Clinical trials: Fabry Disease
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
Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)
Fabry disease is a rare, inherited condition that can affect multiple organs, including the heart, kidneys, and nervous system. Many people with Fabry disease live for a period of time without receiving disease-specific…
- Trial name
- QoLUF (NCT07560956)
- Testing
- Qualitative Interview
- Where
- Sweden
- Volunteers
- 35 people
- Sponsor
- Vastra Gotaland Region
Fabry Disease
Study of the Relation Between Lipid Myocardial Overload Evaluated by Cardiac Magnetic Resonance Imaging (MRI), Alteration of Longitudinal Myocardial Deformations by Echocardiography, and Clinical Achievements (Functional, Biological and Electrical) in Fabry Disease, and Its Outcomes.
Anderson-Fabry disease is a genetic lysosomal storage disease, linked to chromosome X (gene GLA), responsible of enzyme synthesis deficit in α-galactosidase A with intracellular sphingolipids accumulation and multiorganic…
- Trial name
- FABRY-Image (NCT03123523)
- Testing
- Echocardiography at T0, Exercise test, Biological assays
- Where
- France
- Volunteers
- 55 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Fabry Disease, Neuropathic Pain
Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease
The purpose of this study is to determine efficacy of gabapentin vs. placebo at controlling peripheral neuropathic pain in patients with Fabry disease, and reducing their use of opioid analgesics.
- Trial name
- NCT01588314
- Testing
- Gabapentin
- Where
- United States
- Sponsor
- University of Minnesota
Fabry Disease, Cardiac Variant
Natural History in Fabry Patients With IVS4+919G>A Mutation
Fabry disease is caused by the deficiency or absence of alpha-galactosidase A (α-Gal A) activity, leading to progressive deposition of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosomes of multiple tissues…
- Trial name
- NCT03222336
- Testing
- Family pedigree and data collection
- Volunteers
- 80 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
Fabry Disease
Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease
The objective was to determine the effects of a single dose of migalastat hydrochloride (HCl) (migalastat) 150 and 450 milligrams (mg) on the safety and plasma pharmacokinetics (PK) of agalsidase and the effects of agalsidase on…
- Trial name
- NCT01196871
- Testing
- Migalastat HCl, Agalsidase Beta, Agalsidase Alfa
- Where
- 10 sites in United States, Australia and 3 more
- Volunteers
- 20 people
- Sponsor
- Amicus Therapeutics
Fabry Disease
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.
- Trial name
- NCT05629559
- Testing
- 4D-310
- Where
- 4 sites in Australia, Taiwan
- Volunteers
- 18 people
- Sponsor
- 4D Molecular Therapeutics
Fabry Disease
Extension Study of PRX-102 for up to 60 Months
To evaluate the ongoing safety, tolerability, and efficacy parameters of PRX-102 in adult Fabry patients who have successfully completed treatment with PRX-102 in studies PB-102-F01 and PB-102-F02.
- Trial name
- NCT01981720
- Testing
- PRX-102 (pegunigalsidase alfa)
- Where
- 8 sites in United States, Paraguay and 2 more
- Volunteers
- 15 people
- Sponsor
- Protalix
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
Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks
This open-label switchover study will assess the safety, efficacy, and pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg administered every 4 weeks for 52 weeks in Fabry patients previously treated with ERT: agalsidase…
- Trial name
- BRIGHT (NCT03180840)
- Testing
- Pegunigalsidase alfa
- Where
- 14 sites in United States, Belgium and 5 more
- Volunteers
- 30 people
- Sponsor
- Protalix
Fabry Disease
Sleepiness and Sleep-disordered Breathing in Fabry Disease. A Prospective Cohort Study.
Prospective, observational cohort study to investigate the prevalence of sleepiness and sleep-related breathing disorders in patients with Fabry disease (FD).
- Trial name
- NCT01947634
- Testing
- ResMed Apnea Link plus
- Where
- Switzerland
- Volunteers
- 52 people
- Sponsor
- University of Zurich
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
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
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
Inflammatory Pathways and Cardiac Growth Factors Associated With Fabry Disease Cardiomyopathy
In Fabry disease (FD), α-galactosidase A deficiency leads to the accumulation of globotriaosylceramide (Lyso-Gb3 and Gb3), triggering a pathologic cascade that causes progressive damage to multiple organs, including the heart.
- Trial name
- NCT04724083
- Testing
- biomarkers
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
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 with Fabry disease.
- Trial name
- NCT04440254
- Testing
- Implantation (subcutaneous) of a marketed miniaturized Holter ECG recording device
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Fabry Disease
Dosing Study of Replagal in Patients With Fabry Disease
This study will determine the safety and effectiveness of increasing Replagal infusions in certain patients with Fabry disease. Replagal is a genetically engineered form of Alpha-galactosidase A, an enzyme that normally breaks…
- Trial name
- NCT00068107
- Testing
- Replagal
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- Baylor Research Institute
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
Fabry Disease
Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients
The objective of CLI-06657AA1-03 (formerly PB-102-F51) is to evaluate the long-term safety, tolerability, and efficacy of 2 mg/kg pegunigalsidase alfa administered intravenously every four weeks in adult Fabry patients who have…
- Trial name
- NCT03614234
- Testing
- pegunigalsidase alfa
- Where
- 14 sites in United States, Belgium and 5 more
- Volunteers
- 29 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
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