Pompe Disease Clinical Trials

A listing of Pompe Disease medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

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Found 56 clinical trials
Pompe Disease Registry Protocol

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

gaa gene
alglucosidase alfa
deficiency
  • 8 views
  • 26 Jan, 2023
  • 243 locations
A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)

Primary Objective: To describe the effect of routine practice with alglucosidase alfa in patients with IOPD ≤6 months of age, on invasive ventilation-free survival after 52 weeks of treatment. Secondary Objectives: To describe the effect of routine practice with alglucosidase alfa on invasive ventilation-free survival and survival at 12 and …

replacement therapy
alglucosidase alfa
assisted ventilation
myozyme
deficiency
  • 0 views
  • 26 Jan, 2023
  • 8 locations
Project AMD: Comprehensive Characterisation of Age-Related Macular Degeneration and Its Progression (Project AMD)

Age-related macular degeneration (AMD) is the leading cause of irreversible vision loss worldwide, and nearly two million Australians have some signs of AMD. This proposed project is a

Accepts healthy volunteers
macular degeneration
drusen
retinal diseases
  • 7 views
  • 04 Oct, 2022
  • 1 location
Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls

Background Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina

drusen
macular degeneration
eye disease
skin punch biopsy
retinal disease
  • 302 views
  • 27 Oct, 2022
  • 1 location
NEI Intramural Biorepository for Retinal Diseases

Background To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, …

retinal disease
Accepts healthy volunteers
eye disorder
eye exam
diabetic retinopathy
  • 111 views
  • 20 Oct, 2022
  • 1 location
Cognitive and Neurological Pathologies in Pompe Disease (CNS)

In this study, the investigators will collect clinical information as well as complete the following procedures to assess central nervous system (CNS) and peripheral nervous system (PNS) involvement: neuroimaging with MRI, MRS and DTI; quantitative muscle ultrasound, small fiber neuropathy screening list (SFNSL); cognition and developmental assessments including an audiological …

electromyogram
  • 0 views
  • 04 Oct, 2022
  • 1 location
Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease

-onset Pompe disease (LOPD). The secondary objectives are to evaluate whether muscle pain is associated with muscle function, to assess whether muscle pain is associated with alterations of muscle tissue

dyspnea
gaa gene
inclusion body myositis
vitamin
creatine kinase
  • 0 views
  • 04 Oct, 2022
  • 1 location
Pompe Lactation Sub-Registry

The objective is to determine if alglucosidase alfa is present in breast milk from mothers with Pompe Disease being treated with alglucosidase alfa and to measure breast milk production and

alglucosidase alfa
  • 25 views
  • 07 Oct, 2022
  • 1 location
AMD Ryan Initiative Study (ARIS)

Objective To learn more about AMD. Eligibility People ages 55 and older with any of the following: AMD or changes in

corrected visual acuity
optical coherence tomography
Accepts healthy volunteers
eye exam
drusen
  • 158 views
  • 04 Oct, 2022
  • 1 location
Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease

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

mutation analysis
immunosuppressive
lumizyme
alglucosidase alfa
gaa gene
  • 17 views
  • 25 Oct, 2022
  • 1 location