Understanding brain and nerve changes in 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 aims to investigate the long-term health effects of Pompe disease, focusing on identifying abnormal changes in the brain and peripheral nerves. Researchers will collect clinical data through various assessments, including neuroimaging techniques like MRI, MRS, and DTI, as well as evaluations of cognitive, academic, speech, and physical therapy outcomes. Participants will be monitored over a period of 3 to 6 years to establish correlations between neurological findings and developmental outcomes.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD)

Exclusion Criteria:

* Refusal to give informed consent

Where it's running

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

Study contacts

• Principal investigator: Priya Kishnani, MD — Duke University
• Study coordinator: Gretchen Nichting
• Email: gretchen.nichting@duke.edu
• Phone: +1 919 660 0757

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

• 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.