Fabry disease
Information
- Disease name
- Fabry disease
- Disease ID
- DOID:14499
- Description
- "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22." [url:https\://ghr.nlm.nih.gov/condition/fabry-disease]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| RPL36A-HNRNPH2 | X | 101,391,012 | 101,412,165 | 2 |
| GLA | X | 101,397,803 | 101,407,925 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05629559 | Active, not recruiting | Phase 1/Phase 2 | 4D-310 in Adults With Fabry Disease and Cardiac Involvement | October 16, 2022 | January 2030 |
| NCT05067868 | Active, not recruiting | Phase 4 | A Study of Replagal in Children and Adults With Fabry Disease in India | November 1, 2022 | November 30, 2026 |
| NCT03737214 | Active, not recruiting | Phase 3 | A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease | December 18, 2018 | November 29, 2025 |
| NCT03949920 | Active, not recruiting | A Study of Migalastat in Fabry Disease | May 16, 2019 | December 31, 2023 | |
| NCT04943991 | Active, not recruiting | N/A | Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score | July 1, 2021 | October 1, 2024 |
| NCT05106764 | Active, not recruiting | Early Detection of Fabry Disease | November 30, 2023 | April 30, 2024 | |
| NCT04046224 | Active, not recruiting | Phase 1/Phase 2 | Dose-Ranging Study of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy in Subjects With Fabry Disease (STAAR) | July 23, 2019 | September 2025 |
| NCT03614234 | Active, not recruiting | Phase 3 | Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients | November 13, 2018 | December 2024 |
| NCT04519749 | Active, not recruiting | Phase 1/Phase 2 | An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease | September 1, 2020 | June 2030 |
| NCT03566017 | Active, not recruiting | Phase 3 | Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease | September 16, 2018 | April 2025 |
| NCT03305250 | Active, not recruiting | N/A | Arrhythmia Burden, Risk of Sudden Cardiac Death and Stroke in Patients With Fabry Disease | September 18, 2019 | July 2027 |
| NCT06303466 | Active, not recruiting | Real World Evidence Study of Danish Fabry Patients | August 1, 2023 | December 31, 2024 | |
| NCT04049760 | Active, not recruiting | Phase 3 | Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease | October 14, 2019 | December 1, 2025 |
| NCT01476163 | Approved for marketing | Physician Initiated Expanded Access Request for Migalastat in Individual Patients With Fabry Disease | |||
| NCT04552691 | Available | Open-Label Expanded Access Treatment With Pegunigalsidase Alfa for Fabry Disease Patients | |||
| NCT00140621 | Completed | Phase 4 | A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease | July 2005 | August 2012 |
| NCT00168974 | Completed | Neuropathic Pain and Fabry Disease | January 2004 | November 2007 | |
| NCT00196716 | Completed | Phase 2 | A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease | June 2003 | March 2007 |
| NCT00214500 | Completed | Phase 2 | A Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease | January 2, 2006 | January 29, 2008 |
| NCT00233870 | Completed | A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. | June 2004 | March 2011 | |
| NCT00283933 | Completed | Phase 2 | A 24-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease | May 9, 2006 | March 12, 2008 |
| NCT00283959 | Completed | Phase 2 | A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease | June 27, 2006 | May 8, 2008 |
| NCT00304512 | Completed | Phase 2 | A 12-Week Safety and Pharmacodynamic Study of AT1001 (Migalastat Hydrochloride) in Female Participants With Fabry Disease | September 7, 2006 | May 9, 2008 |
| NCT00343577 | Completed | Antiproteinuric Agents and Fabry Disease | January 2001 | December 2006 | |
| NCT00357786 | Completed | Phase 1 | An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease | October 2003 | |
| NCT00413595 | Completed | Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation | July 2007 | December 1, 2019 | |
| NCT00446862 | Completed | The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study | March 2007 | December 2012 | |
| NCT00701415 | Completed | Phase 3 | A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms | September 2008 | June 2015 |
| NCT00864851 | Completed | Phase 3 | Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease | December 29, 2008 | July 5, 2012 |
| NCT00925301 | Completed | Phase 3 | Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease | October 23, 2009 | January 29, 2014 |
| NCT01019629 | Completed | Fabry Screening Study | January 29, 2009 | December 7, 2017 | |
| NCT01124643 | Completed | Phase 3 | Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease | April 13, 2010 | July 8, 2013 |
| NCT01165697 | Completed | Establishment of Biomarkers for Fabry Disease | July 2010 | December 2014 | |
| NCT01196871 | Completed | Phase 2 | Drug-Drug Interaction Study Between AT1001 (Migalastat Hydrochloride) and Agalsidase in Participants With Fabry Disease | February 2, 2011 | October 9, 2012 |
| NCT01210196 | Completed | Sophisticated Assessment of Disease Burden in Patients With Fabry Disease | October 31, 2010 | September 30, 2013 | |
| NCT01218659 | Completed | Phase 3 | Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease | September 8, 2011 | May 28, 2015 |
| NCT01268241 | Completed | The Efficacy and Safety of Switch Between Agalsidase Beta to Agalsidase Alfa for Enzyme Replacement in Patients With Anderson-Fabry Disease | December 2010 | April 2016 | |
| NCT01295008 | Completed | Androgenetic Alopecia in Fabry Disease | December 2010 | October 2015 | |
| NCT01298141 | Completed | Phase 3 | A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease | August 10, 2011 | September 25, 2017 |
| NCT01304277 | Completed | Phase 2 | This Study is Designed to Evaluate PD/PK and Safety of Replagal Manufactured by Two Different Processes. | November 17, 2011 | December 28, 2012 |
| NCT01355146 | Completed | Home Therapy With Replagal in Fabry Disease | March 15, 2011 | September 30, 2017 | |
| NCT01363492 | Completed | Phase 2 | Safety Study of Replagal® Therapy in Children With Fabry Disease | May 12, 2011 | April 17, 2013 |
| NCT01374997 | Completed | N/A | Detection of Fabry Disease in Chronic Renal Failure Patients in Area Provence - Alpes - Côte d'Azur | June 2011 | May 14, 2013 |
| NCT01489995 | Completed | Phase 1 | Migalastat Food Effect Study | October 2011 | December 2011 |
| NCT01632111 | Completed | Pulmonary Involvement in Patients With Fabry Disease | July 2012 | May 2014 | |
| NCT01650779 | Completed | Phase 4 | A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta | April 2012 | March 2013 |
| NCT01653444 | Completed | Phase 1 | Evaluate the Safety and Exploratory Efficacy of GC1119 | November 2012 | October 2015 |
| NCT01678898 | Completed | Phase 1/Phase 2 | Dose-ranging Study of PRX-102 in Adult Fabry Disease Patients | October 2012 | March 6, 2016 |
| NCT04804566 | Completed | Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients | March 1, 2023 | November 1, 2023 | |
| NCT00005111 | Completed | PET Scans in Normal Volunteers and Patients With Fabry Disease | April 2000 | March 2001 | |
| NCT00030134 | Completed | Data Collection in Women With Fabry Disease | January 2002 | February 2003 | |
| NCT00048906 | Completed | Phase 2 | Alpha-Galactosidase A Replacement Therapy for Fabry Disease | November 2002 | November 2003 |
| NCT00055016 | Completed | Registry of Fabry Disease - A Multicenter Observational Study | February 13, 2003 | March 3, 2008 | |
| NCT00068107 | Completed | Phase 2 | Dosing Study of Replagal in Patients With Fabry Disease | September 2003 | December 2013 |
| NCT00071877 | Completed | Phase 2 | An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease | October 2003 | June 2005 |
| NCT00074958 | Completed | Phase 2 | A Study of Fabrazyme in Pediatric Patients With Fabry Disease | October 2002 | July 2005 |
| NCT00074971 | Completed | Phase 3 | A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease | October 1999 | December 2004 |
| NCT00074984 | Completed | Phase 4 | A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease | February 2001 | January 2004 |
| NCT00075244 | Completed | Phase 2 | Alternative Dosing and Regimen of Replagal to Treat Fabry Disease | January 2004 | November 2005 |
| NCT00081497 | Completed | Phase 4 | A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease | January 2004 | September 2005 |
| NCT00084084 | Completed | Phase 2 | Replagal Enzyme Replacement Therapy for Children With Fabry Disease | June 10, 2004 | June 15, 2011 |
| NCT00097890 | Completed | Phase 4 | Replagal Enzyme Replacement Therapy for Adults With Fabry Disease | November 2004 | December 2005 |
| NCT00106912 | Completed | Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity | March 28, 2005 | March 27, 2008 | |
| NCT01730469 | Completed | Phase 1 | Safety and Pharmacokinetics of AT1001 (Migalastat HCl) in Healthy Subjects and Subjects With Impaired Renal Function | August 2011 | April 2012 |
| NCT01730482 | Completed | Phase 1 | A Study to Assess the Absorption, Metabolism and Excretion of Migalastat Hydrochloride (AT1001-014) | August 2011 | September 2011 |
| NCT01745185 | Completed | Immune Response in Subjects With Fabry Disease Who Are Switching From Agalsidase Alfa to Agalsidase Beta | June 2012 | August 7, 2016 | |
| NCT01853852 | Completed | Phase 1 | 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 | September 2011 | December 2011 |
| NCT01947634 | Completed | N/A | Sleepiness and Sleep-disordered Breathing in Fabry Disease. A Prospective Cohort Study. | September 2013 | February 2015 |
| NCT01981720 | Completed | Phase 1/Phase 2 | Extension Study of PRX-102 for up to 60 Months | January 16, 2014 | November 9, 2021 |
| NCT01997489 | Completed | Phase 4 | Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. | September 2001 | October 2014 |
| NCT02023086 | Completed | Clinical Investigation on the Blood Oxygenation at the Optic Nerve Head in Fabry Patients | August 2014 | September 2016 | |
| NCT02082327 | Completed | Phase 1 | A Phase 1 Study To Evaluate the Safety of Migalastat Hydrochloride Given Intravenously to Healthy Volunteers | March 2014 | June 2014 |
| NCT02090608 | Completed | N/A | Paricalcitol in Fabry Disease | March 2012 | December 2013 |
| NCT02152189 | Completed | Screening for Fabry Disease in a Pediatric Population at Risk | May 2014 | November 2017 | |
| NCT02194985 | Completed | Phase 3 | Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease | March 14, 2015 | October 23, 2019 |
| NCT02228460 | Completed | Phase 2 | Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease | November 2014 | September 2016 |
| NCT02489344 | Completed | Phase 2 | Evaluation of the Long-term Safety, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-Naïve Adult Male Patients With Fabry Disease | July 7, 2015 | November 20, 2018 |
| NCT02795676 | Completed | Phase 3 | Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function | June 2016 | July 2022 |
| NCT02800070 | Completed | Phase 1 | Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease | July 2016 | April 2024 |
| NCT02908724 | Completed | Cardiac Involvement in Adult Patients With Fabry Disease; Relation to Enzyme Replacement Therapy | November 2014 | February 9, 2016 | |
| NCT02930655 | Completed | Phase 1 | A Study to Assess the Safety and Tolerability of Lucerastat in Subjects With Fabry Disease | February 1, 2015 | February 1, 2016 |
| NCT02969200 | Completed | Fabry: Renal Function During Long-term ERT by 51Cr-EDTA Clearance | April 2015 | December 9, 2016 | |
| NCT02985710 | Completed | N/A | Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan | August 2016 | August 2020 |
| NCT02995993 | Completed | Phase 1 | Pharmacokinetics, Pharmacodynamics, and Safety of Moss-aGalactosidase A in Patients With Fabry Disease | November 2016 | October 9, 2017 |
| NCT03018730 | Completed | Phase 3 | Safety and Efficacy of PRX-102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) | May 17, 2017 | January 9, 2020 |
| NCT03135197 | Completed | German Observational Multicenter Study of Patients With Fabry Disease Under Chaperone Therapy With Migalastat-HCl. | June 8, 2017 | June 30, 2020 | |
| NCT03180840 | Completed | Phase 3 | Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks | July 10, 2017 | August 1, 2020 |
| NCT03230149 | Completed | Prevalence and Characteristics of Fabry Disease (FD) in Patients With Stroke or Small Fiber Neuropathy | March 12, 2018 | December 24, 2021 | |
| NCT03289065 | Completed | Fabry Outcome Survey (FOS) | April 1, 2001 | September 30, 2021 | |
| NCT03425539 | Completed | Phase 3 | Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease | June 21, 2018 | September 2, 2021 |
| NCT03500094 | Completed | Phase 3 | Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years) | September 27, 2018 | February 6, 2021 |
| NCT03678324 | Completed | N/A | Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease | January 27, 2020 | March 30, 2022 |
| NCT03838237 | Completed | Effect of Migalastat on Cardiac Involvement in Fabry Disease | January 10, 2018 | January 22, 2021 | |
| NCT04043273 | Completed | Treatment-related Benefit and Satisfaction in Fabry Patients. Insight in Patients Expectations and Preferences | April 4, 2019 | January 30, 2023 | |
| NCT04050137 | Completed | N/A | Therapeutic Exercise to Treat Neuropathic Pain | May 2, 2019 | December 14, 2020 |
| NCT04073888 | Completed | N/A | Study of the Spermatic Characteristics of Patients With Fabry Disease | February 20, 2009 | October 18, 2013 |
| NCT04281537 | Completed | A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy. | March 1, 2020 | May 18, 2022 | |
| NCT04455230 | Completed | Phase 1/Phase 2 | A Long Term Follow-Up Study of Fabry Disease Subjects Treated With FLT190 | September 8, 2020 | September 28, 2023 |
| NCT04577170 | Completed | Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients | November 20, 2020 | January 20, 2023 | |
| NCT04602364 | Completed | French Prospective, Observational Cohort Study of Patients With Fabry Disease Treated With Migalastat | October 15, 2020 | June 30, 2023 | |
| NCT04708301 | Completed | Characterisation of Heart Involvement in Fabry Disease With T1 Mapping | March 12, 2014 | December 31, 2020 | |
| NCT00001774 | Completed | Vasodilation in Patients With Fabry's Disease | October 1997 | October 2000 | |
| NCT04916977 | Completed | Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease | June 23, 2021 | June 30, 2022 | |
| NCT04974749 | Completed | Phase 3 | A Study of REPLAGAL® in Treatment-naive Chinese Participants With Fabry Disease | May 6, 2022 | January 3, 2024 |
| NCT05046379 | Completed | Studying Lipids as Potential Biomarkers in Patients With Fabry Disease | October 14, 2021 | April 28, 2024 | |
| NCT05054387 | Completed | Phase 4 | China Post-marketing Surveillance (PMS) Study of Fabrazyme® | October 13, 2021 | March 9, 2023 |
| NCT05186324 | Completed | Fabry Patient's Experience Of PegunigaLsidasE Alfa Monthly Infusion | January 26, 2022 | August 31, 2022 | |
| NCT05343715 | Completed | Phase 1 | PK/PD Study of 2 Agalsidase Formulations in Single Dose of 1 mg/kg Administered to Healthy Volunteers as IV Infusion | October 23, 2021 | April 17, 2022 |
| NCT05671770 | Completed | Study Based on Electronic Health RecOrds to Identify Patients at High-risk of Fabry DiseasE (HOPE Fabry) | July 28, 2023 | December 14, 2023 | |
| NCT05368038 | Enrolling by invitation | ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program | May 10, 2021 | July 31, 2026 | |
| NCT05039866 | Enrolling by invitation | Long-Term Follow-up of Subjects Who Were Treated With ST-920 | August 16, 2021 | June 2029 | |
| NCT01031173 | No longer available | Treatment Protocol of Replagal for Patients With Fabry Disease | |||
| NCT05710367 | Not yet recruiting | Phase 2 | Effects Of Sodium Glucose Cotranspoter 2 Inhibitors On Heart And Kidneys In Fabry Disease Patients | August 2023 | August 2024 |
| NCT06325488 | Not yet recruiting | Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY Disease | April 1, 2024 | June 1, 2025 | |
| NCT06207552 | Not yet recruiting | Early Phase 1 | Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease | February 2024 | June 2029 |
| NCT04440254 | Not yet recruiting | N/A | Long Duration Holter ECG in Fabry Disease | September 1, 2020 | September 1, 2025 |
| NCT06328608 | Not yet recruiting | Phase 2/Phase 3 | A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease | October 2024 | March 2028 |
| NCT00196742 | Recruiting | Fabry Disease Registry & Pregnancy Sub-registry | July 31, 2001 | January 31, 2034 | |
| NCT01581424 | Recruiting | Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study | October 2010 | September 2024 | |
| NCT05698901 | Recruiting | Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease | September 19, 2023 | September 30, 2027 | |
| NCT05679076 | Recruiting | A Qualitative Study on the Pain and Quality of Life of Patients With Fabry Disease | January 11, 2023 | May 12, 2023 | |
| NCT03230591 | Recruiting | Impact of Agalsidase Alfa Therapy on Cardiac funcTION in Patients With Fabry's Cardiomyopathy | July 12, 2017 | January 2025 | |
| NCT04252066 | Recruiting | A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding | April 17, 2020 | February 2030 | |
| NCT06052800 | Recruiting | Agalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in Taiwan | September 13, 2023 | September 4, 2026 | |
| NCT06065605 | Recruiting | Assess Urine Biomarkers to Predict Nephropathy in Fabry Disease | September 14, 2023 | September 12, 2025 | |
| NCT05761834 | Recruiting | FASHION Fabry Disease Hypertrophic Cardiomyopathy and Infammation | January 27, 2023 | January 10, 2025 | |
| NCT06065852 | Recruiting | National Registry of Rare Kidney Diseases | November 6, 2009 | December 31, 2039 | |
| NCT06081062 | Recruiting | Phase 3 | Evaluate the Safety and Efficacy of Fabagal® (Agalsidase Beta) in Patients With Fabry Disease | April 14, 2023 | December 2025 |
| NCT04639999 | Recruiting | Impact of MIgalastat TheRApy on CaRdiac Function in patiEnts With Fabry's Cardiomyopathy (MIRACRE-Fabry Trial) | November 5, 2020 | April 2025 | |
| NCT06095713 | Recruiting | German Observational Multicenter Study of Patients With Fabry Disease Under Enzyme Replacement Therapy With Pegunigalsidase-alfa | October 1, 2023 | March 31, 2026 | |
| NCT03886714 | Recruiting | Screening for Fabry Disease in Renal Transplantation | March 25, 2019 | March 31, 2026 | |
| NCT06114329 | Recruiting | Phase 2 | Study of the Safety and Biologic Activity of AL01211 in Treatment Naive Males With Classic Fabry Disease | October 25, 2023 | June 2026 |
| NCT03683966 | Recruiting | MigALastat Therapy Adherence Among FABRY Patients: A Prospective Multicentral Observational Study | October 27, 2017 | December 31, 2023 | |
| NCT05280548 | Recruiting | Phase 3 | A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease | May 3, 2022 | July 15, 2027 |
| NCT03362164 | Recruiting | Evaluation of HEArt invoLvement in Patients With FABRY Disease | January 2001 | March 2032 | |
| NCT05409846 | Recruiting | Screening of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies | April 15, 2022 | April 15, 2025 | |
| NCT05923788 | Recruiting | N/A | T1 Mapping in Fabry Disease | August 7, 2023 | August 7, 2025 |
| NCT05413876 | Recruiting | Fabry Exercise Intolerance Study | October 10, 2021 | January 2, 2024 | |
| NCT05473637 | Recruiting | Taiwan Associated Genetic and Nongenetic Small Vessel Disease | January 1, 2019 | December 31, 2026 | |
| NCT06007768 | Recruiting | Autoimmune and Inflammatory Response Biomarkers in Fabry Disease | September 20, 2022 | December 31, 2023 | |
| NCT04856059 | Recruiting | N/A | Fabry Cardiomyopathy: Identification of Early Myocardial Structural and Tissue Abnormalities Using Multiparametric MRI | June 15, 2021 | December 31, 2026 |
| NCT04020055 | Recruiting | Phase 3 | A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease | October 31, 2022 | December 31, 2025 |
| NCT06169358 | Recruiting | Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy | October 1, 2023 | September 1, 2024 | |
| NCT00455104 | Recruiting | Canadian Fabry Disease Initiative (CFDI) National Registry | January 2007 | October 2029 | |
| NCT06257901 | Recruiting | A Co-designed Physical Activity Intervention in Fabry Disease | February 5, 2024 | September 30, 2024 | |
| NCT05710692 | Recruiting | Phase 2/Phase 3 | Study to Evaluate the Safety, PK, PD, and Efficacy of PRX-102 in Japanese Patients With Fabry Disease | August 1, 2023 | March 2028 |
| NCT06270316 | Recruiting | Phase 1/Phase 2 | Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease | May 31, 2024 | April 29, 2027 |
| NCT05699265 | Recruiting | Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing | February 1, 2023 | March 2028 | |
| NCT05843916 | Recruiting | Phase 3 | Switch Over Study of Biosimilar AGA for Fabry Disease | December 13, 2022 | December 1, 2023 |
| NCT05206773 | Recruiting | Phase 3 | A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease | March 11, 2022 | July 8, 2026 |
| NCT03321604 | Terminated | Kidney Information Network for Disease Research and Education | January 1, 2018 | November 21, 2019 | |
| NCT00526071 | Terminated | Phase 2 | Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study | September 17, 2007 | September 8, 2012 |
| NCT04840667 | Terminated | Phase 3 | A Study of Replagal in Treatment-naïve Adults With Fabry Disease | December 28, 2021 | December 16, 2022 |
| NCT00149318 | Terminated | Enzyme Replacement Therapy in Fabry Disease | December 2002 | November 2014 | |
| NCT00230607 | Terminated | Phase 4 | Study of the Effects of Fabrazyme Treatment on Lactation and Infants | May 28, 2006 | February 9, 2024 |
| NCT01839526 | Terminated | Phase 1 | A Study of Renal Function in Treatment-naïve, Young Male Patients With Fabry Disease | May 2013 | September 2016 |
| NCT00837824 | Terminated | Phase 2 | Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme | December 2002 | August 2003 |
| NCT04040049 | Terminated | Phase 1/Phase 2 | A Fabry Disease Gene Therapy Study | July 8, 2019 | May 2, 2023 |
| NCT03454893 | Terminated | Phase 1/Phase 2 | Open Label, Study Of Efficacy and Safety Of AVR-RD-01 for Treatment-Naive Subjects With Classic Fabry Disease | February 21, 2018 | March 14, 2022 |
| NCT01458119 | Terminated | Phase 3 | Open-Label Phase 3 Long-Term Safety Study of Migalastat | October 14, 2011 | February 17, 2016 |
| NCT04999059 | Terminated | Long-Term Follow-up Study of Subjects With Fabry Disease Who Received Lentiviral Gene Therapy in Study AVRO-RD-01-201 | May 8, 2019 | August 16, 2023 | |
| NCT04758130 | Unknown status | N/A | Getting Global Rare Disease Insights Through Technology Study | August 7, 2020 | November 30, 2021 |
| NCT01304875 | Unknown status | Pulmonary Disease and Exercise Tolerance in Boys With Fabry Disease | April 2010 | ||
| NCT04025801 | Unknown status | Heidelberg In Vivo Confocal Microscopy to Evaluate the Ocular Surface Disorders of Healthy and Diseased Individuals | July 31, 2019 | June 2020 | |
| NCT00871611 | Unknown status | Viennese Prevalence Study of Anderson-Fabry Disease | January 2009 | January 2012 | |
| NCT04184986 | Unknown status | Screening of Fabry Disease in Patients With GI Symptoms | September 1, 2019 | December 1, 2020 | |
| NCT00487630 | Unknown status | Phase 4 | Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease | June 2005 | June 2009 |
| NCT03596398 | Unknown status | Epidemiological Study of Fabry Disease in Taiwan Young Stroke Patients | January 1, 2016 | January 31, 2022 | |
| NCT01695161 | Unknown status | Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer. | September 2012 | ||
| NCT04893889 | Unknown status | N/A | Substudy (NCT04456582): Noninvasive Assessment of Myocardial Stiffness by 2D-SWE Ultrasound Technique (Two-dimensional Shear Wave Elastography) in Patients With Amyloidosis and Fabry Disease. | September 9, 2020 | March 30, 2022 |
| NCT02120235 | Unknown status | Investigating Lysosomal Storage Diseases in Minority Groups | February 2014 | December 2018 | |
| NCT05056636 | Unknown status | Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients | June 1, 2018 | December 31, 2022 | |
| NCT02649660 | Unknown status | Lipidomics and Functional Analyses of Platelets in Fabry Disease | October 2015 | December 31, 2017 | |
| NCT02843334 | Unknown status | Study of the Prevalence of Fabry Disease in French Dialysis Patients | May 2016 | May 2017 | |
| NCT02859363 | Unknown status | Fabry Disease in Cerebrovascular Disease | March 2016 | August 2017 | |
| NCT02994303 | Unknown status | Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy | September 2014 | August 2019 | |
| NCT03123523 | Unknown status | Study of the Relation Between Lipid Myocardial Overload Evaluated by Cardiac Magnetic Resonance Imaging (MRI), Alteration of Longitudinal Myocardial Deformations by Echocardiography, and Clinical Achievements (Functional, Biological and Electrical) in Fabry Disease, and Its Outcomes. | October 18, 2016 | April 18, 2020 | |
| NCT03199001 | Unknown status | Native T1 Mapping by Cardiovascular Magnetic Resonance Imaging in Rare Diseases | February 19, 2015 | February 19, 2019 | |
| NCT03228940 | Withdrawn | Phase 1/Phase 2 | Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease | November 22, 2022 | November 22, 2022 |
| NCT01588314 | Withdrawn | Phase 2 | Safety and Efficacy of Gabapentin for Neuropathic Pain in Fabry Disease | April 2012 | June 2014 |
| NCT03145779 | Withdrawn | Evaluation of Phenotypic Variability in Fabry Disease | July 2020 | July 2030 | |
| NCT02921620 | Withdrawn | Phase 3 | Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease | July 2017 | July 2018 |
| NCT00312767 | Withdrawn | Phase 4 | A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. | April 2006 | |
| NCT04965467 | Withdrawn | Fabry Aim Children Early (ACE) Project | July 27, 2021 | February 28, 2022 | |
| NCT04189601 | Withdrawn | Complement Activation in the Lysosomal Storage Disorders | September 30, 2020 | April 30, 2021 | |
| NCT04143958 | Withdrawn | Phase 4 | 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 | September 2020 | November 2023 |
- Disase is a (Disease Ontology)
- DOID:1927
- Cross Reference ID (Disease Ontology)
- GARD:6400
- Cross Reference ID (Disease Ontology)
- ICD10CM:E75.21
- Cross Reference ID (Disease Ontology)
- MESH:D000795
- Cross Reference ID (Disease Ontology)
- MIM:301500
- Cross Reference ID (Disease Ontology)
- NCI:C84701
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:16652001
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0002986
- Exact Synonym (Disease Ontology)
- alpha galactosidase deficiency
- Exact Synonym (Disease Ontology)
- Alpha-galactosidase A deficiency
- Exact Synonym (Disease Ontology)
- Angiokeratoma Corporis Diffusum
- Exact Synonym (Disease Ontology)
- deficiency of melibiase
- Exact Synonym (Disease Ontology)
- Fabry Disease, Cardiac Variant
- Exact Synonym (Disease Ontology)
- Fabry's disease
- OrphaNumber from OrphaNet (Orphanet)
- 324
- MeSH unique ID (MeSH (Medical Subject Headings))
- D000795