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
A Study to Investigate Safety, Tolerability, Pharmacokinetics (PK), Pharmacodynamics (PD), and Immunogenicity of RO7669330 in Participants With Geographic Atrophy (GA) Secondary to Age-related Macular Degeneration (AMD)
The main purpose of this study is to assess the ocular and systemic safety and tolerability of RO7669330 in GA secondary to AMD after multiple unilateral intravitreal (IVT) doses.
In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases
The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.
Natural History of Pompe Disease
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 natural history using clinical, imaging, histological and molecular parameters. Secondary objectives are: To identify biomarkers for assessing efficacy of future …
Pompe Pregnancy Sub-Registry
This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Pompe Registry, regardless of whether she is receiving disease-specific therapy (such as ERT with alglucosidase alfa or avalglucosidase alfa) and irrespective of the commercial product with which …
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 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, …
A Global Prospective Observational Registry of Patients With Pompe Disease
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 …
FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
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 …
Project AMD: Comprehensive Characterisation of Age-Related Macular Degeneration and Its Progression
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) …
Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation
The study aims to identify new diagnostic and prognostic markers for CMP that can help predict disease progression. In particular, the study will focus on microRNAs (miRNAs) and spatial transcriptomics, which are emerging techniques that may provide insights into the underlying disease mechanisms. By understanding these markers, the investigators hope …
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures …