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| Name | Class |
|---|---|
| Competence Network Heart Failure | OTHER |
| Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) | OTHER |
| St George's, University of London | OTHER |
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This study evaluates predictors for the incidence of arrhythmias and sudden cardiac death as well as terminal heart failure in patients with Fabry disease.
Fabry disease is a rare disease and part of the group of lysosomal storage disorders. Natural history of Fabry disease has proven poor survival to ages >50 years outlining the importance to evaluate cardiac symptoms and outcomes of patients with Fabry disease.
This study is a prospective cohort study and observes patients since 2001. Through this long-term experience and the relative high number of patients this study is suggested to help estimating the risk of cardiac arrhythmias and sudden cardiac death (SCD) as well as death or heart transplantation due to terminal heart failure.
All patients in treatment in the Fabry Center Wuerzburg (FAZiT) are included in this study if informed consent is provided.
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| Measure | Description | Time Frame |
|---|---|---|
| Cardiac death | Patients sustaining cardiac death | From date of inclusion until the date of first documented event, up to the year 2032 |
| Measure | Description | Time Frame |
|---|---|---|
| Heart transplantation | On the basis of severe cardiac damage heart transplantation is needed | From date of inclusion until the date of first documented event, up to the year 2032 |
| Malign Arrhythmias |
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Inclusion Criteria:
Exclusion Criteria:
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The study population includes every patient with Fabry disease who is seen in the FAZiT Wuerzburg. No limitations are made.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Peter Nordbeck, MD, PhD | Contact | 004993120139181 | nordbeck_p@ukw.de | |
| Jonas Muentze, MD | Contact | 004993120139958 | muentze_j@ukw.de |
| Name | Affiliation | Role |
|---|---|---|
| Peter Nordbeck, MD, PhD | Wuerzburg University Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Wuerzburg University Hospital | Recruiting | Würzburg | Bavaria | 97080 | Germany |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 27059467 | Result | Oder D, Uceyler N, Liu D, Hu K, Petritsch B, Sommer C, Ertl G, Wanner C, Nordbeck P. Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y. BMJ Open. 2016 Apr 8;6(4):e010422. doi: 10.1136/bmjopen-2015-010422. | |
| 27247331 | Result | Seydelmann N, Liu D, Kramer J, Drechsler C, Hu K, Nordbeck P, Schneider A, Stork S, Bijnens B, Ertl G, Wanner C, Weidemann F. High-Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease. J Am Heart Assoc. 2016 May 31;5(6):e002839. doi: 10.1161/JAHA.115.002839. |
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| ID | Term |
|---|---|
| D035583 | Rare Diseases |
| D000795 | Fabry Disease |
| C567062 | Fabry Disease, Cardiac Variant |
| D002312 | Cardiomyopathy, Hypertrophic |
| D005355 | Fibrosis |
| D020521 | Stroke |
| D051436 | Renal Insufficiency, Chronic |
| ID | Term |
|---|---|
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D013106 | Sphingolipidoses |
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ECG, Holter ECG, Echo, Cardiac MRI, Endomyocardial Biopsy, Kidney Biopsy, Cranial MRI, Skin Biopsy, EDTA Blood, Serum, Plasma, Urine
Patients suffering any malign arrhythmias
| From date of inclusion until the date of death, up to the year 2032 |
| 27265676 | Result | Weidemann F, Maier SK, Stork S, Brunner T, Liu D, Hu K, Seydelmann N, Schneider A, Becher J, Canan-Kuhl S, Blaschke D, Bijnens B, Ertl G, Wanner C, Nordbeck P. Usefulness of an Implantable Loop Recorder to Detect Clinically Relevant Arrhythmias in Patients With Advanced Fabry Cardiomyopathy. Am J Cardiol. 2016 Jul 15;118(2):264-74. doi: 10.1016/j.amjcard.2016.04.033. Epub 2016 May 5. |
| 28682471 | Result | Lenders M, Oder D, Nowak A, Canaan-Kuhl S, Arash-Kaps L, Drechsler C, Schmitz B, Nordbeck P, Hennermann JB, Kampmann C, Reuter S, Brand SM, Wanner C, Brand E. Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease. J Intern Med. 2017 Sep;282(3):241-253. doi: 10.1111/joim.12647. Epub 2017 Jul 26. |
| 29018006 | Result | Oder D, Liu D, Hu K, Uceyler N, Salinger T, Muntze J, Lorenz K, Kandolf R, Grone HJ, Sommer C, Ertl G, Wanner C, Nordbeck P. alpha-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease. Circ Cardiovasc Genet. 2017 Oct;10(5):e001691. doi: 10.1161/CIRCGENETICS.116.001691. |
| 29161295 | Result | Koping M, Shehata-Dieler W, Cebulla M, Rak K, Oder D, Muntze J, Nordbeck P, Wanner C, Hagen R, Schraven S. Cardiac and renal dysfunction is associated with progressive hearing loss in patients with Fabry disease. PLoS One. 2017 Nov 21;12(11):e0188103. doi: 10.1371/journal.pone.0188103. eCollection 2017. |
| 42004908 | Derived | Lau K, Liu D, Sokalski V, Gram M, Hu K, Lang A, Wanner C, Sommer C, Uceyler N, Nordbeck P. Intraepidermal nerve fiber density as a predictor of cardiac events in Fabry disease. Eur Heart J Open. 2026 Mar 6;6(2):oeag042. doi: 10.1093/ehjopen/oeag042. eCollection 2026 Mar. |
| 35212486 | Derived | Lau K, Uceyler N, Cairns T, Lorenz L, Sommer C, Schindehutte M, Amann K, Wanner C, Nordbeck P. Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly). Mol Genet Genomic Med. 2022 May;10(5):e1912. doi: 10.1002/mgg3.1912. Epub 2022 Feb 25. |
| 30018776 | Derived | Liu D, Oder D, Salinger T, Hu K, Muntze J, Weidemann F, Herrmann S, Ertl G, Wanner C, Frantz S, Stork S, Nordbeck P. Association and diagnostic utility of diastolic dysfunction and myocardial fibrosis in patients with Fabry disease. Open Heart. 2018 Jul 12;5(2):e000803. doi: 10.1136/openhrt-2018-000803. eCollection 2018. |
| 29797054 | Derived | Liu D, Hu K, Schmidt M, Muntze J, Maniuc O, Gensler D, Oder D, Salinger T, Weidemann F, Ertl G, Frantz S, Wanner C, Nordbeck P. Value of the CHA2DS2-VASc score and Fabry-specific score for predicting new-onset or recurrent stroke/TIA in Fabry disease patients without atrial fibrillation. Clin Res Cardiol. 2018 Dec;107(12):1111-1121. doi: 10.1007/s00392-018-1285-4. Epub 2018 May 24. |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
| D009202 | Cardiomyopathies |
| D006331 | Heart Diseases |
| D001020 | Aortic Stenosis, Subvalvular |
| D001024 | Aortic Valve Stenosis |
| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |
| D051437 | Renal Insufficiency |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D002908 | Chronic Disease |