A Global Prospective Observational Registry of Patients With Pompe Disease (NCT06121011)
🩺 Plain-English Summary (8th-Grade Level)
This is a global, multicenter, prospective, observational registry of patients with Pompe disease, including those with late-onset pompe disease (LOPD) and infantile-onset pompe disease (IOPD). Both untreated patients and those being treated with an approved therapy for Pompe disease are eligible to participate. The objectives of the registry are: * To evaluate the long-term safety of Pompe disease treatments through collection of data that describe the frequency of adverse events (AEs)/serious adverse events (SAEs) occurring in Pompe disease patients * To evaluate the long-term real-world effectiveness of Pompe disease treatments * To evaluate the long-term real-world impact of Pompe disease treatments on quality of life (QOL) and patient-reported outcomes (PROs) * To describe the natural history of untreated Pompe disease
Who can join: Review the eligibility criteria below.
Location: University of Arkansas Medical Science — Little Rock, Arkansas
🧪 Interventions in This Study
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (41 Sites)
Showing the first 25 of 41 sites.
- University of Arkansas Medical Science — Little Rock, Arkansas
- University of California Irvine — Irvine, California
- Wolfson Children's Hospital — Jacksonville, Florida
- Emory University — Atlanta, Georgia
- Indiana University, IU Health Physicians Neurology — Indianapolis, Indiana
- Washington University School of Medicine — St Louis, Missouri
- NYU Neurogenetics, NYU Langone Medical Center — New York, New York
- Duke University Medical Center — Durham, North Carolina
- University of Cincinnati Medical Center — Cincinnati, Ohio
- Cincinnati Children's Hospital — Cincinnati, Ohio
- University of Pennsylvania Perelman Center for Advanced Medicine — Philadelphia, Pennsylvania
- University of Pittsburgh — Pittsburgh, Pennsylvania
- UPMC Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania
- University of Utah — Salt Lake City, Utah
- Lysosomal and Rare Disorders Research and Treatment Center, Inc. — Fairfax, Virginia
- Medizinische Universitaet Wien — Vienna,
- Laboratory for Muscle Diseases and Neuropathies — Leuven,
- Aarhus Universitets hospital — Aarhus C,
- Ruhr-Universität Bochum im St. Josef-Hospital — Bochum,
- SphinCS, Institute of Clinical Science in LSD — Höchheim,
- Universitätsklinikum Gießen und Marburg GmhH — Marburg,
- Universitat Munchen - Friedrich Baur Institut — München,
- Universitaetsklinikum Ulm — Ulm,
- Eginition Hospital — Athens,
- University of Pécs — Pécs,
📞 Contact the Study Coordinator
Phone: (609) 662-2000
Email: patientadvocacy@amicusrx.com
Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in Pompe Disease
- Developing a Management Approach for Patients With "Late-Onset" Pompe Disease — Durham, North Carolina
- A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) — Phoenix, Arizona
- Cognitive and Neurological Pathologies in Pompe Disease — Durham, North Carolina
- Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease — Durham, North Carolina
- Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD) — Irvine, California
Explore by condition: All Pompe Disease clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Contact the study coordinator using the phone/email above.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.