There are currently 6 active clinical trials seeking participants for Pompe Disease research studies. The states with the highest number of trials for Pompe Disease participants are California, North Carolina, Florida and Pennsylvania.
A Global Prospective Observational Registry of Patients With Pompe Disease
NCT06121011
Recruiting
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)/seriou... Read More
Gender:
ALL
Ages:
All
Trial Updated:
08/11/2025
Locations: University of Arkansas Medical Science, Little Rock, Arkansas +39 locations
Conditions: Pompe Disease
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Pompe Disease Registry Protocol
NCT00231400
Recruiting
The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes. The objectives of the Registry are: * To enhance understanding of t... Read More
Gender:
ALL
Ages:
All
Trial Updated:
08/06/2025
Locations: University Alabama at Birmingham- Site Number : 840106, Birmingham, Alabama +270 locations
Conditions: Glycogen Storage Disease Type II, Pompe Disease
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Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease
NCT01665326
Recruiting
This is a longitudinal natural history study of Infantile Pompe disease. The investigators will regularly collect and review medical information regarding the diagnosis of Pompe disease, response to enzyme replacement (ERT) using alglucosidase alfa (Lumizyme/Myozyme) and response to immunosuppressive therapy in cases at risk for developing or those who have developed high and sustained antibodies to ERT. To follow the long-term outcomes, we will collect medical records including but not limited... Read More
Gender:
ALL
Ages:
All
Trial Updated:
04/15/2025
Locations: Duke University Medical Center, Durham, North Carolina
Conditions: Pompe Disease
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Cognitive and Neurological Pathologies in Pompe Disease
NCT04639336
Recruiting
The purpose of this study is to better understand the long-term health effects of Pompe disease and to determine if there are any abnormal changes in the brain and peripheral nerves. Additionally, the investigators will study the relationship between the abnormal changes in brain, nervous system findings, and developmental outcomes. The investigators will collect clinical information from clinic visits as well as assessments such as neuroimaging (magnetic resonance imaging (MRI), magnetic reson... Read More
Gender:
ALL
Ages:
Between 0 years and 18 years
Trial Updated:
04/15/2025
Locations: Duke University Medical Center, Durham, North Carolina
Conditions: Pompe Disease
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FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
NCT06539169
Recruiting
FLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases. Patients participate in the study by electronic consent (eConsent) and sign a medical records release to permit data collection. Medical records are accessed from institutions directly via eFax or paper fax, online from patient electronic medical record (EMR) portals, direct from DNA/RNA sequencing and molecular profiling vendors, and via elect... Read More
Gender:
ALL
Ages:
All
Trial Updated:
11/12/2024
Locations: xCures, Los Altos, California
Conditions: Alpha-Thalassemia, Beta-Thalassemia, Amyloidosis, Amyotrophic Lateral Sclerosis, Creutzfeld-Jakob Disease, Cystic Fibrosis, Duchenne Muscular Dystrophy, Early-Onset Alzheimer Disease, Ehlers-Danlos Syndrome, Huntington Disease, Gaucher Disease, GM1 Gangliosidosis, Myasthenia Gravis, Pompe Disease, Sickle Cell Disease, Transthyretin Amyloid Cardiomyopathy, Rare Diseases
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Avalglucosidase Alfa Pregnancy Study
NCT05734521
Recruiting
This is a worldwide, descriptive safety study collecting data on women and their offspring exposed to avalglucosidase alfa during pregnancy and/or lactation, to assess the risks of avalglucsodiase alfa on pregnancy and maternal complications and adverse effects in the developing fetus, neonate, and infant. * Outcomes in exposed infants, including growth and development, will be assessed through at least the first year of life. * Data will be collected for approximately 10 years.
Gender:
FEMALE
Ages:
All
Trial Updated:
07/12/2024
Locations: Investigational site worldwide, Bridgewater, New Jersey
Conditions: Pompe Disease, Pregnancy
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