Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY Disease
NCT ID: NCT06325488
Last Updated: 2025-04-06
Study Results
Results pending
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
Recruitment Status
RECRUITING
Total Enrollment
60 participants
Study Classification
OBSERVATIONAL
Study Start Date
2024-06-01
Study Completion Date
2026-06-01
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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 dependent (BOLD) imaging. Furthermore, to correlate renal oxygenation to the phenotypic presentation of patients with Fabry-associated nephropathy regarding circulating and imaging-derived biomarkers of kidney inflammation, fibrosis and injury as compared with healthy age- and sex-matched controls.
The study will achieve this by:
1\) Using a non-invasive, contrast-free MRI protocol focusing on parameters of oxygenation, inflammation, fibrosis, and injury in the kidney.
2\) Using an extensive, in-depth biomarker blood panel to investigate the pathological pathways associated with Fabry disease and Fabry-associated nephropathy.
The study will achieve this by:
1\) Using a non-invasive, contrast-free MRI protocol focusing on parameters of oxygenation, inflammation, fibrosis, and injury in the kidney.
2\) Using an extensive, in-depth biomarker blood panel to investigate the pathological pathways associated with Fabry disease and Fabry-associated nephropathy.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Diagnostic Role of Renal Biopsy in Patients With Fabry Disease
NCT06801288
Fabry Disease
COMPLETED
Evaluation of Patients With Refractory Dermatomyositis Using [18F] FAPI-74 PET/MRI Imaging
NCT06568783
Refractory Dermatomyostitis
NOT_YET_RECRUITING
PHASE2
Autoimmune and Inflammatory Response Biomarkers in Fabry Disease
NCT06007768
Fabry Disease
COMPLETED
Longitudinal Spatial Frequency Domain Imaging Study
NCT05672992
Systemic Scleroderma
ACTIVE_NOT_RECRUITING
NA
Microvascular and Fibrosis Imaging Study
NCT01758250
Autoimmune Diseases
Sickle Cell Disease
Chronic Graft Versus Host Disease
COMPLETED
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
From attached protocol:
Introduction Fabry disease is a rare X-linked lysosomal disorder caused by mutations in the gene encoding the enzyme alpha-galA, an essential enzyme for normal cellular function. The enzyme deficiency causes progressive accumulation of glycosphingolipids, especially globotriaosylceramide (Gb3) in virtually all organs, leading to dysfunction and eventually leading to organ failure. Although, Fabry disease is caused by an X-linked genetic mutation and the clinical implication among men with a classic phenotype are most severe, Fabry disease affects both males and females. Men with a non-classic phenotype and females present with a more heterogenous degree of organ involvement, however, these patients remain at increased risk of multisystem organ involvement and must be attend extensive screening, evaluated repeatedly in order to decide when and who are in need of treatment. However, as evident in patients with the several known genotypes, which presents with no or very low alpha-galA-activity and develop early multi-organ involvement, one of the complication of greatest prognostic impact is an early involvement of the kidney.
Fabry nephropathy Although, the etiology of kidney affection in Fabry disease in general is well established, the actual mechanisms of progression - and thus the targets of therapeutic approach - are largely unknown. Fabry nephropathy is characterized by the accumulation of Gb3 deposition in podocytes, epithelial cells and endothelial cells throughout the tubules, where kidney biopsies suggest healthy, functioning tissue is substituted with reparative diffuse fibrosis. Indeed, evidence shows a direct association between Gb3 accumulation and both a decline in renal glomerular filtration rate and an increase in urinary albumin excretion - both clinically validated biomarkers of kidney injury and decline in function. Given Gb3 accumulation in Fabry disease accounts for less than 5% of the total tissue volume at maximum, the disproportionate and devastating effects observed have led to the proposal of Gb3 having additional effects beyond mere storage. Oxidative stress, endothelial dysfunction, and inflammation have been proposed as important mechanisms induced directly or indirectly by Gb3 accumulation, resulting in increased cell-death of functioning glomeruli with unamenable, reparative fibrosis as a result. Furthermore, certain cells seems more susceptible to injury and less susceptible to the benefits expected from Fabry-specific treatment; an important example being renal podocytes.
Fabry nephropathy and Magnetic Resonance Imaging Renal hypoxia is now considered to play a key role in the development of chronic kidney disease (CKD). Using a novel contrast-free, non-invasive magnetic resonance imaging (MRI), our collaborative partners have reported renal hypoxia in subjects with type I diabetes and pathological urinary albumin/creatinine ratio (UACR) levels. Recent advances in MRI thus, enables us to investigate the pathological mechanisms underlining Fabry nephropathy by non-invasively measurements of oxygenation, inflammation and fibrosis. The kidney's oxidative capacity evaluated by R2\*-related blood oxygenation level-dependent (BOLD) MRI has been validated as a parameter of renal cortical and medullar oxygen-partial pressure. Furthermore, changes in dynamic R2\*-signaling have been validated as a non-invasive, contrast-free measure of renal oxygenation capacity, which becomes reduced with presence of chronic kidney disease. Concurrently, arterial spin labelling (ASL) is able to provide a reliable measure of total blood flow as well as regional blood flow in the renal artery and the kidney. Finally, the inflammatory and fibrotic burden can be elucidated upon by diffusion-weighted sequences and native T1-mapping. Therefore, this novel method provides information on kidney-specific shift in energetic oxygen-dependent capacity, ongoing inflammation, and accumulation of fibrosis, with changes not only portraying key aspects of kidney physiology, but changes expected to elucidate on the pathophysiology forming the very basis of Fabry nephropathy.
While the recent advances in imaging present a unique possibility for early detection of Fabry nephropathy, there is a need for validation against clinically established biomarkers of risk such as pathologically increased UACR - currently the greatest predictor of progressive loss of glomerular function in regards to end-stage renal disease in general and in Fabry nephropathy. Pathological UACR levels is considered the first clinical sign of Fabry nephropathy, with an estimated prevalence of 50% among men aged 35 years. Even among women, which often less severely afflicted, up to 40% develop proteinuria and 15% experience a clinically significant renal event, thus, the prognostic importance of increased UACR in Fabry disease is evident. Therefore, UACR levels is the key clinical parameter of Fabry nephropathy as recommended in guidelines.
Introduction Fabry disease is a rare X-linked lysosomal disorder caused by mutations in the gene encoding the enzyme alpha-galA, an essential enzyme for normal cellular function. The enzyme deficiency causes progressive accumulation of glycosphingolipids, especially globotriaosylceramide (Gb3) in virtually all organs, leading to dysfunction and eventually leading to organ failure. Although, Fabry disease is caused by an X-linked genetic mutation and the clinical implication among men with a classic phenotype are most severe, Fabry disease affects both males and females. Men with a non-classic phenotype and females present with a more heterogenous degree of organ involvement, however, these patients remain at increased risk of multisystem organ involvement and must be attend extensive screening, evaluated repeatedly in order to decide when and who are in need of treatment. However, as evident in patients with the several known genotypes, which presents with no or very low alpha-galA-activity and develop early multi-organ involvement, one of the complication of greatest prognostic impact is an early involvement of the kidney.
Fabry nephropathy Although, the etiology of kidney affection in Fabry disease in general is well established, the actual mechanisms of progression - and thus the targets of therapeutic approach - are largely unknown. Fabry nephropathy is characterized by the accumulation of Gb3 deposition in podocytes, epithelial cells and endothelial cells throughout the tubules, where kidney biopsies suggest healthy, functioning tissue is substituted with reparative diffuse fibrosis. Indeed, evidence shows a direct association between Gb3 accumulation and both a decline in renal glomerular filtration rate and an increase in urinary albumin excretion - both clinically validated biomarkers of kidney injury and decline in function. Given Gb3 accumulation in Fabry disease accounts for less than 5% of the total tissue volume at maximum, the disproportionate and devastating effects observed have led to the proposal of Gb3 having additional effects beyond mere storage. Oxidative stress, endothelial dysfunction, and inflammation have been proposed as important mechanisms induced directly or indirectly by Gb3 accumulation, resulting in increased cell-death of functioning glomeruli with unamenable, reparative fibrosis as a result. Furthermore, certain cells seems more susceptible to injury and less susceptible to the benefits expected from Fabry-specific treatment; an important example being renal podocytes.
Fabry nephropathy and Magnetic Resonance Imaging Renal hypoxia is now considered to play a key role in the development of chronic kidney disease (CKD). Using a novel contrast-free, non-invasive magnetic resonance imaging (MRI), our collaborative partners have reported renal hypoxia in subjects with type I diabetes and pathological urinary albumin/creatinine ratio (UACR) levels. Recent advances in MRI thus, enables us to investigate the pathological mechanisms underlining Fabry nephropathy by non-invasively measurements of oxygenation, inflammation and fibrosis. The kidney's oxidative capacity evaluated by R2\*-related blood oxygenation level-dependent (BOLD) MRI has been validated as a parameter of renal cortical and medullar oxygen-partial pressure. Furthermore, changes in dynamic R2\*-signaling have been validated as a non-invasive, contrast-free measure of renal oxygenation capacity, which becomes reduced with presence of chronic kidney disease. Concurrently, arterial spin labelling (ASL) is able to provide a reliable measure of total blood flow as well as regional blood flow in the renal artery and the kidney. Finally, the inflammatory and fibrotic burden can be elucidated upon by diffusion-weighted sequences and native T1-mapping. Therefore, this novel method provides information on kidney-specific shift in energetic oxygen-dependent capacity, ongoing inflammation, and accumulation of fibrosis, with changes not only portraying key aspects of kidney physiology, but changes expected to elucidate on the pathophysiology forming the very basis of Fabry nephropathy.
While the recent advances in imaging present a unique possibility for early detection of Fabry nephropathy, there is a need for validation against clinically established biomarkers of risk such as pathologically increased UACR - currently the greatest predictor of progressive loss of glomerular function in regards to end-stage renal disease in general and in Fabry nephropathy. Pathological UACR levels is considered the first clinical sign of Fabry nephropathy, with an estimated prevalence of 50% among men aged 35 years. Even among women, which often less severely afflicted, up to 40% develop proteinuria and 15% experience a clinically significant renal event, thus, the prognostic importance of increased UACR in Fabry disease is evident. Therefore, UACR levels is the key clinical parameter of Fabry nephropathy as recommended in guidelines.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Fabry Disease
Chronic Kidney Diseases
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
Observational Model Type
CASE_CONTROL
Study Time Perspective
PROSPECTIVE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Patients with Fabry Disease and impaired kidney function
Participants included in this group
* 18 years of age or above
* Fabry Disease as verified by genetic analysis prior to inclusion
* Impaired kidney function according to the KDIGO classification (UACR ≥ 30 mg/g and eGFR \< 60 ml/min/1.73m2 \[≥ CKD G3a/A2\])
No interventions assigned to this group
Patients with Fabry Disease and normal kidney function
Participants included in this group
* 18 years of age or above
* Fabry Disease as verified by genetic analysis prior to inclusion
* Normal kidney function according to the KDIGO classification (UACR \< 30 mg/g and eGFR ≥ 60 will be included \[≤ CKD G2/A1\])
No interventions assigned to this group
Healthy controls
Participants included in this group
* 18 years of age or above
* Normal kidney function according to the KDIGO classification (UACR \< 30 mg/g and eGFR ≥ 60 will be included \[≤ CKD G2/A1\])
Furthermore, healthy controls are excluded
* Suspected of Fabry Disease or verified by genetic analysis
* Related to a patient with Fabry Disease
* Have cancer with an expected influence on life expectancy
* Known apoplexia cerebri, heart failure or established kidney disease
* Recently initiated or have had recent changes in antihypertensive medication (within 3 months)
No interventions assigned to this group
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* Male and female individuals (≥18 years of age)
* Able to give informed consent
* Male and female individuals (≥18 years of age)
* Able to give informed consent
* Male and female individuals (≥18 years of age)
Exclusion Criteria
* Any contraindication for magnetic resonance imaging according to standard checklist used in clinical routine, including claustrophobia or metallic foreign bodies, metallic implants, internal electrical devices, or permanent makeup/tattoos that cannot be declared MR compatible.
* Pregnancy
* A genetically-verified diagnosis of Fabry disease.
* Family member to a patient with a genetically-verified diagnosis of Fabry disease
* Cancer expected to influence life expectancy.
* Known heart failure, previous apoplexia or previously established kidney disease.
* Initiation or change of antihypertensive therapy within 3 months of enrolment
* Renal impairment as depicted by the CKD-EPI classification (≥ CKD G2/A1)
* Any contraindication for MRI according to standard checklist used in clinical routine, including claustrophobia or metallic foreign bodies, metallic implants, internal electrical devices, or permanent makeup/tattoos that cannot be declared MR compatible.
* Pregnancy
* Pregnancy
* A genetically-verified diagnosis of Fabry disease.
* Family member to a patient with a genetically-verified diagnosis of Fabry disease
* Cancer expected to influence life expectancy.
* Known heart failure, previous apoplexia or previously established kidney disease.
* Initiation or change of antihypertensive therapy within 3 months of enrolment
* Renal impairment as depicted by the CKD-EPI classification (≥ CKD G2/A1)
* Any contraindication for MRI according to standard checklist used in clinical routine, including claustrophobia or metallic foreign bodies, metallic implants, internal electrical devices, or permanent makeup/tattoos that cannot be declared MR compatible.
* Pregnancy
Minimum Eligible Age
18 Years
Eligible Sex
ALL
Accepts Healthy Volunteers
Yes
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Sanofi
INDUSTRY
Sponsor Role
collaborator
Caroline Michaela Kistorp
OTHER
Sponsor Role
lead
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Caroline Michaela Kistorp
Professor
Responsibility Role
SPONSOR_INVESTIGATOR
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Caroline M Kistorp, Professor
Role: PRINCIPAL_INVESTIGATOR
Rigshospitalet, Denmark
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Rigshospitalet
Copenhagen, , Denmark
Site Status
RECRUITING
Countries
Review the countries where the study has at least one active or historical site.
Denmark
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Facility Contacts
Find local site contact details for specific facilities participating in the trial.
References
Explore related publications, articles, or registry entries linked to this study.
Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med. 2009 Nov;11(11):790-6. doi: 10.1097/GIM.0b013e3181bb05bb.
Reference Type
BACKGROUND
Wanner C, Germain DP, Hilz MJ, Spada M, Falissard B, Elliott PM. Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy. Mol Genet Metab. 2019 Mar;126(3):210-211. doi: 10.1016/j.ymgme.2018.04.004. Epub 2018 Apr 11. No abstract available.
Reference Type
BACKGROUND
Najafian B, Tondel C, Svarstad E, Gubler MC, Oliveira JP, Mauer M. Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss. J Am Soc Nephrol. 2020 Apr;31(4):865-875. doi: 10.1681/ASN.2019050497. Epub 2020 Mar 3.
Reference Type
BACKGROUND
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.
Reference Type
BACKGROUND
Jehn U, Bayraktar S, Pollmann S, Van Marck V, Weide T, Pavenstadt H, Brand E, Lenders M. alpha-Galactosidase a Deficiency in Fabry Disease Leads to Extensive Dysregulated Cellular Signaling Pathways in Human Podocytes. Int J Mol Sci. 2021 Oct 20;22(21):11339. doi: 10.3390/ijms222111339.
Reference Type
BACKGROUND
Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart. 2007 Apr;93(4):528-35. doi: 10.1136/hrt.2005.063818. No abstract available.
Reference Type
BACKGROUND
Yogasundaram H, Kim D, Oudit O, Thompson RB, Weidemann F, Oudit GY. Clinical Features, Diagnosis, and Management of Patients With Anderson-Fabry Cardiomyopathy. Can J Cardiol. 2017 Jul;33(7):883-897. doi: 10.1016/j.cjca.2017.04.015. Epub 2017 May 4.
Reference Type
BACKGROUND
Eikrem O, Skrunes R, Tondel C, Leh S, Houge G, Svarstad E, Marti HP. Pathomechanisms of renal Fabry disease. Cell Tissue Res. 2017 Jul;369(1):53-62. doi: 10.1007/s00441-017-2609-9. Epub 2017 Apr 12. No abstract available.
Reference Type
BACKGROUND
Ravarotto V, Simioni F, Carraro G, Bertoldi G, Pagnin E, Calo LA. Oxidative Stress and Cardiovascular-Renal Damage in Fabry Disease: Is There Room for a Pathophysiological Involvement? J Clin Med. 2018 Nov 2;7(11):409. doi: 10.3390/jcm7110409.
Reference Type
BACKGROUND
Sanchez-Nino MD, Carpio D, Sanz AB, Ruiz-Ortega M, Mezzano S, Ortiz A. Lyso-Gb3 activates Notch1 in human podocytes. Hum Mol Genet. 2015 Oct 15;24(20):5720-32. doi: 10.1093/hmg/ddv291. Epub 2015 Jul 23.
Reference Type
BACKGROUND
Ravarotto V, Carraro G, Pagnin E, Bertoldi G, Simioni F, Maiolino G, Martinato M, Landini L, Davis PA, Calo LA. Oxidative stress and the altered reaction to it in Fabry disease: A possible target for cardiovascular-renal remodeling? PLoS One. 2018 Sep 27;13(9):e0204618. doi: 10.1371/journal.pone.0204618. eCollection 2018.
Reference Type
BACKGROUND
Fall B, Scott CR, Mauer M, Shankland S, Pippin J, Jefferson JA, Wallace E, Warnock D, Najafian B. Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. PLoS One. 2016 Dec 16;11(12):e0168346. doi: 10.1371/journal.pone.0168346. eCollection 2016.
Reference Type
BACKGROUND
Selby NM, Blankestijn PJ, Boor P, Combe C, Eckardt KU, Eikefjord E, Garcia-Fernandez N, Golay X, Gordon I, Grenier N, Hockings PD, Jensen JD, Joles JA, Kalra PA, Kramer BK, Mark PB, Mendichovszky IA, Nikolic O, Odudu A, Ong ACM, Ortiz A, Pruijm M, Remuzzi G, Rorvik J, de Seigneux S, Simms RJ, Slatinska J, Summers P, Taal MW, Thoeny HC, Vallee JP, Wolf M, Caroli A, Sourbron S. Magnetic resonance imaging biomarkers for chronic kidney disease: a position paper from the European Cooperation in Science and Technology Action PARENCHIMA. Nephrol Dial Transplant. 2018 Sep 1;33(suppl_2):ii4-ii14. doi: 10.1093/ndt/gfy152.
Reference Type
BACKGROUND
Pruijm M, Milani B, Burnier M. Blood Oxygenation Level-Dependent MRI to Assess Renal Oxygenation in Renal Diseases: Progresses and Challenges. Front Physiol. 2017 Jan 5;7:667. doi: 10.3389/fphys.2016.00667. eCollection 2016.
Reference Type
BACKGROUND
Heyman SN, Khamaisi M, Rosen S, Rosenberger C. Renal parenchymal hypoxia, hypoxia response and the progression of chronic kidney disease. Am J Nephrol. 2008;28(6):998-1006. doi: 10.1159/000146075. Epub 2008 Jul 18.
Reference Type
BACKGROUND
Inoue T, Kozawa E, Okada H, Inukai K, Watanabe S, Kikuta T, Watanabe Y, Takenaka T, Katayama S, Tanaka J, Suzuki H. Noninvasive evaluation of kidney hypoxia and fibrosis using magnetic resonance imaging. J Am Soc Nephrol. 2011 Aug;22(8):1429-34. doi: 10.1681/ASN.2010111143. Epub 2011 Jul 14.
Reference Type
BACKGROUND
Pruijm M, Mendichovszky IA, Liss P, Van der Niepen P, Textor SC, Lerman LO, Krediet CTP, Caroli A, Burnier M, Prasad PV. Renal blood oxygenation level-dependent magnetic resonance imaging to measure renal tissue oxygenation: a statement paper and systematic review. Nephrol Dial Transplant. 2018 Sep 1;33(suppl_2):ii22-ii28. doi: 10.1093/ndt/gfy243.
Reference Type
BACKGROUND
Laursen JC, Sondergaard-Heinrich N, Haddock B, Rasmussen IKB, Hansen CS, Larsson HBW, Groop PH, Bjornstad P, Frimodt-Moller M, Andersen UB, Rossing P. Kidney oxygenation, perfusion and blood flow in people with and without type 1 diabetes. Clin Kidney J. 2022 May 20;15(11):2072-2080. doi: 10.1093/ckj/sfac145. eCollection 2022 Nov.
Reference Type
BACKGROUND
Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP; Fabry Registry. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28. doi: 10.1016/j.ymgme.2007.09.013. Epub 2007 Nov 26.
Reference Type
BACKGROUND
Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52. doi: 10.1136/jmg.2005.036327. Epub 2005 Oct 14.
Reference Type
BACKGROUND
Warnock DG, Thomas CP, Vujkovac B, Campbell RC, Charrow J, Laney DA, Jackson LL, Wilcox WR, Wanner C. Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy. J Med Genet. 2015 Dec;52(12):860-6. doi: 10.1136/jmedgenet-2015-103471. Epub 2015 Oct 21.
Reference Type
BACKGROUND
Hughes DA, Aguiar P, Deegan PB, Ezgu F, Frustaci A, Lidove O, Linhart A, Lubanda JC, Moon JC, Nicholls K, Niu DM, Nowak A, Ramaswami U, Reisin R, Rozenfeld P, Schiffmann R, Svarstad E, Thomas M, Torra R, Vujkovac B, Warnock DG, West ML, Johnson J, Rolfe MJ, Feriozzi S. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. BMJ Open. 2020 Oct 10;10(10):e035182. doi: 10.1136/bmjopen-2019-035182.
Reference Type
BACKGROUND
Provided Documents
Download supplemental materials such as informed consent forms, study protocols, or participant manuals.
Document Type: Study Protocol
Document Type: Statistical Analysis Plan
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
H-23035668
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.
Biomarker for Patients With Fabry Disease (BioFabry)
NCT02778295
WITHDRAWN
Cardiac Involvement in Adult Patients With Fabry Disease; Relation to Enzyme Replacement Therapy
NCT02908724
COMPLETED
Nephrogenic Systemic Fibrosis (NSF): Analysis of Tissue Gadolinium Levels
NCT01014754
COMPLETED
Early Detection and Follow-Up of Patients With Fabry's Disease
NCT04847713
UNKNOWN
Optical Coherence Tomography Imaging in Systemic Sclerosis
NCT04532151
COMPLETED
NA
Study of Skin Tumors in Tuberous Sclerosis
NCT00001975
RECRUITING
Stimulatory Autoantibodies to the Platelet-Derived Growth Factor Receptor (PDGFR) in Patients With Systemic Sclerosis
NCT00667134
COMPLETED
Neuropathic Pain and Fabry Disease
NCT00168974
COMPLETED
Early Diagnosis of Pulmonary Hypertension in Patients With Inflammatory Rheumatic Connective Tissue Diseases
NCT01387035
RECRUITING
Gene First Approach to Connective Tissue Disease
NCT04664478
COMPLETED
The Scleroderma Biorepository and Pathogenesis Study (STOP Scleroderma)
NCT02887495
COMPLETED
Familial Systemic Scleroderma
NCT07343115
RECRUITING
Short Term Observational Study in DEB Patients
NCT02178969
COMPLETED
Pathogenic Mechanisms Involved in the Initiation and Progression of Systemic Sclerosis
NCT07015060
NOT_YET_RECRUITING
NA
Treatment and Prevention of Progression of Interstitial Lung Disease in Systemic Sclerosis
NCT01858259
UNKNOWN
Diffuse Cutaneous Scleroderma (DSSc) SFDI Study
NCT07090226
RECRUITING
NA
Novel Screening Strategies for Scleroderma PAH
NCT01959815
COMPLETED
Role of Eosinophil in Fibrogenesis of Systemic Sclerosis
NCT03816189
COMPLETED
Stem Cell Factor, a Potential Biological Marker of Skin Involvement in Systemic Sclerosis?
NCT05482594
UNKNOWN
Plasmapheresis for Nephrogenic Fibrosing Dermopathy (NFD)/Nephrogenic Systemic Fibrosis (NSF)
NCT01078987
TERMINATED
PHASE4
Coagulopathy of Immunodermatologic Diseases
NCT06037187
RECRUITING
Defining the Basis of Fibromuscular Dysplasia (FMD)
NCT01967511
RECRUITING
Validation of a Questionnaire to Identify Signs and Symptoms of Nephrogenic Systemic Fibrosis
NCT00869479
COMPLETED
A Protocol Based Treatment for Debilitating Fibrosing Skin Disorders With (Anti-CD 20), Rituximab, Evaluating Safety and Efficacy
NCT00936546
COMPLETED
PHASE2
Natural History Study of Cutaneous Neurofibromas in People With NF1
NCT05581511
ACTIVE_NOT_RECRUITING