Clinical trials: Fabry Disease
Lysosomal Disease
A Study of Home vs Hospital Treatment in People With Fabry, Gaucher or Hunter Conditions in Mexico
During the COVID-19 pandemic, home treatment for conditions such as Fabry, Gaucher or Hunter became important because it is easier for people to stick to their treatment if medicines that need to be given as infusion (called…
- Trial name
- NCT07494058
- Testing
- No intervention
- Where
- Mexico
- Volunteers
- 232 people
- Sponsor
- Takeda
Fabry Disease
Replagal Enzyme Replacement Therapy for Adults With Fabry Disease
This study will determine the safety and effectiveness of the drug Replagal for treating people with Fabry disease, an inherited metabolic disorder.
- Trial name
- NCT00097890
- Testing
- Replagal (Agalsidase Alfa), Replagal
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Fabry Disesase
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.
- Trial name
- NCT06858397
- Testing
- HM15421/GC1134A
- Where
- 10 sites in United States, Argentina and 1 more
- Volunteers
- 18 people
- Sponsor
- GC Biopharma Corp
Fabry Disease
Autoimmune and Inflammatory Response Biomarkers in Fabry Disease
The goal of this observational study is to understand the immune response in Fabry disease (FD). We want to find out how the immune response is related to the severity of FD and how it affects patients' quality of life and pain.
- Trial name
- Bio-FAIR (NCT06007768)
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal
Fabry Disease, Nephropathy
Screening for Fabry Disease in Renal Transplantation
Single centre, prospective pilot study examining the relevance to screen for Fabry disease in a cohort of patients who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic…
- Trial name
- DEFYT (NCT03886714)
- Testing
- Screening for Fabry disease, Screen for α-galactosidase mutation
- Where
- France
- Volunteers
- 592 people
- Sponsor
- University Hospital, Montpellier
Fabry Disease, Fabry´s Disease
The Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Patients With Anderson-Fabry Disease
The current approved treatment for Fabry disease is enzyme replacement therapy (ERT). There are actually 2 products in this therapeutic class available: Replagal® (agalsidase alfa) and Fabrazyme® (agalsidase beta).
- Conditions
- Fabry Disease, Fabry´s Disease, Anderson-Fabry Disease
- Trial name
- SWITCH (NCT01268241)
- Where
- 9 sites in Argentina, Belgium and 6 more
- Volunteers
- 200 people
- Sponsor
- CENTOGENE GmbH Rostock
Fabry Disease
An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease
This study will continue to evaluate the safety of using intravenous doses of Replagal for two patients with Fabry disease. Fabry disease is a genetic disorder inherited as an X-linked recessive trait.
- Trial name
- NCT00357786
- Testing
- Replagal agalsidase alfa, Replagal
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Fabry Disease
Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease
This study aimed to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease.
- Trial name
- MODIFY (NCT03425539)
- Testing
- Lucerastat
- Where
- 49 sites in United States, Australia and 12 more
- Volunteers
- 118 people
- Sponsor
- Idorsia Pharmaceuticals Ltd.
Fabry's Disease
A Prospective Study to Investigate Safety and Tolerability of Shorter Infusion of Fabrazyme
This Phase 4 study will evaluate the safety and tolerability of Fabrazyme at current approved dose with increases in the infusion rate and reduced infusion volume.
- Trial name
- SHORTEN (NCT06019728)
- Testing
- AGALSIDASE BETA (GZ419828), Acetaminophen, Diphenhydramine
- Where
- 5 sites in United States
- Volunteers
- 8 people
- Sponsor
- Sanofi
Fabry Disease
Safety and Pharmacokinetics of AT1001 (Migalastat HCl) in Healthy Subjects and Subjects With Impaired Renal Function
This study will assess the safety, tolerability, and pharmacokinetics (PK) study of a single dose of 150 mg AT1001 (migalastat HCl, GR181413A) administered orally to healthy subjects with normal renal function and to subjects…
- Trial name
- NCT01730469
- Testing
- AT1001 150 mg
- Where
- 4 sites in United States
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Amicus Therapeutics
Fabry Disease
Real World Evidence Study of Danish Fabry Patients
Fabry is a rare X-linked metabolic lysosomal disorder caused by deficiency in the enzyme α-galactosidase A (alpha-Gal A) by mutations in the GLA gene, encoding the alpha-Gal A enzyme, which catalyses glycosphingolipids, namely…
- Trial name
- RWE-FABRY (NCT06303466)
- Where
- Denmark
- Volunteers
- 115 people
- Sponsor
- Caroline Michaela Kistorp
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
Fabry Disease, End Stage Renal Disease
Study of the Prevalence of Fabry Disease in French Dialysis Patients
Fabry Disease (FD) is a rare genetic lysosomal storage disease including an X-linked mutation and characterized by an alpha-galactosidase A (GLA) deficiency.
- Conditions
- Fabry Disease, End Stage Renal Disease, Renal Dialysis
- Trial name
- FABRYDIAL (NCT02843334)
- Testing
- Dried blood spot (DBS) sampling
- Where
- 5 sites in France
- Volunteers
- 6,000 people
- Sponsor
- Hospices Civils de Lyon
Fabry Disease
A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease
This is an 18-month, multicenter, randomized, active-control, parallel-group Phase 3 study, in which participants will be randomized to venglustat versus standard of care therapy (agalsidase alfa, agalsidase beta, or migalastat)…
- Trial name
- CARAT (NCT05280548)
- Testing
- Venglustat (GZ402671), Agalsidase alfa, Agalsidase beta (GZ419828)
- Where
- 54 sites in United States, Austria and 17 more
- Volunteers
- 104 people
- Sponsor
- Sanofi
Fabry Disease, Cardiac Variant
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 cardiac complications.
- Trial name
- NCT06226987
- Testing
- 68Ga-DOTATATE PET/MRI
- Where
- United Kingdom
- Volunteers
- 12 people
- Sponsor
- University of Cambridge
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
Fabry Disease
Treatment Protocol of Replagal for Patients With Fabry Disease
The study will evaluate the safety and efficacy of Replagal® (agalsidase alfa) at a dose of 0.2 mg/kg infused intravenously (IV) over 40 minutes, every other week.
- Trial name
- NCT01031173
- Testing
- agalsidase alfa
- Where
- 25 sites in United States
- Sponsor
- Shire
Fabry Disease
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.
- Trial name
- RISE (NCT05710692)
- Testing
- PRX-102 1 mg/kg every 2 weeks, PRX-102 2 mg/kg every 4 weeks
- Where
- 10 sites in Japan
- Volunteers
- 16 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Fabry Disease
Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry Disease
Six patients with Fabry disease will be recruited. Patients will receive a single dose of 0.2 mg/kg recombinant human alpha-galactosidase A produced in moss (moss-aGal) as intravenous infusion.
- Trial name
- NCT02995993
- Testing
- Moss-aGal (recombinant human alpha-galactosidase A produced in moss)
- Where
- 2 sites in Germany
- Volunteers
- 6 people
- Sponsor
- Greenovation Biotech GmbH
Fabry Disease
Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases
Fabry Disease (FD) is a rare, X-linked lysosomal storage disorder leading to left ventricular hypertrophy, myocardial fibrosis, arrhythmia and heart failure. Cardiac involvement is the leading cause of death in FD.
- Trial name
- FABRY400 (NCT03199001)
- Where
- 4 sites in Australia, United Kingdom
- Volunteers
- 400 people
- Sponsor
- University College, London