Active clinical trials for "Fabry Disease"

This is an observational study. No treatment or intervention will be assigned to the subjects. All patients will receive full standard of care concomitant medication for the treatment of their cardiac condition. 20 patients with genetically confirmed Anderson-Fabry disease who have a plan to start Migalastat will undergo 2D strain, diastolic stress echocardiography, LV vortex flow analysis, and CMR at baseline and after 2 year of treatment with Migalastat for follow-up.

Study Design: This is an observational study. No treatment or intervention will be assigned to the subjects. All patients will receive full standard of care concomitant medication for the treatment of their cardiac condition. 25 patients with genetically confirmed Anderson-Fabry disease who have a plan to start ERT with Agalsidase Alfa will undergo 2D strain, diastolic stress echocardiography, LV vortex flow analysis, and CMR at baseline and after 1 year of treatment with ERT with Agalsidase Alfa for follow-up.

This is a national, multicenter, observational, cohort study designed to assess clinical outcomes upon agalsidase beta treatment, to characterize the clinical manifestations, and to collect the natural history on male and female Fabry disease adult patients who carry the GLA IVS4. This study aims to retrospectively and prospectively investigate the disease natural history, clinical manifestations, and the treatment outcomes upon agalsidase beta in Fabry disease (FD) patients carrying the GLA IVS4 mutation from medical records, physician assessments, and patient-reported outcomes.

The goal of this observational study is to understand the immune response in Fabry disease (FD). We want to find out how the immune response is related to the severity of FD and how it affects patients' quality of life and pain. Main Questions the Study Aims to Answer: How are immune response markers linked to the health of FD patients? How is the immune response different between FD patients and healthy individuals? Participants: We will include 20 patients who have FD and are older than 18, and do not have other autoimmune or autoinflammatory diseases. We'll also include a comparison group of the same size who don't have FD, but are similar in age and sex to the FD group. Participants with Fabry disease will be asked about their medical history and complete questionnaires. We will measure their vital signs and collect blood samples to study immune response markers. We'll also look at specific biomarkers related to FD. Healthy participants will do similar tasks for comparison. Comparison: Researchers will compare the immune response markers and other measurements between FD patients and healthy individuals to understand the differences and similarities. Duration: The study will take place over 18 months to gather comprehensive information.

Background It is necessary to find out the difficulties experienced by patients with Fabry disease and their families, and to seek solutions for them. For this purpose, qualitative research with a patient-centered approach is useful. Objectives The Objective of this study is to understand the various difficulties of patients with Fabry disease and to help them establish a comprehensive support system, medical, health, and welfare service system, and develop the direction and components of social and educational programs. Methods The subjects of this study are patients who have been diagnosed with Fabry disease, and among them, are selected considering the selection and exclusion criteria, confirm consent for participation in the study after sufficient explanation, and then enroll. The target number of subjects is 10 people. Subjects who consented to the study had an in-depth interview centered on the in-depth interview questionnaire through the HA Research Institute, a specialized institution. The principle of saturation is observed by conducting 3 interviews per research subject. The duration of each interview per research subject is 50 to 60 minutes. All dictations of the research subjects were recorded with prior consent and then transcribed into a written copy. For 3 interviews, the number of interviews can be reduced to 1 or 2 by extending the interview time according to the research subject's request. As for the place of interview, the research counseling room at Severance Cardiovascular Hospital or the in-depth interview room in the HA Research Institute can be used, and the interview can be conducted at other places desired by the research subject at the request of the research subject.

The purpose of this research is to collect biological samples (urine) to develop assays for immune biomarkers to possibly in the future be able to screen subjects with Fabry disease and be able to understand better progression of nephropathy in Fabry disease and predict nephropathy in Fabry disease.

Primary objective: To estimate the prevalence of patients who are at high-risk for Fabry Disease (FD) in the Cleveland Clinic, Abu Dhabi (CCAD) United Arab Emirates (EMR) database from May 2016 to May 2022, according to the predictive algorithm (i.e., feasibility assessment eligibility criteria) Secondary objectives: To estimate the prevalence of FD among patients at high-risk for FD (i.e., among enrolled patients) To characterize the patient profile, overall and in Cohorts 1 and 2 To describe the most common characteristics among positive FD patients and negative FD patients

The TAG-SVD enrolled patients with clinical and neuroimaging features of cerebral small vessel disease (CSVD). All enrolled patients will receive next-generation sequence (NGS) with probes designed to target five candidate CSVD genes, and patients will be divided into genetic or non-genetic groups accordingly. Their clinical features and outcome will be followed for at least 2 years.

This study evaluates adherence to the oral chaperone therapy migalastat in patients with Fabry disease.

The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.