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 41 clinical trials
Assessment of Safety and Acute Effects of a Knee-hip Powered Soft Exoskeleton in Patients With Neuromuscular Disorders (Exo-NMD1)

The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a powered knee-hip dermoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland) in patients with neuromuscular disorders, ii) Elaborate recommendations regarding usability criteria for safe and efficient use the device in patients with neuromuscular disorders (e.g. …

Accepts healthy volunteers
myopathy
respiratory assessment
  • 0 views
  • 25 Mar, 2022
  • 1 location
Exercise Capacity in Response to Enzyme Replacement Therapy in Pediatric Pompe Disease.

Our aims are to investigate the acute and long term effect of ERT on exercise capacity; comparing the effect of different ERT dosages (as prescribed by the clinician according to clinical judgment) and assessing the relationship between enzyme blood level and exercise capacity. Such evaluation may allow a more objective …

  • 0 views
  • 24 Feb, 2021
  • 1 location
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

deficiency
gaa gene
alglucosidase alfa
  • 0 views
  • 24 Jun, 2022
  • 252 locations
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

deficiency
myozyme
alglucosidase alfa
gaa gene
replacement therapy
  • 385 views
  • 10 Jul, 2022
  • 252 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 …

deficiency
myozyme
alglucosidase alfa
assisted ventilation
replacement therapy
  • 0 views
  • 20 May, 2022
  • 9 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 …

deficiency
myozyme
alglucosidase alfa
assisted ventilation
replacement therapy
  • 0 views
  • 24 May, 2022
  • 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 prospective, observational study that seeks to to understand the underlying aetiology of AMD, factors associated with differences between age-related macular degeneration (AMD) …

Accepts healthy volunteers
  • 7 views
  • 08 Aug, 2022
  • 1 location
Cell Collection to Study Eye Diseases

Background Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, and blood can be …

eye exam
Accepts healthy volunteers
atrophy
age-related macular degeneration
anophthalmia
  • 302 views
  • 27 Jul, 2022
  • 1 location
Natural History of Pompe Disease (POMPE)

The project is a prospective study in which patients affected by adult-onset Pompe disease with c.-32-13T>G mutation in the GAA gene will be followed-up during two years to describe the

gaa gene
walk test
  • 6 views
  • 02 May, 2022
  • 1 location
Clinical Specimen Collection From Pompe Disease Patients

Clinical specimens are required from individuals with Pompe Disease to support process and analytical development for a genetically modified autologous bone marrow cell product currently in

gene therapy
  • 0 views
  • 03 Jun, 2022
  • 1 location