Updates

February 13, 2019February 13, 2019
Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions ... Read more
February 6, 2019February 6, 2019
Phase 1/2 Trial Investigating ACTUS-101 Gene Therapy for Pompe Disease Doses First Patient

The first patient has been dosed in a Phase 1/2 clinical trial evaluating the safety and effects of ACTUS-101, a potential one-time gene therapy ... Read more
February 5, 2019February 5, 2019
ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration

G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like ... Read more
January 31, 2019January 31, 2019
FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— ... Read more
January 30, 2019January 30, 2019
Amicus CEO on a Mission to Cure Pompe and Help His Two Children

On a Friday the 13th some 20 years ago, 15-month-old Megan Crowley was diagnosed with Pompe disease. A few weeks later, so was her ... Read more

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News

Aldevron Will Supply Plasmid DNA for Sarepta’s Gene Therapy Programs in Long-term Partnership
January 23, 2019January 23, 2019
Sarepta Therapeutics and Aldevron have entered into a long-term partnership focusing on the supply of ...
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 ...

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 ...
Early, Higher Myozyme Dose Effective in Boy With Classic Infantile-onset Pompe, Study Reports
December 5, 2018December 5, 2018
Early treatment with a four times higher dose of Myozyme (alglucosidase alpha) was safe and ...
Breathing Exercises Enhanced Respiratory Capacity of Late-onset Pompe Disease Patients
November 28, 2018November 28, 2018
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
Break in ERT Treatment Linked to Worse Outcomes in Late-Onset Pompe Patients, Study Reports
October 31, 2018October 31, 2018

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 ...
Methotrexate Seen to Counter Immune Reaction to Enzyme Replacement Therapy in Small Study
October 17, 2018October 17, 2018
Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments
October 10, 2018
Spark Therapeutics’ SPK-3006 Shows Promising Preclinical Data for Treating Pompe Disease
October 10, 2018October 10, 2018

#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 ...
Screening Programs May Identify Newborns at Risk for Late-onset Pompe Disease, Other Lysosomal Storage Disorders
September 19, 2018September 19, 2018
Amicus Announces Plans for Developing AT-GAA to Treat Pompe Disease
September 12, 2018September 12, 2018

News

Newborn Screening Better Than Clinical Exam at Detecting Pompe Disease, Study Shows
September 5, 2018September 5, 2018
Newborn screening seems better at identifying Pompe disease cases than a clinical examination, especially for ...
News

Perlara Partners with Notre Dame to Develop Therapies for Pompe, Cori Diseases
August 29, 2018August 29, 2018
Perlara biotech is collaborating with the University of Notre Dame in Indiana and the Warren Family Research ...
News

Clenbuterol Seen to Improve ERT Effectiveness in Pompe Disease Clinical Trial
August 22, 2018August 22, 2018
Clenbuterol as an add-on therapy appears to be safe and significantly improves the effectiveness ...
News

FDA Clears Diagnostic Kit to Screen Newborns for Pompe and 5 Other Lysosomal Storage Disorders
August 9, 2018August 9, 2018
PerkinElmer announced that its in-vitro diagnostic (IVD) kit able to test newborns for the six most commonly ...
News

Immunomodulation Plus Myozyme May Help Infants with Pompe Disease, But Seen to Carry Risks in Study
August 1, 2018August 1, 2018
Adding immunomodulatory medicines to enzyme replacement therapy (ERT) — Myozyme (alglucosidase alfa) — gives temporary but ...
News

Quantitative Muscle MRI Can Help Monitor Late-onset Pompe Disease, Study Shows
July 25, 2018July 25, 2018
Magnetic resonance imaging (MRI) seems to be an effective and efficient tool to evaluate ...

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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