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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.

Found 51 clinical trials
J Janet Blount

Cognitive and Neurological Pathologies in Pompe Disease

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. …

- 18 years of age Both Phase N/A
A Ankit K Desai, MBBS

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, 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 …

- 100 years of age Both Phase N/A
Y Yin-Hsiu Chien, MD, PhD

A Long-term Study for the Outcome of Pompe Disease

Prospectively follow patients with Pompe disease underwent enzyme replacement therapy.

- 100 years of age Both Phase N/A

Avalglucosidase Alfa Pregnancy Study

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 …

- 100 years of age Female Phase N/A
S Stephan Wenninger, MD

Pompe & Pain - Study to Assess Nociceptive Pain in Adult Patients With Pompe Disease

The primary aim of this nationwide, explorative, cross-sectional study in Germany is to characterize the prevalence, severity and quality of musculoskeletal pain in adult patients with late-onset Pompe disease (LOPD). The secondary objectives are to evaluate whether muscle pain is associated with muscle function, to assess whether muscle pain is …

18 - 100 years of age Both Phase N/A
G George Pacheco, COA

OCT Angiography in Wet AMD

The primary goals of this study are to use optical coherence tomography (OCT) angiography (blood vessel mapping) to: diagnose the presence of new blood vessels in wet age-related macular degeneration (AMD) evaluate patients undergoing treatment for wet AMD determine if reduced flow to the choroid is a risk factor for …

50 - 100 years of age Both Phase N/A
C Ciro Costagliola, Director Of Ophthalmology Unit

Lutein by Scleral Iontophoresis in AMD

The objective of the clinical investigation is to evaluate the performance, safety and degree of tolerability resulting from the use of the iontophoresis medical device in adult subjects diagnosed with AMD stage 3 (AREDS classification) in one or both eyes.

55 - 100 years of age Both Phase N/A
E Eliana Costanzo, MD

Visual Rehabilitation and Depression in Visually Impaired Patients with AMD

Purpose: The aim of this study is to evaluate the impact of visual rehabilitation in visually impaired patients with advanced AMD by the use of questionnaires on the anxiety and depression status. Study design: prospective observational study. The study is carried out at the IRCCS Fondazione G.B.Bietti and at the …

55 - 100 years of age Both Phase N/A
Y Yann MAUCOURANT, MD

Multicenter Real-life Observational Study Switched Aflibercept or Ranibizumab to Faricimab in Patients With AMD.

Age-related macular degeneration (AMD) is a degenerative retinal disease. The prognosis of the exudative form was transformed by the introduction of the anti-VEGF monoclonal antibody treatments ranibizumab [1] and aflibercept [2] in the 2010s. In 2022, a new molecule, Faricimab, proved its efficacy in exudative AMD. It is a bi-specific …

18 - 100 years of age Both Phase N/A

Detection and Management of Sinusitis in a Single-center Prospective Cohort of Patients With Exudative AMD (SINE)

An inflammatory component associated with AMD has been highlighted by genetic associations of predisposition to AMD, as well as by the recently demonstrated link between AMD and periodontitis. Some patients followed at the Fondation Adolphe de Rothschild Hospital for wet AMD seemed to show an improvement of neovascular activity (less …

18 - 100 years of age Both Phase N/A

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