Global registry for patients with Pompe disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This global, multicenter, prospective observational registry aims to gather data on patients with Pompe disease, including both late-onset and infantile-onset forms. It will evaluate the long-term safety and effectiveness of existing treatments, as well as the impact on quality of life and patient-reported outcomes. The registry will include both treated and untreated patients, allowing for a comprehensive understanding of the disease's natural history and treatment effects.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Diagnosis of LOPD or IOPD based on documented deficiency of GAA enzyme activity and/or GAA genotyping

Exclusion Criteria:

* Patients who are currently receiving investigational therapy for Pompe disease in a clinical trial, a compassionate use program, or an expanded access program (EAP)

Where it's running

• University of Arkansas Medical Science
  Little Rock, Arkansas, United States Recruiting
• University of California Irvine
  Irvine, California, United States Recruiting
• Wolfson Children's Hospital
  Jacksonville, Florida, United States Recruiting
• Emory University
  Atlanta, Georgia, United States Recruiting
• Indiana University, IU Health Physicians Neurology
  Indianapolis, Indiana, United States Recruiting
• Washington University School of Medicine
  St Louis, Missouri, United States Recruiting

Study contacts

• Study coordinator: For Site
• Email: patientadvocacy@amicusrx.com
• Phone: 609-662-2000

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Pompe disease long-term monitoring with avalglucosidase alfa

  This is an observational program to see how people with Pompe disease who started avalglucosidase alfa fare over time, including biomarkers, muscle and breathing function, and safety.

  Recruiting National Taiwan University Hospital · Taipei, Taiwan · NCT07834320

• Phrenic nerve and diaphragm testing in Pompe disease

  This study tests phrenic nerve conduction and diaphragm activity in adults with Pompe disease to explore respiratory motor-unit involvement.

  Recruiting IRCCS National Neurological Institute "C. Mondino" Foundation · Pavia · NCT07664930

• S-606001 added to enzyme replacement therapy for adults with late-onset Pompe disease

  This trial tests whether adding S-606001 to ongoing enzyme replacement therapy is safe and can improve walking distance and breathing in adults with late-onset Pompe disease.

  Recruiting at 27 sites Phase 2 Shionogi Inc. · Irvine, California and 27 other locations · NCT07123155

• Safety study of avalglucosidase alfa during pregnancy

  This study is looking at how safe the drug avalglucosidase alfa is for pregnant women and their babies during pregnancy and breastfeeding.

  Recruiting Sanofi · Bridgewater, New Jersey · NCT05734521

• Understanding brain and nerve changes in Pompe disease

  This study looks at how Pompe disease affects the brain and nerves over time to see what changes happen and how they relate to everyday skills in people living with the condition.

  Recruiting Duke University · Durham, North Carolina · NCT04639336

• Long-term follow-up for patients with Pompe disease receiving treatment

  This study is tracking patients with Pompe disease who are getting enzyme replacement therapy to see how well the treatment works over time.

  Recruiting National Taiwan University Hospital · Taipei · NCT02399748

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.