partially Restores Cellular Functions in Patients With Fabry and Gaucher Diseases, Study Finds
January 23, 2019January 23, 2019
Enzyme replacement therapy (ERT) partially restores the function of lysosomes and mitochondria in patients ...
Avrobio Earns FDA Orphan Drug Designation for Fabry Treatment AVR-RD-01
January 16, 2019January 16, 2019
Protalix BioTherapeutics Completes Enrollment for PRX-102 Phase 3 Trial
January 8, 2019January 8, 2019
Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish
December 20, 2018December 20, 2018

LysoGb3 Blood Levels Can Help Diagnose Fabry Disease, Large Study Shows
December 18, 2018December 18, 2018
Globotriaosylsphingosine (LysoGb3) blood levels can be a useful and accurate biomarker to diagnose and ...
Fabry Stabilization Index (FASTEX) Deemed Valid, Specific for Patient Monitoring
December 4, 2018December 4, 2018
Replagal, an ERT, Appears Safe for Use During Pregnancy and Nursing, Case Study Reports
November 27, 2018November 27, 2018

News

The Assistance Fund Now Offering Financial Help to Eligible Fabry Disease Patients
November 20, 2018November 20, 2018
To help reduce out-of-pocket medical expenses associated with managing and treating Fabry disease, an ...
News

ERT Dose Should be Tailored to Patient for Optimal Effectiveness, Study Shows
November 13, 2018November 13, 2018
Adjusting the dose of enzyme replacement therapy (ERT) for each patient may be essential ...
News

Fabry Disease Symptoms’ Variability Goes Beyond Genetics, Report of 10 Cases Shows
November 6, 2018November 6, 2018
Fabry disease patients who share the same genetic mutation in the GLA gene may ...
News

#NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach
October 30, 2018October 29, 2018
With the U.S. midterm elections now less than two weeks away, patient advocacy groups ...
News

Absence of Lesions in Two Specific Brain Regions May Help Distinguish Fabry Disease from MS, Study Shows
October 30, 2018October 30, 2018
The absence of white matter lesions (WMLs) in two specific regions of the brain ...
News

Young Fabry Disease Patients Show Brain Lesions in the Absence of Clinical History of Stroke
October 25, 2018October 25, 2018
Children and adolescents with Fabry disease who have no clinical history of stroke, show asymptomatic brain lesions, ...

February 6, 2018February 6, 2018

Protalix’s Pegunigalsidase Alfa Granted FDA Fast Track Status for Fabry Disease

News

The U.S. Food and Drug Administration (FDA) has granted fast track designation to pegunigalsidase alfa, or PRX-102, Protalix BioTherapeutics’ therapy candidate under development for Fabry disease. FDA’s fast track status is designed to facilitate the development and speed up FDA review ... Read more

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