Latest News
Newborn Screening May Predict Late-Onset Pompe Disease
COVID-19 May Be Benign in Patients With Late-Onset Pompe Disease
New Agreement Could Facilitate Imlifidase as Pompe Disease Pretreatment
Clear Panel Design Criteria Can Ensure Accuracy of LCFAOD Diagnosis
Newborn Screening for Pompe Disease Recommended in More Regions
Glycosylated Proteins May Help Improve Pompe Disease Outcomes
Cardiac Depression Can Occur Despite Normal Reports in Pompe Disease
Patients With LOPD Show Contrasting Brain Findings Compared to IOPD
Interruption of Enzyme Replacement Therapy Can Worsen Function in LOPD
Higher Dosage of Alglucosidase Alfa Improves Survival Rates in IOPD
Genotyping Can Help Distinguish Early Juvenile-Onset Pompe Disease
Investigational Dual Therapy Not Superior in Late-Onset Pompe Disease Trial
Study Yields Insights on Children With Inborn Errors of Metabolism
Next-Generation Sequencing May Improve Diagnosis of Lysosomal Storage Diseases
Latest Clinical Trials
Features
Parents of South Dakota Boy With Pompe Disease Push for Nationwide Newborn Screening
Meg and Christopher Haberman, whose son Isaac has Pompe disease, are strong advocates for nationwide newborn screening for Pompe.
MDA 2022 Conference to Focus on Promising Therapies for SMA, DMD
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) will take center stage early next year at the first in-person annual gathering of the Muscular Dystrophy Association (MDA) since March 2019. The 2022 MDA Clinical & Scientific Conference, set for March 13-16 in Nashville, Tennessee, is expected to attract between 700 and 800 people in…
Israel Emerges as Global Powerhouse in Rare Disease Research
TEL AVIV, Israel — On the 6th floor of Schneider Children’s Hospital in the Tel Aviv suburb of Petah Tikva, 30 children with Alagille syndrome and 2 with lysosomal acid lipase deficiency (LAL-D) receive specialized treatment from a trio of pediatric hepatologists. Across town, at Sheba Medical Center’s Edmond and Lily Safra Children’s Hospital, pediatric…
Patient Perspectives
Should Doctors Steer Rare Disease Patients Away From Starting a Family?
I thought it was normal to want to get married and start a family, but I learned very fast that society doesn’t see that for us rare disease patients.
Daily Nutrition and Support on the Long Road From Diagnosis to Living With Pompe
Pompe disease columnist Bruce Campbell discusses issues related to the long road from symptoms to diagnosis and the importance of nutritional practices.
My Daughter’s Fatal Struggle With Pompe, Then My Diagnosis With NMOSD
Part 1 of 2: Neuromyelitis optica spectrum disorder (NMOSD) columnist Teaira Daniels sets the stage for how rare diseases turned her world upside down.
How Stress Can Become the Tipping Point for Pompe Patients
Once I figured out stress was causing huge reactions in my body, I started looking at ways to manage and gain control over the responses of my body.
Pompe Disease Clinical Insights
Getting the Most out of ERT in Infantile-Onset Pompe Disease Patients
The approval of enzyme replacement therapy for infantile-onset Pompe disease changed it from a life-threatening disease within the first years of life into a chronic condition.
Detecting Respiratory Deterioration in Pompe Disease
What causes respiratory deterioration typically observed in Pompe disease, and what can clinicians do about it?
What Do We Know About the Long-Term Outcomes of ERT in LOPD?
The only effective treatment for Pompe disease is enzyme replacement therapy. However, long-term outcomes of the therapy remain largely unknown.
The Role of Muscle MRI in Tracking the Progress of Patients With Pompe Disease
Muscle MRI is a useful tool to track disease progression in late-onset Pompe disease patients, especially when using new MRI technology.
Rare Care Podcast
Barry Byrne, MD, director of the University of Florida’s Powell Gene Therapy Center in Gainesville, has spent years researching potential gene therapies for Pompe disease. In this edition of the Rare Care podcast, Dr. Byrne comments on the FDA’s recent approval of avalglucosidase alfa-ngpt (Nexviazyme) to treat Pompe, as well the future of gene therapies in treating the disease.
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