Clinical trials: Fabry Disease, open to volunteers
Fabry Disease, Aged 65 Years or Older
Study of the Quality of Life of Patients With Fabry Disease Aged 65 and Over With and Without Specific Treatment
Fabry disease is a rare genetic disorder affecting 1 in 10,000 individuals, leading to complications such as chronic pain, heart and kidney failure, and strokes, ultimately impacting life expectancy.
- Conditions
- Fabry Disease, Aged 65 Years or Older, Alpha Galactosidase A Deficiency, Galactosidase A Gene Mutation
- Trial name
- FABRY65 (NCT07277361)
- Where
- France
- Volunteers
- 100 people
- Sponsor
- Wladimir MAUHIN, Dr
Fabry Disease
Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting
PEGASO is an observational study designed to collect prospective data on the effectiveness and safety of pegunigalsidase alfa in adult patients with Fabry disease, being treated or planning to start treatment, under real-world…
- Trial name
- PEGASO (NCT07109375)
- Testing
- pegunigalsidase alfa
- Where
- 7 sites in Italy
- Volunteers
- 75 people
- Sponsor
- Chiesi Italia
Fabry Disease, Chronic Kidney Diseases
Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY Disease
The overall objective of this study is to investigate Fabry-associated renal organ involvement by using a novel magnetic resonance imaging (MRI) approach, focusing on changes in renal oxygen levels by blood oxygenation-level…
- Trial name
- FORTIFY (NCT06325488)
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Caroline Michaela Kistorp
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
Cardiomyopathies, Amyloidosis Cardiac
Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation
The study aims to identify new diagnostic and prognostic markers for CMP that can help predict disease progression. In particular, the study will focus on microRNAs (miRNAs) and spatial transcriptomics, which are emerging…
- Conditions
- Cardiomyopathies, Amyloidosis Cardiac, Fabry Disease, Arrhythmogenic Cardiomyopathy
- Trial name
- CMPMIRNA (NCT06813443)
- Where
- 3 sites in Italy
- Volunteers
- 700 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Fabry Disease
A Study of Agalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry Disease
Fabry Disease is a rare blood disorder that some people are born with. People with Fabry disease have low levels of an enzyme called alpha-galactosidase A. This enzyme helps to cut down fat-like substances.
- Trial name
- NCT07187440
- Testing
- No intervention
- Where
- 18 sites in China
- Volunteers
- 200 people
- Sponsor
- Takeda
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
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
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
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
HCM - Hypertrophic Cardiomyopathy, Anderson Fabry Disease
Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes
This observational study aims to evaluate myocardial perfusion abnormalities using quantitative and qualitative cardiac magnetic resonance (CMR) perfusion imaging in patients with hypertrophic cardiomyopathy (HCM) phenotypes…
- Conditions
- HCM - Hypertrophic Cardiomyopathy, Anderson Fabry Disease, Cardiac Magnetic Resonance Imaging, Amyloid Cardiomyopathy
- Trial name
- MyoPerf-HCM (NCT07382128)
- Where
- Italy
- Volunteers
- 250 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Fabry Disease
Therapeutic Implications of CMR Low Native T1 in Non-treated Non-hypertrophic Females With Fabry Disease (FD)
Females with Fabry disease are characterized by variable phenotypes regarding time of onset, severity of symptoms and progression of disease due to the random inactivation of X chromosome leading to a cellular mosaic of mutated…
- Trial name
- NATI-Fab (NCT07872852)
- Testing
- Decision tree for initiating treatment
- Where
- 12 sites in France
- Volunteers
- 60 people
- Sponsor
- University Hospital, Bordeaux
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Non-ischemic Cardiomyopathy, Dilated Cardiomyopathy (DCM)
Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients with Non-ischemic Cardiomyopathies and Arrhythmogenic-inflammatory Phenotypes: a Multicenter, Observational, Retrospective and Prospective Registry Study.
Non-ischemic cardiomyopathies (NICM) represent a heterogeneous group of pathologies characterized by absence of obstructive disease of the epicardial coronary vessels and distinct structural and functional changes of the…
- Conditions
- Non-ischemic Cardiomyopathy, Dilated Cardiomyopathy (DCM), Hypertrophic Cardiomyopathy (HCM), Restrictive Cardiomyopathy
- Trial name
- AINICM (NCT06607471)
- Testing
- Support treatment, cardiac medical treatment, aetiology-specific treatment, device implant, arrhythmia ablation, Support treatment, cardiac medical treatment, aetiology-specific treatment
- Where
- Italy
- Volunteers
- 15,000 people
- Sponsor
- Scientific Institute San Raffaele
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
A Study of Replagal in Children and Adults With Fabry Disease in India
The main aim of this study is to learn more about the safety profile of Replagal. Participants will receive Replagal every 2 weeks at the clinic for about 1 year.
- Trial name
- NCT05067868
- Testing
- Replagal
- Where
- 3 sites in India
- Volunteers
- 5 people
- Sponsor
- Shire
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
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
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
Non-ischemic Cardiomyopathy, Cardiomyopathies
Cardiovascular Multimodality Imaging Study
Determining the etiology of cardiomyopathy is of high clinical importance for optimal treatment strategy and prediction of prognosis.
- Conditions
- Non-ischemic Cardiomyopathy, Cardiomyopathies, Hypertrophic Cardiomyopathy, Right Ventricular Arrhythmogenic Cardiomyopathy
- Trial name
- NCT06610019
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Montefiore Medical Center