Condition

Pompe Disease clinical trials and research

• 9Clinical trials
• 43Countries

Newest Pompe Disease clinical trials

All recruiting trials (9)

• 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

• 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

• 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

• Long-term follow-up of individuals with Pompe disease

  This study looks at how people with infantile Pompe disease respond to enzyme replacement therapy over time and how their immune system affects their treatment.

  Recruiting Duke University · Durham, North Carolina · NCT01665326

• Global registry for tracking Pompe disease outcomes

  This study is tracking the health and progress of people with Pompe disease to learn more about how it affects them and to see how well treatments are working.

  Recruiting at 207 sites Sanofi · Birmingham, Alabama and 281 other locations · NCT00231400

Related topics

Quick answers

How many Pompe Disease clinical trials are recruiting right now?

9, as of November 12, 2026. We update this list each time we refresh our data from ClinicalTrials.gov.

Where are these trials running?

In 43 countries. The most sites are in United States (5 trials), Italy (4 trials), Belgium (3 trials), Denmark (3 trials), Germany (3 trials). Each study page lists its sites and which ones are recruiting.

What phases are they in?

Phase 2: 1. Trials with no phase listed are usually device, behavioural or observational studies.

How do I join one?

Open a study, check the "Is this trial a fit for you?" section, then contact the study team listed on the page. They will ask a few screening questions. Asking is free and does not commit you to anything. Talk it over with your doctor first.

Find the studies that fit you

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