Updates

May 22, 2019May 22, 2019
New Genetic Variant May Help Explain Variability of Symptom Onset, Study Says

Scientists have discovered a genetic variant that might help explain why some people with Pompe disease experience their first symptoms earlier or later in ... Read more
May 16, 2019May 16, 2019
Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose ... Read more
May 8, 2019May 8, 2019
Pompe Disease More Common Than Previously Believed, Experts Say

Pompe disease, an inherited lysosomal storage disorder, is much more common than once thought, say several experts speaking at the Muscular Dystrophy Association’s recent ... Read more
May 1, 2019
PALS Uplifts the Spirits of Rare-Disease Patients by Offering Free Flights

Cumbersome security procedures, rising airfares, and shrinking legroom have made commercial air travel difficult enough these days — even for healthy passengers. Imagine how ... Read more
April 24, 2019April 24, 2019
Fascination With Pompe Led Miami Neurologist to Netherlands Years Ago

Few people have heard of Pompe disease, and even fewer know anything about Joannes Cassianus Pompe — the Dutch pathologist who in 1931 characterized the ... Read more

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News

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 ...
News

3 Rare Cases Link Atypical Symptoms, New Genetic Mutations to Juvenile-onset Pompe Disease
April 10, 2019April 10, 2019
New genetic mutations and uncommon clinical symptoms, including skeletal alterations and developmental delay, were ...
News

Failed Activation of Satellite Cells Underlies Deficient Muscle Repair in Pompe Disease, Mouse Study Suggests
April 3, 2019April 3, 2019
Muscle repair in Pompe disease is compromised by failed activation of muscle cells’ precursors ...
News

Amicus Therapeutics Gets Two U.S. Patents as Part of AT-GAA Therapy’s Development
March 27, 2019March 27, 2019
Amicus Therapeutics received two U.S. patents for ATB200, a unique recombinant (lab-made) human acid ...
News

Growth Factor Levels May Help Track Progression of Adult-onset Pompe Disease, Study Suggests
March 20, 2019March 20, 2019
Measuring the blood levels of the platelet-derived growth factor BB (PDGF-BB) allows researchers to ...
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 ...

Rare Childhood Disorders Pose Significant Impact on Quality of Life of Children and Parents, Study Reports
March 13, 2019March 13, 2019
Rare childhood disorders, including Pompe disease, pose a significant estimated impact on the quality of ...
Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
March 13, 2019March 13, 2019
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn ...
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
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

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 ...
Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
February 13, 2019February 13, 2019
Phase 1/2 Trial Investigating ACTUS-101 Gene Therapy for Pompe Disease Doses First Patient
February 6, 2019February 6, 2019
ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration
February 5, 2019February 5, 2019

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 ...
Amicus CEO on a Mission to Cure Pompe and Help His Two Children
January 30, 2019January 30, 2019
Aldevron Will Supply Plasmid DNA for Sarepta’s Gene Therapy Programs in Long-term Partnership
January 23, 2019January 23, 2019

News

Voice Quality of Patients with Late-Onset Pompe Disease Deteriorates Over Time, Study Shows
January 16, 2019January 16, 2019
Patients with late-onset Pompe disease demonstrated a deterioration in voice quality over a period ...
News

Audentes Therapeutics Plans to File Investigational New Drug Application for Potential Pompe Disease Gene Therapy This Year
January 9, 2019January 9, 2019
Audentes Therapeutics plans to submit an investigational new drug (IND) application for its Pompe ...
News

First Late-Onset Pompe Disease Patient Treated With AT-GAA in Phase 3 Trial
January 3, 2019January 3, 2019
Amicus Therapeutics has dosed the first patient in the Phase 3 PROPEL clinical trial ...
News

Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish
December 20, 2018December 20, 2018
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures ...
News

Late-Onset Pompe Disease Mix with Findings of Amyloidosis in Patient, Case Study Reports
December 19, 2018December 19, 2018
Manifestations of Pompe disease — its suspected signs or symptoms — can mimic diagnostic ...
News

Enzyme Replacement Therapy for Pompe Disease Could Be Derived From Rice, Study Suggests
December 12, 2018December 12, 2018
A research team in Korea has developed a new method using rice to produce ...

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