News CHOC Children’s Given $8M to Develop Next-Generation Therapies for Pompe Disease

News Amicus Completes Patient Enrollment for Phase 3 Trial of AT-GAA; Remains on Track to File BLA in 2021

News The Assistance Fund Now Includes Pompe Disease

News Problems with Diaphragm Evident in Lung Function Tests of LOPD Patients, Study Reports

News Nerve Damage-induced Muscle Atrophy Coexists with Pompe Disease, Study Asserts

News MDA Seeks Patient Input for First Pompe Disease Drug Development Meeting in Washington

News Gene Therapy Takes Center Stage at 2019 NORD Summit

News HHS Secretary Alex Azar Touts White House Efforts to Cure Rare Diseases

News Experts Barry Byrne, Jerry Mendell Lead NORD Webinar on Gene Therapy

News Case Report Demonstrates Presence of Polyneuropathy In LOPD

News Rare Disease Film Festival Highlights Patient and Researcher Unity

News Study Finds Association Between Whole-body MRI Measurements and Muscle Function Scores

News Molecular ‘Tag’ Improves Efficacy of Gene Therapy for Pompe Disease in Mice, Study Shows

News Enzyme Replacement Therapy Loses Effectiveness in Pompe Patients with Long-term Use, Study Suggests 

News Active Ingredient of Blood Pressure Treatment Boosts ERT’s Efficacy in Skeletal Muscles, Mouse Study Suggests

News Fluid Build-up in Newborn Could Be Sign of Infantile-onset Pompe, Case Study Says

News AT-GAA Continues to Induce Motor, Lung Improvements in Pompe Adult Patients, Phase 1/2 Study Shows

News Enzyme Replacement Therapy Safe, Effective for Pompe Patients in Japan, Study Shows

News NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

News Direct Referral to Expert Centers May Lead to Early Pompe Diagnosis, Study Suggests

News ACE Gene Variations Not Linked to Disease Variability or Response to ERT, Study Says

News Study Presents Clinical, Genetic Landscape of Pompe Disease

News ‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

News At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing

News Amicus CEO John Crowley Outlines Progress in Pompe, Fabry, Batten Therapies

News Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

News ERT for Late-onset Pompe Not Linked to Increased Risk of White Matter Lesions

News Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

News Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

News Wearable Technology Can Help Monitor Mobility Patterns in Late-Onset Pompe, Study Shows

News Start ERT in Symptomatic Late-onset Pompe Patients, Study Says

News European Initiative Targets Diagnosis, Treatment of Rare Diseases

News Extended Database Links Pompe Mutations to Predicted Clinical Severity

News Tongue Abnormalities Seen on MRI are Common in Late-Onset Pompe, Study Says

News World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

News Amicus and Paragon Working to Advance Potential Gene and Other Therapies for Rare Diseases Like Pompe

News NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

News Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

News ‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

News Asthma Medicine Salmeterol Improves Effectiveness of Gene Therapy for Pompe Disease, Mouse Study Suggests

News Amicus, Perelman School of Medicine Expand Collaboration to Develop Gene Therapies

News Gene Therapy Candidate Holds Promise for Correcting Pompe Disease in Muscles and Brain, Mouse Study Suggests

News Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries

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

News Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

News Pompe Disease More Common Than Previously Believed, Experts Say

News PALS Uplifts the Spirits of Rare-Disease Patients by Offering Free Flights

News Fascination With Pompe Led Miami Neurologist to Netherlands Years Ago

News Chinese Pompe Patients Show Symptoms a Decade Earlier Than Others, Review Finds

News 3 Rare Cases Link Atypical Symptoms, New Genetic Mutations to Juvenile-onset Pompe Disease

News Failed Activation of Satellite Cells Underlies Deficient Muscle Repair in Pompe Disease, Mouse Study Suggests

News Amicus Therapeutics Gets Two U.S. Patents as Part of AT-GAA Therapy’s Development

News Growth Factor Levels May Help Track Progression of Adult-onset Pompe Disease, Study Suggests

News Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

News Rare Childhood Disorders Pose Significant Impact on Quality of Life of Children and Parents, Study Reports

News Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

News NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

News Amicus’ AT-GAA Gets FDA’s Breakthrough Therapy Designation

News WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April

News Vienna to Host RARE2019 Meeting on Rare Diseases

News Late-onset Pompe Patient Gave Birth Twice to Healthy Infants While on Lumizyme, Case Study Reports

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

News Phase 1/2 Trial Investigating ACTUS-101 Gene Therapy for Pompe Disease Doses First Patient

News ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration

News FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

News Amicus CEO on a Mission to Cure Pompe and Help His Two Children

News Aldevron Will Supply Plasmid DNA for Sarepta’s Gene Therapy Programs in Long-term Partnership

News Voice Quality of Patients with Late-Onset Pompe Disease Deteriorates Over Time, Study Shows

News Audentes Therapeutics Plans to File Investigational New Drug Application for Potential Pompe Disease Gene Therapy This Year

News First Late-Onset Pompe Disease Patient Treated With AT-GAA in Phase 3 Trial

News Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish

News Late-Onset Pompe Disease Mix with Findings of Amyloidosis in Patient, Case Study Reports

News Enzyme Replacement Therapy for Pompe Disease Could Be Derived From Rice, Study Suggests

News Early, Higher Myozyme Dose Effective in Boy With Classic Infantile-onset Pompe, Study Reports

News Breathing Exercises Enhanced Respiratory Capacity of Late-onset Pompe Disease Patients

News Most Pompe Disease Patients Should Practice Pulmonary Hygiene on Daily Basis, Study Suggests

News Low Activity of Enzymes Involved in Pompe, Fabry Diseases Linked to More Dilated Arteries in Brain, Study Reports

News Break in ERT Treatment Linked to Worse Outcomes in Late-Onset Pompe Patients, Study Reports

News Lantern Project Intends to Streamline Diagnosis of Pompe, Other Rare Diseases

News Methotrexate Seen to Counter Immune Reaction to Enzyme Replacement Therapy in Small Study

News Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments

News Spark Therapeutics’ SPK-3006 Shows Promising Preclinical Data for Treating Pompe Disease

News #NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington

News Screening Programs May Identify Newborns at Risk for Late-onset Pompe Disease, Other Lysosomal Storage Disorders

News Amicus Announces Plans for Developing AT-GAA to Treat Pompe Disease

News Newborn Screening Better Than Clinical Exam at Detecting Pompe Disease, Study Shows

News Perlara Partners with Notre Dame to Develop Therapies for Pompe, Cori Diseases

News Clenbuterol Seen to Improve ERT Effectiveness in Pompe Disease Clinical Trial

News FDA Clears Diagnostic Kit to Screen Newborns for Pompe and 5 Other Lysosomal Storage Disorders

News Immunomodulation Plus Myozyme May Help Infants with Pompe Disease, But Seen to Carry Risks in Study

News Quantitative Muscle MRI Can Help Monitor Late-onset Pompe Disease, Study Shows

News Higher Lumizyme Dose May Help Prevent Pompe Progression in Infants, Case Report Suggests

News Severe Heart Disease Rare in Patients with Late-onset Pompe Disease, Study Suggests

News Gene Therapy Using Improved Virus Holds Promise for Pompe Disease Treatment, Mouse Study Shows

News Infantile-onset Pompe Disease Cases Highlight Importance of Early Diagnosis, Treatment

Just Published, News Neuron-specific Gene Therapy May Improve Motor Deficits in Pompe Disease, Mouse Study Shows

News US ‘Right to Try’ Law Meets with Mix of Praise and Criticism, Including Among Those with Rare Diseases

News Pompe Patients Have Abnormalities in Artery that Supplies Blood to the Brain, Study Shows

News #ERDC2018 – When Treating Rare Disease Patients, Don’t Overlook Quality of Life, Panel Urges

News NIH Awards $325K Small Business Grant to Develop Risk Assessment Tool for Pompe Disease