Clinical trials: Fabry's Disease
Anderson-Fabry Disease
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 echocardiogram and CMR - in patients with a genetic diagnosis…
- Trial name
- OPTIMA-FD (NCT06884358)
- Where
- 5 sites in Italy
- Volunteers
- 100 people
- Sponsor
- IRCCS Policlinico S. Donato
Fabry Disease
Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy
In patients with Fabry disease, this research study explores the presence of podocytes in their urine as a potential non-invasive biomarker for baseline kidney disease; and explores changes in the quantity of podocytes in their…
- Trial name
- NCT02994303
- Where
- 3 sites in United States
- Volunteers
- 58 people
- Sponsor
- University of Washington
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
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's Disease
Analysis of the Nervous System in Patients With Fabry's Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme ceramidetrihexosidase. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls…
- Trial name
- NCT00001491
- Where
- United States
- Volunteers
- 325 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Fabry Disease
Lipidomics and Functional Analyses of Platelets in Fabry Disease
This study aims to evaluate whether platelets are biochemically and functionally altered in Fabry disease (FD) and therefore possibly implicated in FD manifestations such as cerebrovascular events.
- Trial name
- NCT02649660
- Where
- 2 sites in Switzerland
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Spital Linth
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Fabry Disease, Proteinuria
The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study
The primary hypothesis is that titration of ACE inhibitor and Angiotensin Receptor Blockers (ARBs)to reduce urine protein excretion to < 500 mg per day in Fabry Patients receiving agalsidase beta therapy at 1 mg/kg every two…
- Trial name
- FAACET (NCT00446862)
- Testing
- enalapril and other angiotensin converting enzyme inhibitors; losartan and other angiotensin receptor blockers
- Where
- 6 sites in United States, Slovenia
- Volunteers
- 36 people
- Sponsor
- University of Alabama at Birmingham
Fabry Disease
Impact of Agalsidase Alfa Therapy on Cardiac funcTION in Patients With Fabry's Cardiomyopathy
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.
- Trial name
- NCT03230591
- Testing
- Echocardiography
- Where
- South Korea
- Volunteers
- 25 people
- Sponsor
- Yonsei University
Fabry Disease
Care Pathway for Patients With Fabry's Disease (Fabry-PATH)
Fabry's disease is an X-linked disorder that manifests differently in men and women, leading to differences in healthcare pathways.
- Trial name
- Fabry-PATH (NCT07485660)
- Testing
- Self-questionnaire
- Where
- France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Toulouse
Fabry Disease, Anderson Fabry Disease
Treatment-related Benefit and Satisfaction in Fabry Patients. Insight in Patients Expectations and Preferences
In the shared decision-making process, patients should express their expectations and preferences regarding treatment to the physician.
- Trial name
- NCT04043273
- Testing
- Noninterventional characterization of patients expectations and preferences regarding their treatment
- Where
- 15 sites in France
- Volunteers
- 69 people
- Sponsor
- Amicus Therapeutics France SAS
Fabry Disease
Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study
The investigators will perform a study with two major components. The first is a natural history study of untreated Fabry patients.
- Trial name
- LDN6702 (NCT01581424)
- Where
- 2 sites in United States
- Volunteers
- 50 people
- Sponsor
- University of Minnesota
Fabry Disease
A Qualitative Study on the Pain and Quality of Life of Patients With Fabry Disease
Background It is necessary to find out the difficulties experienced by patients with Fabry disease and their families, and to seek solutions for them.
- Trial name
- NCT05679076
- Where
- South Korea
- Volunteers
- 10 people
- Sponsor
- Yonsei University
Fabry Disease
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 the body of people with Fabry disease.
- Trial name
- NCT06270316
- Testing
- AMT-191
- Where
- 10 sites in United States
- Volunteers
- 20 people
- Sponsor
- UniQure Biopharma B.V.
Fabry Disease
Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease
This study will evaluate safety and clinical outcomes of treatment with Replagal in adult participants with Fabry disease who have completed Study TKT028 (NCT00864851).
- Trial name
- NCT01124643
- Testing
- Replagal
- Where
- 9 sites in United States, Australia and 5 more
- Volunteers
- 35 people
- Sponsor
- Shire
Fabry Disease
Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study
Study to evaluate the long-term safety, tolerability, and pharmacodynamics (PD) of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease
- Trial name
- NCT00526071
- Testing
- migalastat HCl
- Where
- 8 sites in United States, Australia and 3 more
- Volunteers
- 23 people
- Sponsor
- Amicus Therapeutics
Fabry Disease
A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme.
- Trial name
- NCT00074971
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 20 sites in United States, France and 3 more
- Volunteers
- 58 people
- Sponsor
- Genzyme, a Sanofi Company
Lysosomal Storage Disorders
Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
The lysosome is a specialized part of the cell that functions to degrade metabolic wastes in the cell. Defects in the functioning of the lysosome result in accumulation and subsequent storage of such metabolic wastes.
- Trial name
- NCT02000310
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC
Fabry Disease
A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease
No investigational drug will be administered in this study for the treatment of Fabry disease. This will be a multicenter, multinational, non-treatment, cross-sectional study of young male patients with Fabry disease who have not…
- Trial name
- NCT01839526
- Testing
- Iohexol
- Where
- 22 sites in United States, Argentina and 12 more
- Volunteers
- 39 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry's Disease, Chronic Pain
Prevalence of Fabry's Disease in a Population of Patients With Chronic Pain
Fabry disease is a rare inherited metabolic disorder that predominantly affects heart, kidneys and nervous system. Fabry disease has been searched in series of patients presenting different isolated signs caused by the affection…
- Trial name
- DOUFABIS (NCT02450604)
- Testing
- Diagnosis of Fabry disease
- Where
- 21 sites in France
- Volunteers
- 776 people
- Sponsor
- University Hospital, Bordeaux