Clinical trials: Fabry's Disease
Fabry's Disease
Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)
The purpose of this study is to evaluate the impact of ERT on LV diastolic function and flow in patients with Fabry's cardiomyopathy using diastolic stress echocardiography, LV vortex flow and CMR.
- Trial name
- NCT02469181
- Where
- South Korea
- Volunteers
- 20 people
- Sponsor
- Yonsei University
Fabry Disease
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 its nonspecific symptoms, leading to delays in…
- Trial name
- RICMAF (NCT06806813)
- Where
- 54 sites in Italy
- Volunteers
- 800 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Fabry Disease
A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease
This is a multi-center, open label, phase IV study conducted to evaluate the efficacy and safety of agalsidase beta (Fabrazyme [recombinant form]) administered by intravenous drip infusion in participants with cardiac Fabry…
- Trial name
- NCT00140621
- Testing
- Agalsidase beta
- Where
- 7 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Androgenetic Alopecia in Fabry Disease
The purpose of this study is to assess whether patients with the classic form of Fabry disease have significantly less androgenic alopecia (male pattern baldness).
- Trial name
- NCT01295008
- Where
- United States
- Volunteers
- 107 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
Fabry Disease
Prevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber Neuropathy
FD is pan-ethnic. Its reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Indeed, recently, in addition with affected males FD developing a "classic" phenotype, " cardiac variant " and…
- Trial name
- FABRY (NCT03230149)
- Testing
- Measurements of the alpha-GAL enzyme activity
- Where
- France
- Volunteers
- 379 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fabry Disease
A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease
An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Subjects with Fabry Disease and Amenable GLA Variants and Severe Renal Impairment (SRI) or End Stage Renal Disease (ESRD)
- Trial name
- NCT04020055
- Testing
- migalastat HCl 150 mg
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 14 people
- Sponsor
- Amicus Therapeutics
Fabry Disease
Diagnostic Role of Renal Biopsy in Patients With Fabry Disease
This is a retrospective, single-centre, non-pharmacological observational study carried out for scientific and health protection purposes.
- Trial name
- FABRY-SS-21 (NCT06801288)
- Where
- Italy
- Volunteers
- 80 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Fabry Disease
German Observational Multicenter Study of Patients With Fabry Disease Under Enzyme Replacement Therapy With Pegunigalsidase-alfa
Pegunigalsidase-alfa may represent an advance in ERT for FD, based on its unique pharmacokinetics and apparent low immunogenicity.
- Trial name
- GoPEG (NCT06095713)
- Testing
- Pegunigalsidase-alfa
- Where
- 8 sites in Germany
- Volunteers
- 60 people
- Sponsor
- Universität Münster
Fabry Disease
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 at increase risk of adverse events.
- Trial name
- FIESTA-MRI (NCT04856059)
- Testing
- Cardiac MRI, ECG/Holter and Blood Biomarkers
- Where
- Canada
- Volunteers
- 300 people
- Sponsor
- University Health Network, Toronto
Cerebral Small Vessel Diseases, Cadasil
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) with probes designed to target five candidate CSVD…
- Conditions
- Cerebral Small Vessel Diseases, Cadasil, HTRA1-Related Autosomal Dominant Cerebral Angiopathy, COL4A1-Related Brain Small Vessel Disease With Haemorrhage
- Trial name
- TAG-SVD (NCT05473637)
- Testing
- MRI
- Where
- Taiwan
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Fabry Disease
Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)
This was an open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric participants 12 to <18 years of age with Fabry disease and amenable gene…
- Trial name
- NCT03500094
- Testing
- Migalastat HCl 150 mg
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 22 people
- Sponsor
- Amicus Therapeutics
Fabry Disease, Endothelial Dysfunction
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 identify an objective, non-invasive marker to assess…
- Conditions
- Fabry Disease, Endothelial Dysfunction, Microvasculature
- Trial name
- VASCinFABRY (NCT06758648)
- Testing
- Dynamic retinal vessel analysis (DVA), Biochemistry and immune phenotyping, Questionnaires (Patient reported outcomes)
- Where
- Germany
- Volunteers
- 63 people
- Sponsor
- Technical University of Munich
Fabry Disease
Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease
When to start children with Fabry disease on therapy is controversial because of its expense and inconvenience. Many Fabry children complain of exercise intolerance.
- Trial name
- NCT01304875
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Cedars-Sinai Medical Center
Left Ventricular Hypertrophy
Multi-Modality Echocardiographic Techniques in Pathological Left Ventricular Hypertrophy Adults
This multicenter clinical study aims to evaluate the multi-modality echocardiographic parameters in patients with different pathological left ventricular hypertrophy (LVH) and investigate the correlation between echocardiographic…
- Trial name
- MET-LVH (NCT05719337)
- Testing
- Echocardiography
- Where
- 22 sites in China
- Volunteers
- 660 people
- Sponsor
- First Hospital of China Medical University
Healthy Individuals, Diabetes
Heidelberg In Vivo Confocal Microscopy to Evaluate the Ocular Surface Disorders of Healthy and Diseased Individuals
In vivo confocal microscopy (IVCM) has been used in clinical settings for more than 25 years, and is noninvasive, rapid and easily repeatable technique to investigate ocular surface disorders.
- Conditions
- Healthy Individuals, Diabetes, Hypertension, Fabry Disease
- Trial name
- NCT04025801
- Where
- Taiwan
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Fabry Disease
Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity
This study will collect data needed to design a treatment trial for patients with Fabry disease using the experimental drug AT-1001.
- Trial name
- NCT00106912
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Fabry Disease
A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers
The purpose of this study is to evaluate the safety, tolerability, and pharmacokinetics of IV migalastat HCl alone and to determine absolute bioavailability for oral migalastat HCl as compared to IV administered migalastat HCl in…
- Trial name
- NCT02082327
- Testing
- IV migalastat HCl, oral migalastat HCl
- Where
- Netherlands
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Fabry Disease
Study Based on Electronic Health RecOrds to Identify Patients at High-risk of Fabry DiseasE (HOPE Fabry)
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…
- Trial name
- NCT05671770
- Where
- United Arab Emirates
- Volunteers
- 15 people
- Sponsor
- Sanofi
Cerebrovascular Accident, Stroke, Acute
Fabry and Stroke Epidemiological Protocol (FASEP): Risk Factors In Ischemic Stroke Patients With Fabry Disease
More than one million people in Europe suffer from a stroke every day. Normally older people have a stroke, but also a significant number of younger people between 18 and 55 years.
- Conditions
- Cerebrovascular Accident, Stroke, Acute, Cerebral Stroke
- Trial name
- FASEP (NCT01182818)
- Where
- 14 sites in Germany, Poland
- Volunteers
- 1,000 people
- Sponsor
- University of Rostock
Fabry Disease
Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
In Portugal, the prevalence of Fabry disease is largely unknown as recently has been stressed by the Portuguese hypertrophic cardiomyopathy registry investigators.
- Trial name
- F-CHECK (NCT05409846)
- Testing
- Alfa-galactosidase activity and genetic testing for Fabry diagnosis
- Where
- 11 sites in Portugal
- Volunteers
- 409 people
- Sponsor
- Universidade do Porto