Updates

March 15, 2019March 14, 2019
Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as ... Read more
March 13, 2019March 13, 2019
Rare Childhood Disorders Pose Significant Impact on Quality of Life of Children and Parents, Study Reports

Rare childhood disorders, including Pompe disease, pose a significant estimated impact on the quality of life of affected children and their parents, a study reports. ... Read more
March 13, 2019March 13, 2019
Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases ... Read more
March 6, 2019March 6, 2019
NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the ... Read more
February 26, 2019February 26, 2019
Amicus’ AT-GAA Gets FDA’s Breakthrough Therapy Designation

The U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation (BTD) to Amicus Therapeutics’ lead therapy candidate for the treatment of late-onset ... Read more

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News

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
February 26, 2019February 26, 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 20, 2019
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city ...
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, ...

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
On a Friday the 13th some 20 years ago, 15-month-old Megan Crowley was diagnosed ...
Aldevron Will Supply Plasmid DNA for Sarepta’s Gene Therapy Programs in Long-term Partnership
January 23, 2019January 23, 2019
Voice Quality of Patients with Late-Onset Pompe Disease Deteriorates Over Time, Study Shows
January 16, 2019January 16, 2019
Audentes Therapeutics Plans to File Investigational New Drug Application for Potential Pompe Disease Gene Therapy This Year
January 9, 2019January 9, 2019
First Late-Onset Pompe Disease Patient Treated With AT-GAA in Phase 3 Trial
January 3, 2019January 3, 2019

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 ...
Late-Onset Pompe Disease Mix with Findings of Amyloidosis in Patient, Case Study Reports
December 19, 2018December 19, 2018
Enzyme Replacement Therapy for Pompe Disease Could Be Derived From Rice, Study Suggests
December 12, 2018December 12, 2018
Early, Higher Myozyme Dose Effective in Boy With Classic Infantile-onset Pompe, Study Reports
December 5, 2018December 5, 2018

Breathing Exercises Enhanced Respiratory Capacity of Late-onset Pompe Disease Patients
November 28, 2018November 28, 2018
Frequent inspiratory muscle training — a set of breathing exercises to strengthen the respiratory ...
Most Pompe Disease Patients Should Practice Pulmonary Hygiene on Daily Basis, Study Suggests
November 21, 2018November 21, 2018
Low Activity of Enzymes Involved in Pompe, Fabry Diseases Linked to More Dilated Arteries in Brain, Study Reports
November 7, 2018November 7, 2018

News

Break in ERT Treatment Linked to Worse Outcomes in Late-Onset Pompe Patients, Study Reports
October 31, 2018October 31, 2018
Long-term interruption of enzyme replacement therapy (ERT) can lead to negative outcomes for late-onset Pompe disease patients, affecting ...
News

Lantern Project Intends to Streamline Diagnosis of Pompe, Other Rare Diseases
October 24, 2018October 24, 2018
Sanofi Genzyme and PerkinElmer Genomics have launched the Lantern Project, a comprehensive genetic testing ...
News

Methotrexate Seen to Counter Immune Reaction to Enzyme Replacement Therapy in Small Study
October 17, 2018October 17, 2018
Low-dose treatment with methotrexate can reduce the immune reaction that often accompanies enzyme replacement ...
News

Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments
October 10, 2018
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced ...
News

Spark Therapeutics’ SPK-3006 Shows Promising Preclinical Data for Treating Pompe Disease
October 10, 2018October 10, 2018
Spark Therapeutics has announced promising preclinical data from animal studies regarding its experimental gene ...
News

#NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington
September 21, 2018
More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to ...

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

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