Clinical trials: Fabry's Disease
Anderson-Fabry Disease
Follow-up of Myocardial T1 Relaxation Time in Patients With Anderson Fabry Disease
Anderson Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase. AFD can involve various organs and lead to a series of clinical abnormalities.
- Trial name
- MyFABT1 (NCT02956954)
- Testing
- Enzyme replacement therapy (Agalsidase alpha (Replagal®)), Magnetic Resonance Imaging
- Where
- France
- Volunteers
- 26 people
- Sponsor
- University Hospital, Rouen
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
A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants
An open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric subjects 2 to < 12 years of age with Fabry disease and with amenable GLA variants.
- Trial name
- NCT06904261
- Testing
- Migalastat HCl 20 mg
- Where
- 12 sites in United States, Belgium and 4 more
- Volunteers
- 8 people
- Sponsor
- Amicus Therapeutics
Fabry Disease
Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients
We hypothesize that Fabry disease - FD is associated with elevated vascular resistance induced by cerebral small-vessel disease, indicating increased distal resistance to blood flow.
- Trial name
- NCT04577170
- Testing
- Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography
- Where
- Greece
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- National and Kapodistrian University of Athens
Fabry Disease
An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease
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
- NCT04519749
- Testing
- 4D-310
- Where
- 4 sites in United States
- Volunteers
- 18 people
- Sponsor
- 4D Molecular Therapeutics
Ischemic Stroke Hospitalized
Fabry : National Initiative of Screening
Fabry disease is a genetic disease due to an enzymatic deficit. A screening of this disease allows patients to benefit from an enzyme replacement therapy and prevent the occurrence of life threatening manifestations such as an…
- Trial name
- FIND (NCT00484549)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 889 people
- Sponsor
- University Hospital, Clermont-Ferrand
Fabry Disease
Open-Label Phase 3 Long-Term Safety Study of Migalastat
This was a long-term, open-label study of migalastat (123 milligrams [mg] of migalastat [equivalent to 150 mg of migalastat hydrochloride]) (migalastat) in participants with Fabry disease who completed treatment in a previous…
- Trial name
- AT1001-041 (NCT01458119)
- Testing
- migalastat hydrochloride
- Where
- 25 sites in United States, Argentina and 11 more
- Volunteers
- 85 people
- Sponsor
- Amicus Therapeutics
ESRD
Fabry Disease Screening in ESRD Patients in West of France
Screening of Fabry disease in end-stage renal disease (ESRD) patients on dialysis or transplant in west of France.
- Trial name
- SNOUFY (NCT02719249)
- Testing
- Dried blood spot test
- Where
- France
- Volunteers
- 500 people
- Sponsor
- Rennes University Hospital
Fabry Disease
This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes.
This study is designed to evaluate safety and PK/PD in Canadian Fabry patients.
- Trial name
- NCT01304277
- Testing
- agalsidase alfa
- Where
- 5 sites in Canada
- Volunteers
- 17 people
- Sponsor
- Shire
Fabry Disease
A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease
Study to evaluate the safety, tolerability, and pharmacodynamics of migalastat hydrochloride (HCl) (migalastat) in participants with Fabry disease.
- Trial name
- NCT00304512
- Testing
- migalastat HCl
- Where
- 6 sites in United States, Australia and 4 more
- Volunteers
- 9 people
- Sponsor
- Amicus Therapeutics
Fabry Disease
A Study of Fabrazyme in Pediatric 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
- NCT00074958
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 7 sites in United States, France and 2 more
- Volunteers
- 16 people
- Sponsor
- Genzyme, a Sanofi Company
Fabry Disease
Enzyme Replacement Therapy in Fabry Disease
Fabry disease is an X-linked rare metabolic disease, caused by a deficient activity of the hydrolase α-Galactosidase A, and characterized by a progressive and systematic deposition of glycosphingolipids in many organs.
- Trial name
- NCT00149318
- Testing
- Biochemical analyses.
- Where
- Italy
- Volunteers
- 2 people
- Sponsor
- Mario Negri Institute for Pharmacological Research
Fabry Disease, Healthy
PET Scans in Normal Volunteers and Patients With Fabry Disease
This study will determine the rate of sugar metabolism in the brain of patients with Fabry disease, a genetic disease of abnormal lipid metabolism.
- Trial name
- NCT00005111
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Fabry's Disease
Evaluation of the Gastrointestinal Manifestation of Fabry's Disease
Patients will undergo a SmartPill test to gain additional understanding of Fabry disease manifestation via motility abnormalities in order to improve symptom targeted therapy.
- Trial name
- NCT02798458
- Testing
- Smartpill, Endoscopic Mucosal Resection
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Massachusetts General Hospital
Fabry Disease
Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease
This is an open-label extension study intended to provide continued treatment with migalastat hydrochloride (HCl) for participants with Fabry disease who completed treatment of a previous migalastat HCl study.
- Trial name
- NCT02194985
- Testing
- migalastat HCl 150 mg
- Where
- 28 sites in United States, Argentina and 13 more
- Volunteers
- 84 people
- Sponsor
- Amicus Therapeutics
Fabry Disease
Evaluation of Phenotypic Variability in Fabry Disease
Cerebrovascular events, such as stroke, are a devastating complication of Fabry disease that results in part from storage of complex lipids in both large and small vessels.
- Trial name
- NCT03145779
- Where
- United States
- Sponsor
- Boston Children's 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's Disease, Pregnancy
Fabry's Disease and Pregnancy (PREFAB)
Fabry's disease is a progressive systemic disease X-linked which combines neurological (Fabry's pain crises), dermatologic (angiokeratomas), renal (renal failure), cardiovascular (hypertrophic cardiomyopathy, valvular disease…
- Trial name
- PREFAB (NCT02582294)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Groupe Hospitalier Diaconesses Croix Saint-Simon
Fabry Disease
A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms
The purpose of this study was to determine whether 2 alternative dosing regimens of Fabrazyme (Agalsidase beta) (1.0 mg/kg every 4 weeks or 0.5 mg/kg every 2 weeks) were effective in treatment-naïve pediatric participants without…
- Trial name
- FIELD (NCT00701415)
- Testing
- Agalsidase beta
- Where
- 12 sites in United States, Argentina and 7 more
- Volunteers
- 31 people
- Sponsor
- Genzyme, a Sanofi Company
CADASIL, CADASIL (Diagnosis)
RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)
Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined origin.
- Conditions
- CADASIL, CADASIL (Diagnosis), Moya Moya Disease, Moyamoya
- Trial name
- ALIGNED (NCT06935578)
- Where
- 17 sites in Italy
- Volunteers
- 500 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta