Updates

June 26, 2019June 26, 2019
NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the ... Read more
June 21, 2019
Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their ... Read more
June 19, 2019June 19, 2019
‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those ... Read more
June 12, 2019June 12, 2019
Asthma Medicine Salmeterol Improves Effectiveness of Gene Therapy for Pompe Disease, Mouse Study Suggests

Salmeterol, a vasodilator approved for the treatment of asthma and chronic obstructive pulmonary disease (COPD), has shown potential to improve the effectiveness of gene ... Read more
June 5, 2019June 5, 2019
Amicus, Perelman School of Medicine Expand Collaboration to Develop Gene Therapies

Amicus Therapeutics and the Perelman School of Medicine at the University of Pennsylvania have expanded their research collaboration to develop new gene therapies for ... Read more

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News

Gene Therapy Candidate Holds Promise for Correcting Pompe Disease in Muscles and Brain, Mouse Study Suggests
May 29, 2019May 30, 2019
Amicus Therapeutics announced positive preclinical data showing that its investigational gene therapy for Pompe ...
News

Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries
May 29, 2019May 29, 2019
RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims ...
News

New Genetic Variant May Help Explain Variability of Symptom Onset, Study Says
May 22, 2019May 22, 2019
Scientists have discovered a genetic variant that might help explain why some people with ...
News

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns
May 16, 2019May 16, 2019
With 250 rare diseases newly identified every year, scientists can barely keep up — ...
News

Pompe Disease More Common Than Previously Believed, Experts Say
May 8, 2019May 8, 2019
Pompe disease, an inherited lysosomal storage disorder, is much more common than once thought, ...
News

PALS Uplifts the Spirits of Rare-Disease Patients by Offering Free Flights
May 1, 2019
Cumbersome security procedures, rising airfares, and shrinking legroom have made commercial air travel difficult ...

Fascination With Pompe Led Miami Neurologist to Netherlands Years Ago
April 24, 2019April 24, 2019
Few people have heard of Pompe disease, and even fewer know anything about Joannes ...
Chinese Pompe Patients Show Symptoms a Decade Earlier Than Others, Review Finds
April 17, 2019April 17, 2019
Chinese patients with late-onset Pompe disease develop symptoms and are diagnosed at least 10 ...
3 Rare Cases Link Atypical Symptoms, New Genetic Mutations to Juvenile-onset Pompe Disease
April 10, 2019April 10, 2019
Failed Activation of Satellite Cells Underlies Deficient Muscle Repair in Pompe Disease, Mouse Study Suggests
April 3, 2019April 3, 2019
Amicus Therapeutics Gets Two U.S. Patents as Part of AT-GAA Therapy’s Development
March 27, 2019March 27, 2019
Growth Factor Levels May Help Track Progression of Adult-onset Pompe Disease, Study Suggests
March 20, 2019March 20, 2019

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 ...
Rare Childhood Disorders Pose Significant Impact on Quality of Life of Children and Parents, Study Reports
March 13, 2019March 13, 2019
Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
March 13, 2019March 13, 2019
NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
March 6, 2019March 6, 2019

Amicus’ AT-GAA Gets FDA’s Breakthrough Therapy Designation
February 26, 2019February 26, 2019
The U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation (BTD) to ...
WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
February 26, 2019February 26, 2019
Vienna to Host RARE2019 Meeting on Rare Diseases
February 20, 2019

News

Late-onset Pompe Patient Gave Birth Twice to Healthy Infants While on Lumizyme, Case Study Reports
February 20, 2019February 20, 2019
A woman with late-onset Pompe disease went through two successful pregnancies and births while ...
News

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
February 13, 2019February 13, 2019
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities ...
News

Phase 1/2 Trial Investigating ACTUS-101 Gene Therapy for Pompe Disease Doses First Patient
February 6, 2019February 6, 2019
The first patient has been dosed in a Phase 1/2 clinical trial evaluating the ...
News

ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration
February 5, 2019February 5, 2019
G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, ...
News

FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases
January 31, 2019January 31, 2019
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug ...
News

Amicus CEO on a Mission to Cure Pompe and Help His Two Children
January 30, 2019January 30, 2019
On a Friday the 13th some 20 years ago, 15-month-old Megan Crowley was diagnosed ...

May 2, 2018May 2, 2018

Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports

News

Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was ... Read more