Clinical trials: Anderson Fabry Disease
Fabry Disease, Lysosomal Storage Diseases
A Fabry Disease Gene Therapy Study
This is a multinational, open-label study to assess the safety and efficacy of FLT190 in up to 15 adult male participants with classical Fabry disease.
- Trial name
- MARVEL1 (NCT04040049)
- Testing
- FLT190
- Where
- 13 sites in United States, Austria and 5 more
- Volunteers
- 3 people
- Sponsor
- Spur Therapeutics
Fabry Disease
Screening of Fabry Disease in Patients With GI Symptoms
Fabry disease screening study in patients diagnosed with gastrointestinal tract (GIT) disease, i.e. with the diagnosis of non-infectious inflammatory bowel disease, functional dyspepsia or irritable bowel syndrome in particular…
- Trial name
- GiFD (NCT04184986)
- Testing
- dry blood test
- Where
- Czechia
- Volunteers
- 200 people
- Sponsor
- General University Hospital, Prague
Metabolic Disease, Fabry Disease
Getting Global Rare Disease Insights Through Technology Study
This project is a randomized controlled trial to use a mobile health journal, called Zamplo (formerly known as MyHealthJournal or ZoeInsights), to record patient reported outcomes (PROM) in patients with metabolic disorders.
- Conditions
- Metabolic Disease, Fabry Disease, Gaucher Disease, Pompe Disease
- Trial name
- GRIT (NCT04758130)
- Testing
- Zamplo Digital Health Platform
- Where
- Canada
- Volunteers
- 150 people
- Sponsor
- M.A.G.I.C. Clinic LTD
Angiokeratomas, Chronic Kidney Disease
Biomarker for Patients With Fabry Disease (BioFabry)
Development of a new mass spectrography-based biomarker for the early and sensitive diagnosis of Fabry disease from the blood
- Conditions
- Angiokeratomas, Chronic Kidney Disease, Ocular Abnormalities, Hearing Loss
- Trial name
- BioFabry (NCT02778295)
- Where
- 3 sites in Germany, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.
- Trial name
- NCT00837824
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Gaucher's Disease
Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells
Gaucher's disease is a lysosomal storage disease resulting from glycocerebroside GLUCOCEREBROSIDE (1) accumulation in macrophages due to a genetic deficiency of the enzyme glucocerebrosidase. It may occur in patients of all ages.
- Trial name
- NCT00001234
- Testing
- human glucocerebrosidase cDNA
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Fabry Disease
Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease
The objective of CLI-06657AA1-04 (formerly PB-102-F60) was to evaluate the long-term safety, tolerability, and efficacy parameters of 1 mg/kg pegunigalsidase alfa administered intravenously every other week in adult Fabry…
- Trial name
- NCT03566017
- Testing
- pegunigalsidase alfa
- Where
- 30 sites in United States, Australia and 11 more
- Volunteers
- 97 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Fabry Disease
Anderson-Fabry Disease Fitness Improvement Training
This study will evaluate physical function, cardiorespiratory fitness, muscle strength, and quality of life in patients with Fabry disease and assess the effects of a 12-week physiotherapy-led exercise programme.
- Trial name
- A-FAD-FIT (NCT07495410)
- Testing
- Physiotherapy exercise programe
- Where
- Czechia
- Volunteers
- 50 people
- Sponsor
- General University Hospital, Prague
Fabry Disease
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.
- Trial name
- NCT05698901
- Testing
- Agalsidase beta
- Where
- Taiwan
- Volunteers
- 150 people
- Sponsor
- Mackay Memorial Hospital
Fabry Disease
Pulmonary Involvement in Patients With Fabry Disease
The objective of this study is to investigate whether Agalsidase alpha, a drug commonly prescribed in patients with Fabry disease, is associated with improvement of the pulmonary involvement.
- Trial name
- NCT01632111
- Testing
- Lung function measurement
- Where
- Switzerland
- Volunteers
- 110 people
- Sponsor
- University of Zurich
Fabry Disease
A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease
A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease. This study includes a sub-study evaluating kidney Gb3 inclusions (and other histologic lesions) in male…
- Trial name
- NCT03737214
- Testing
- Lucerastat
- Where
- 42 sites in United States, Australia and 11 more
- Volunteers
- 107 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
Left Ventricular Hypertrophy
Belgian Screening Project for the Detection of Anderson-Fabry Disease in Hypertrophic Cardiomyopathy
The purpose of this study is to determine the prevalence of Fabry mutations in patients with left ventricular hypertrophy (moderate to severe), as measured by echocardiography.This study is a screening study
- Trial name
- NCT01198899
- Testing
- blood sampling
- Where
- 9 sites in Belgium
- Volunteers
- 540 people
- Sponsor
- University Hospital, Ghent
Fabry Disease, Gaucher Disease
Complement Activation in the Lysosomal Storage Disorders
The lysosomal storage disorders (LSDs) are monogenic disorders associated with inflammation affecting multiple organs, and early death.
- Conditions
- Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Type C, Lysosomal Storage Diseases
- Trial name
- CATALYST (NCT04189601)
- Testing
- Complement measurements
- Where
- Australia
- Volunteers
- healthy volunteers welcome
- Sponsor
- Melbourne Health
Fabry Disease
Fabry Aim Children Early (ACE) Project
The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms.
- Trial name
- NCT04965467
- Testing
- Screening for Fabry disease
- Where
- 21 sites in China
- Sponsor
- Children's Hospital of Fudan University
Fabry Disease
Characterisation of Heart Involvement in Fabry Disease With T1 Mapping
Fabry disease is a rare lysosomal storage disorder characterised by a genetic deficiency in the α-galactosidase enzyme. This deficiency leads to a progressive accumulation of a fatty substance, called glycosphingolipids within a…
- Trial name
- T1 (NCT04708301)
- Testing
- T1 mapping
- Where
- United Kingdom
- Volunteers
- 200 people
- Sponsor
- Manchester University NHS Foundation Trust
Fabry Disease, Left Ventricular Hypertrophy
Viennese Prevalence Study of Anderson-Fabry Disease
The prevalence of Anderson - Fabry disease in patients with left ventricular hypertrophy is unclear. The investigators will examine urine - α - Galactosidase activity and globotriaosylceramide isoforms in these patients.
- Trial name
- VIEPAF (NCT00871611)
- Where
- Austria
- Volunteers
- 4,000 people
- Sponsor
- Medical University of Vienna
Fabry Disease
Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease
Primary Objective: To assess the long-term safety of GZ/SAR402671 in adult male participants with Fabry disease who previously completed study ACT13739 (NCT02489344).
- Trial name
- NCT02489344
- Testing
- GZ/SAR402671
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 8 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease, Alpha Galactosidase A Deficiency
Study of the Effects of Fabrazyme Treatment on Lactation and Infants
The study was planned for up to 2 years (24 months). Planned full participation for both mother and infant was 24 months, planned full participation of mother and development of infant was 24 months, while planned full…
- Trial name
- NCT00230607
- Testing
- agalsidase beta
- Where
- 5 sites in United States, Austria and 1 more
- Volunteers
- 7 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Evaluation of the Effect of a Low-FODMAP Diet on Gastrointestinal Symptoms and Inflammatory Markers in Fabry Patients
The aim of this randomized controlled study is to evaluate the effects of a six-week low-fermentable oligosaccharides, disaccharides, monosaccharides, and polyols (FODMAP) diet on gastrointestinal symptoms, inflammatory…
- Trial name
- FODMAPFABRY (NCT07888998)
- Testing
- Low-FODMAP Diet
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people
- Sponsor
- Acibadem University
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital