NCT03362164

Brief Summary

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

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
650

participants targeted

Target at P75+ for all trials

Timeline
70mo left

Started Jan 2001

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress81%
Jan 2001Mar 2032

Study Start

First participant enrolled

January 1, 2001

Completed
16.9 years until next milestone

First Submitted

Initial submission to the registry

November 29, 2017

Completed
6 days until next milestone

First Posted

Study publicly available on registry

December 5, 2017

Completed
14.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 1, 2032

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2032

Last Updated

July 7, 2022

Status Verified

July 1, 2022

Enrollment Period

31.2 years

First QC Date

November 29, 2017

Last Update Submit

July 6, 2022

Conditions

Rare DiseasesFabry DiseaseFabry Disease, Cardiac VariantHypertrophic Cardiomyopathy

Keywords

FabryFibrosisDialysisStrokeChronic kidney disease

Outcome Measures

Primary Outcomes (1)

  • Cardiac death

    Patients sustaining cardiac death

    From date of inclusion until the date of first documented event, up to the year 2032

Secondary Outcomes (2)

  • Heart transplantation

    From date of inclusion until the date of first documented event, up to the year 2032

  • Malign Arrhythmias

    From date of inclusion until the date of death, up to the year 2032

Eligibility Criteria

Age18 Years+
Sexall
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

The study population includes every patient with Fabry disease who is seen in the FAZiT Wuerzburg. No limitations are made.

You may qualify if:

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

You may not qualify if:

  • No informed consent
  • Withdrawal of informed consent

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Wuerzburg University Hospital

Würzburg, Bavaria, 97080, Germany

RECRUITING

Related Publications (9)

  • 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: 27059467RESULT

  • 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: 27247331RESULT

  • 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: 27265676RESULT

  • 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: 28682471RESULT

  • 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: 29018006RESULT

  • 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: 29161295RESULT

  • 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: 35212486DERIVED

  • 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.

    PMID: 30018776DERIVED

  • 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.

    PMID: 29797054DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

ECG, Holter ECG, Echo, Cardiac MRI, Endomyocardial Biopsy, Kidney Biopsy, Cranial MRI, Skin Biopsy, EDTA Blood, Serum, Plasma, Urine

MeSH Terms

Conditions

Rare DiseasesFabry DiseaseFabry Disease, Cardiac VariantCardiomyopathy, HypertrophicFibrosisStrokeRenal Insufficiency, Chronic

Condition Hierarchy (Ancestors)

Disease AttributesPathologic ProcessesPathological Conditions, Signs and SymptomsSphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism DisordersCardiomyopathiesHeart DiseasesAortic Stenosis, SubvalvularAortic Valve StenosisAortic Valve DiseaseHeart Valve DiseasesRenal InsufficiencyKidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesChronic Disease

Study Officials

  • Peter Nordbeck, MD, PhD

    Wuerzburg University Hospital

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Peter Nordbeck, MD, PhD

CONTACT

004993120139181nordbeck_p@ukw.de

Jonas Muentze, MD

CONTACT

004993120139958muentze_j@ukw.de

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Head Consultant Cardiology and Chief of Electrophysiology

Study Record Dates

First Submitted

November 29, 2017

First Posted

December 5, 2017

Study Start

January 1, 2001

Primary Completion (Estimated)

March 1, 2032

Study Completion (Estimated)

March 1, 2032

Last Updated

July 7, 2022

Record last verified: 2022-07

Locations

DE(1)