Fabry Disease Clinical Trials
43 recruiting trials for Fabry Disease. Eligibility criteria explained in plain English.
Recruiting Trials
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance...
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies. These are uncommon conditions...
the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease
The overall objective of this study is to investigate Fabry-related cardiomyopathy and the use of native T1-mapping, coronary microvascular function, cardiac inflammation, and...
A Study of Agalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry Disease
Fabry Disease is a rare blood disorder that some people are born with. People with Fabry disease have low levels of an enzyme called alpha-galactosidase A. This enzyme helps to...
T1 Mapping in Fabry Disease
Fabry disease (OMIM-301500, FD) is a lysosomal storage disease with X-linked inheritance secondary to mutations in the α-galactosidase A gene (GLA), which cause absence or...
A proof-of Concept Study to Assess Safety and Tolerability of HM15421/GC1134A in Patients With Fabry Disease
This Phase 1/2 first-in-human (FIH) study is designed to evaluate the safety, tolerability, pharmacokinetics (PK), and efficacy of HM15421 in patients with FD.
A Study of Replagal in Children and Adults With Fabry Disease in India
The main aim of this study is to learn more about the safety profile of Replagal. Participants will receive Replagal every 2 weeks at the clinic for about 1 year.
Canadian Fabry Disease Initiative (CFDI) National Registry
CFDI NATIONAL REGISTRY Fabry disease is a rare, inherited, genetic condition due to a deficiency of an enzyme called alpha-galactosidase A. This enzyme deficiency causes the...
Evaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease
Objective: To explore the safety and tolerability of different doses of EXG110 with Fabre disease
Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients...
Non-ischemic cardiomyopathies (NICM) represent a heterogeneous group of pathologies characterized by absence of obstructive disease of the epicardial coronary vessels and distinct...
Fabry Disease Registry & Pregnancy Sub-registry
The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease,...
Study of the Safety and Biologic Activity of AL01211 in Treatment Naive Males With Classic Fabry Disease
This is a Phase II, open-label study designed to evaluate the safety, tolerability, PK, PD, and preliminary efficacy of AL01211 in male subjects with classic Fabry disease who...
4D-310 in Adults With Fabry Disease and Cardiac Involvement
This is a prospective multicenter, open-label, dose-escalation trial to assess the safety, tolerability, and pharmacodynamics of 4D-310 following a single IV administration. The...
Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study
This study aims to gain a deeper understanding of endothelial dysfunction in patients with Fabry disease through a prospective study of the retinal microvasculature and to...
Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women...
The goal of this observational registry is to evaluate the safety and outcomes of pregnancy and lactation in women with Fabry disease who are exposed to pegunigalsidase alfa...
RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular...
Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined...
Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI
This study will evaluate whether cardiac MRI T1 and T2 mapping improves our ability to detect early abnormalities in the heart in patients with Fabry disease and identify patients...
Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease
This is a single-arm, open label, single-dose clinical study to evaluate the safety, tolerability and efficacy of BBM-F101 injection in the pediatric Fabry disease participants up...
Molecular Imaging in Fabry Disease of the Heart
Better methods for early detection of cardiac involvement in Fabry disease are needed to inform clinical management decisions that can help prevent or slow the progression of...
Italian Anderson Fabry Disease Cardiovascular Registry
The RICMAF Study is an observational, multicenter, non-pharmacological study conducted in Italy. Although Anderson-Fabry Disease (AFD) is rare, it is likely underdiagnosed due to...
Taiwan Associated Genetic and Nongenetic Small Vessel Disease
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)...
Evaluate the Safety and Efficacy of Fabagal® (Agalsidase Beta) in Patients With Fabry Disease
Evaluate the safety and efficacy of Fabagal® developed by ISU ABXIS Co., Ltd., which has similar efficacy to active comparator (Agalsidase beta).
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.
Long Duration Holter ECG in Fabry Disease
The main objective is to assess the occurrence of cardiac arrhythmias and conduction disorders during a three-year follow-up using implantable Holter ECG monitoring in 40 patients...
Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study
This is a prospective observational study. All patients will initiate and maintain treatment with agalsidase alfa during the study period. All patients will receive a full...
Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene. It is...
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...
Functional Capacity in Anderson-Fabry Disease Patients
The goal of this observational study is to observe the relation between excercise parameters - assessed by CPET - and rest/stress hemodynamic parameters - assessed by...
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
Fabry disease is a rare genetic disorder affecting 1 in 10,000 individuals, leading to complications such as chronic pain, heart and kidney failure, and strokes, ultimately...
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
An open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric subjects 2 to \< 12 years of age with...
Study to Evaluate the Safety, PK, PD, and Efficacy of PRX-102 in Japanese Patients With Fabry Disease
The aim of this study is to evaluate the safety and efficacy of pegunigalsidase alfa in Japanese patients (adults and adolescents) affected by Fabry disease. It is planned of a...
Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY Disease
The overall objective of this study is to investigate Fabry-associated renal organ involvement by using a novel magnetic resonance imaging (MRI) approach, focusing on changes in...
Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry...
The investigators will perform a study with two major components. The first is a natural history study of untreated Fabry patients. This study component will detail kidney...
Evaluation of a Screening Strategy of Fabry Disease in Patient With Renal Biopsy
Fabry disease is genetic X linked disease, with annual incidence of 1 in 100,000 that is certainly underestimate the true prevalence of the disease. Renal biopsy in some patients...
German Observational Multicenter Study of Patients With Fabry Disease Under Enzyme Replacement Therapy With...
Pegunigalsidase-alfa may represent an advance in ERT for FD, based on its unique pharmacokinetics and apparent low immunogenicity. The objective of the study is to document long...
Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease
The main goals of this clinical study are to characterize safety and PK/PD of AMT-191 i.e. if drug doses used in the study are safe and tolerable and to understand how it acts in...
Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes
This observational study aims to evaluate myocardial perfusion abnormalities using quantitative and qualitative cardiac magnetic resonance (CMR) perfusion imaging in patients with...
A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and...
This is a global prospective observational study of women with Fabry disease and their infants during pregnancy and/or breastfeeding. The study will evaluate outcomes of pregnancy...
Evaluation of HEArt invoLvement in Patients With FABRY Disease
This study evaluates predictors for the incidence of arrhythmias and sudden cardiac death as well as terminal heart failure in patients with Fabry disease.
A Multi-Country Observational Study of Safety and Effectiveness of Elfabrio® in Fabry Patients
A multi-centre, multi-country, observational, non-interventional, retrospective and prospective (hybrid) study among Fabry disease participants treated with pegunigalsidase alfa...
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research...
Cardiovascular Multimodality Imaging Study
Determining the etiology of cardiomyopathy is of high clinical importance for optimal treatment strategy and prediction of prognosis. There is increased risk for cardiovascular...
CVI Alterations in FD: a Prospective, Multicenter, Observational Cohort Study
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (GLA) gene mutations leading to reduced or undetectable α galactosidase A (α-Gal A)...
A Study of Patients With Fabry Disease (US Specific)
This is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (HRQOL) in patients with Fabry disease,...