Long-term follow-up of individuals 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 observational study focuses on the natural history of infantile Pompe disease, a genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase. Researchers will collect and analyze medical data over time, including responses to enzyme replacement therapy (ERT) with alglucosidase alfa and the impact of immunosuppressive therapy in patients who develop antibodies against ERT. The study aims to understand the relationship between Cross-Reactive Immunological Material (CRIM) status and treatment outcomes, providing insights into patient tolerance to ERT and potential complications. Regular assessments will include clinical parameters, laboratory values, and antibody testing results.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Confirmed diagnosis of infantile, atypical or juvenile onset Pompe disease
* Must provide a written informed consent

Where it's running

• Duke University Medical Center
  Durham, North Carolina, United States Recruiting

Study contacts

• Principal investigator: Priya S Kishnani, MD — Duke University
• Study coordinator: Ankit K Desai, MBBS
• Email: ankit.desai@duke.edu
• Phone: 919-613-6310

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

• 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

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.