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Recruiting NCT03362164

Evaluation of HEArt invoLvement in Patients With FABRY Disease

— Observational Rare Diseases Fabry Disease Fabry Disease, Cardiac Variant Hypertrophic Cardiomyopathy

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Rare Diseases, Fabry Disease, Fabry Disease, Cardiac Variant, Hypertrophic Cardiomyopathy. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Germany
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Prospective Monocentric Cohort Study to Evaluate Predictors for Heart Failure and Sudden Cardiac Death in Patients With Fabry Disease

Overview

This study evaluates predictors for the incidence of arrhythmias and sudden cardiac death as well as terminal heart failure in patients with Fabry disease.

Detailed description

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.

Primary outcome measures

  • Cardiac death [Time frame: From date of inclusion until the date of first documented event, up to the year 2032]
Secondary outcome measures (2)
  • Heart transplantation [Time frame: From date of inclusion until the date of first documented event, up to the year 2032]
  • Malign Arrhythmias [Time frame: From date of inclusion until the date of death, up to the year 2032]

Eligibility criteria

Inclusion criteria

  • Fabry disease (genetically confirmed)
  • Signed informed consent
  • 18 years and older

Exclusion criteria

  • No informed consent
  • Withdrawal of informed consent

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Study design

Observational model
Cohort

Study locations

Germany · 1 center
  • Wuerzburg University Hospital — Würzburg

Publications

  • 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. PMID 27059467
  • 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. PMID 27247331
  • 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. PMID 27265676
  • 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. PMID 28682471
  • 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. PMID 29018006
  • 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. PMID 29161295
  • 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. PMID 42004908
  • 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. PMID 35212486

Identifiers

NCT: NCT03362164 · FAZiT-2001

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗