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
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
  • 22 Jul, 2022
  • 1 location
A Long-term Study for the Outcome of Pompe Disease

Prospectively follow patients with Pompe disease underwent enzyme replacement therapy.

replacement therapy
  • 10 views
  • 21 Jan, 2021
Pompe Pregnancy Sub-Registry

pregnancy outcomes, including complications and infant growth, in all women with Pompe disease during pregnancy, regardless of whether they receive disease-specific therapy, such as ERT with alglucosidase

alglucosidase alfa
  • 84 views
  • 23 Jan, 2022
  • 14 locations
Pompe Pregnancy Sub-Registry

pregnancy outcomes, including complications and infant growth, in all women with Pompe disease during pregnancy, regardless of whether they receive disease-specific therapy, such as ERT with alglucosidase

alglucosidase alfa
  • 0 views
  • 23 Jan, 2022
  • 14 locations
Determination of 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

alglucosidase alfa
immunosuppressive
lumizyme
mutation analysis
gaa gene
  • 17 views
  • 01 Oct, 2021
  • 1 location
Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Center (CERCA)

Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase. This enzyme deficiency leads to glycogen overload in all

replacement therapy
deficiency
  • 0 views
  • 03 Nov, 2021
  • 1 location
A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting (HomERT)

Primary objective: To obtain data pertaining to the safety and tolerability of alglucosidase alfa and laronidase treatments administered in a home-care infusion setting. Secondary objectives: To evaluate personal satisfaction of both cohorts of patients treated in a home-care infusion setting. To evaluate the infusion compliance in both cohorts of patients …

myozyme
alglucosidase alfa
alpha-glucosidase
deficiency
  • 0 views
  • 23 May, 2022
  • 1 location
A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting (HomERT)

Primary objective: To obtain data pertaining to the safety and tolerability of alglucosidase alfa and laronidase treatments administered in a home-care infusion setting. Secondary objectives: To evaluate personal satisfaction of both cohorts of patients treated in a home-care infusion setting. To evaluate the infusion compliance in both cohorts of patients …

myozyme
alpha-glucosidase
alglucosidase alfa
deficiency
  • 0 views
  • 13 May, 2022
  • 1 location
Musculoskeletal Nociceptive Pain in Participants With Neuromuscular Disorders

, including patients with the following neuromuscular disorders: histologically confirmed inclusion body myositis (IBM), genetically confirmed late-onset Pompe disease (LOPD), genetically confirmed spinal

dyspnea
exercise tests
  • 0 views
  • 18 Jun, 2021
  • 1 location
Pivotal 2 Study of RGX-314 Gene Therapy in Participants With nAMD (ASCENT)

RGX-314 is being developed as a novel one-time gene therapy for the treatment of neovascular (wet) age-related macular degeneration (wet AMD). Wet AMD is characterized by loss of vision due to new, leaky blood vessel formation in the retina. Wet AMD is a significant cause of vision loss in the …

  • 0 views
  • 18 Jun, 2022
  • 12 locations