Fabry Disease Clinical Trial
Official title:
National Registry of Rare Kidney Diseases (RaDaR)
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: - Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. - Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better. - Further the development of future treatments. Participants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.
Background Rare diseases are arbitrarily defined as having an incidence such that they cannot be studied effectively on patient groups drawn from one or a few medical centres. A high proportion of such disorders have a genetic background and often these diseases are first expressed in childhood. The success of chronic and end-stage renal failure programmes in childhood permit increased numbers of these patients to survive into adulthood. There are 13 centres for paediatric nephrology in the UK. For a rare disorder that a paediatric nephrologist might diagnosis only once a year, and assuming 100% survival to adulthood, a renal physician might be asked to take over such a case only once in seven or eight years of practice. Research is hampered by this dilution of clinical experience. Similarly in adult practice there are rare complications of diseases or their treatment so that a nephrologist might encounter such an event less often than once in every 5 years. National aggregation of clinical experience is essential to further study. Research groups investigating a rare disease (Rare Disease Groups, RDGs) have difficulty accessing patients who are widely distributed. While rare disease groups are often successful in identifying novel genotypes in a few individuals, it is more difficult to define phenotype and undertake phenotype-genotype correlations. Moreover, the scarcity of patients makes it difficult to develop biomarkers or identify well-defined cohorts in which to test novel treatments. As a result, the progression and outcome for many rare diseases are unknown and treatment remains underdeveloped. Purpose The purpose of the National Registry of Rare Kidney Diseases (RaDaR; rare disease registry) is to facilitate translational and epidemiological research into rare kidney diseases by setting up and maintaining a comprehensive clinical database in partnership with Rare Disease Groups. RaDaR facilitates the identification of well-characterized cohorts of patients who may be invited to participate in clinical trials, the development of biomarkers, phenotype-genotype correlations or outcome studies. This will inform the development of clinical guidelines for specific rare diseases, audit treatment and outcome and further the development of future therapies. RaDaR provides an infrastructure to capture both generic and disease-specific clinical information and to collate longitudinal information. Patients and clinicians can view information about the conditions covered by RaDaR on RareRenal.org, which links closely with RaDaR. RaDaR is predominately aimed at UK patients; however international recruits who are consented in the UK by an NHS hospital are also eligible, subject to local approval. ;
Status | Clinical Trial | Phase | |
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Recruiting |
NCT04893889 -
Substudy (NCT04456582): Noninvasive Assessment of Myocardial Stiffness by 2D-SWE Ultrasound Technique (Two-dimensional Shear Wave Elastography) in Patients With Amyloidosis and Fabry Disease.
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N/A | |
Completed |
NCT04455230 -
A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190
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Phase 1/Phase 2 | |
Completed |
NCT01218659 -
Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease
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Phase 3 | |
Completed |
NCT00304512 -
A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease
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Phase 2 | |
Withdrawn |
NCT04189601 -
Complement Activation in the Lysosomal Storage Disorders
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Completed |
NCT03500094 -
Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)
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Phase 3 | |
Withdrawn |
NCT04143958 -
To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry Disease
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Phase 4 | |
Recruiting |
NCT02994303 -
Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy
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N/A | |
Completed |
NCT01947634 -
Sleepiness and Sleep-disordered Breathing in Fabry Disease. A Prospective Cohort Study.
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N/A | |
Recruiting |
NCT01695161 -
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
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N/A | |
Completed |
NCT01853852 -
A Phase I, Randomized, Single-Blind, Four-Period Cross-Over, Placebo-Controlled, Dose-Escalation Study to Evaluate the Safety and Pharmacokinetics of Single Oral Doses of GR181413A/AT1001 in Healthy Japanese Subjects
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Phase 1 | |
Completed |
NCT00701415 -
A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms
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Phase 3 | |
Completed |
NCT00068107 -
Dosing Study of Replagal in Patients With Fabry Disease
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Phase 2 | |
Completed |
NCT01997489 -
Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.
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Phase 4 | |
Recruiting |
NCT06007768 -
Autoimmune and Inflammatory Response Biomarkers in Fabry Disease
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Recruiting |
NCT05698901 -
Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease
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Active, not recruiting |
NCT03305250 -
Arrhythmia Burden, Risk of Sudden Cardiac Death and Stroke in Patients With Fabry Disease
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N/A | |
Terminated |
NCT00526071 -
Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study
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Phase 2 | |
Active, not recruiting |
NCT03566017 -
Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease
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Phase 3 | |
Recruiting |
NCT06065605 -
Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease
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