Evaluation of HEArt invoLvement in Patients With FABRY Disease

NCT ID: NCT03362164

Last Updated: 2022-07-07

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

650 participants

Study Classification

OBSERVATIONAL

Study Start Date

2001-01-31

Study Completion Date

2032-03-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Rare Diseases Fabry Disease Fabry Disease, Cardiac Variant Hypertrophic Cardiomyopathy

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

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

Exclusion Criteria

* No informed consent
* Withdrawal of informed consent
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Competence Network Heart Failure

OTHER

Sponsor Role collaborator

Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

OTHER

Sponsor Role collaborator

St George's, University of London

OTHER

Sponsor Role collaborator

Wuerzburg University Hospital

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

PD Dr. Peter Nordbeck

Head Consultant Cardiology and Chief of Electrophysiology

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Peter Nordbeck, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Wuerzburg University Hospital

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Wuerzburg University Hospital

Würzburg, Bavaria, Germany

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

Germany

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Peter Nordbeck, MD, PhD

Role: CONTACT

004993120139181

Jonas Muentze, MD

Role: CONTACT

004993120139958

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Irina Schumacher

Role: primary

004993120139714

References

Explore related publications, articles, or registry entries linked to this study.

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.

Reference Type RESULT
PMID: 27059467 (View on PubMed)

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.

Reference Type RESULT
PMID: 27247331 (View on PubMed)

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.

Reference Type RESULT
PMID: 27265676 (View on PubMed)

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.

Reference Type RESULT
PMID: 28682471 (View on PubMed)

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.

Reference Type RESULT
PMID: 29018006 (View on PubMed)

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.

Reference Type RESULT
PMID: 29161295 (View on PubMed)

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.

Reference Type DERIVED
PMID: 35212486 (View on PubMed)

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.

Reference Type DERIVED
PMID: 30018776 (View on PubMed)

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.

Reference Type DERIVED
PMID: 29797054 (View on PubMed)

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

FAZiT-2001

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

The SMARTER Cardiomyopathy Study
NCT05750147 RECRUITING
Transthyretin Cardiac Amyloidosis in HFpEF
NCT03414632 COMPLETED EARLY_PHASE1
Sahlgrenska Cardiomyopathy Project
NCT03527342 ENROLLING_BY_INVITATION