Global registry for tracking Pompe disease outcomes

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

The Pompe Registry is an international, longitudinal program that collects data on patients with Pompe disease to understand its natural history and outcomes. It includes both treated and untreated patients and aims to enhance knowledge about the disease's variability and progression. The registry also supports the development of monitoring recommendations and evaluates the long-term effectiveness of treatments like alglucosidase alfa. Data collected will fulfill regulatory commitments and aid in product development and reimbursement.

Why it matters

Who can join: the full rules

Inclusion Criteria:

All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations.

Exclusion Criteria:

There are no exclusion criteria in this Registry

Where it's running

• University of Alabama at Birmingham- Site Number : 840106
  Birmingham, Alabama, United States Recruiting
• Barrow Neurological Institute- Site Number : 840087
  Phoenix, Arizona, United States Recruiting
• Phoenix Children's Hospital- Site Number : 840003
  Phoenix, Arizona, United States Recruiting
• Arkansas Children's Hospital- Site Number : 840109
  Little Rock, Arkansas, United States Recruiting
• University of Arkansas for Medical Sciences- Site Number : 840113
  Little Rock, Arkansas, United States Recruiting
• Southern California Permanente Medical Group- Site Number : 840108
  Los Angeles, California, United States Recruiting

+232 more sites. See ClinicalTrials.gov for the full list.

Study contacts

• Study coordinator: Trial Transparency email recommended (Toll free number for US & Canada)
• Email: contact-us@sanofi.com
• Phone: 800-633-1610

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

• Avalglucosidase alfa treatment for children with Pompe disease

  This study is testing a new treatment called avalglucosidase alfa to see if it helps children with infantile-onset Pompe disease feel better over a year.

  Recruiting Phase 4 Sanofi · Shanghai · NCT06666413

• Global registry for patients with Pompe disease

  This study is collecting information from people with Pompe disease to see how well current treatments work and how they affect daily life, including both those who are being treated and those who aren't.

  Recruiting at 29 sites Amicus Therapeutics · Little Rock, Arkansas and 40 other locations · NCT06121011

• 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

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.