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RecruitingNCT03362164HEAL-FABRYUpdated Jul 7, 2022

Evaluation of HEArt invoLvement in Patients With FABRY Disease

An observational study in Rare Diseases, Fabry Disease and Fabry Disease, Cardiac Variant, sponsored by Wuerzburg University Hospital. Recruiting at 1 site in Germany. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2022-07-07.

Sponsored by Wuerzburg University Hospital · Observational

From the registry’s dates

  • Started Jan 2001; still recruiting 25 years 9 months later.
Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
650
Ages
18 Years and older
Sex
All
01

Study 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.

Read the 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.

02

Conditions studied

  • Rare Diseases
  • Fabry Disease
  • Fabry Disease, Cardiac Variant
  • Hypertrophic Cardiomyopathy

Keywords

  • Fabry
  • Fibrosis
  • Dialysis
  • Stroke
  • Chronic kidney disease
03

In context

Rare Diseases

208 studies on the registry are indexed under Rare Diseases; 112 are open to participants now.

This study's planned enrollment of 650 is above the median of 200 across 127 observational studies indexed under Rare Diseases.

Browse Rare Diseases studies →

Lead sponsor

Wuerzburg University Hospital is the lead sponsor of 98 studies on the registry; 19 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Sampling method
Non-probability sample

Study population

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

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

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

Exclusion criteria

Exclusion Criteria:

  • No informed consent
  • Withdrawal of informed consent
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
650 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna
06

What researchers measure

Primary outcomes

  1. Cardiac death

    Patients sustaining cardiac death

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

Secondary outcomes

  1. Heart transplantation

    On the basis of severe cardiac damage heart transplantation is needed

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

  2. Malign Arrhythmias

    Patients suffering any malign arrhythmias

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

07

Study locations

1 of 1 sites recruiting
  • Wuerzburg University Hospital
    Würzburg, Bavaria 97080, Germany
    Recruiting
08

References and documents

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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 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. PubMed 35212486 ↗
  • 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. PubMed 30018776 ↗
  • 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. PubMed 29797054 ↗
09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jul 7, 2022, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT03362164
Lead sponsor
Wuerzburg University Hospital
Responsible party
PD Dr. Peter Nordbeck (Head Consultant Cardiology and Chief of Electrophysiology, Wuerzburg University Hospital) — Principal investigator
First posted
Dec 5, 2017
Start date
Jan 2001
Primary completion
Mar 2032 (estimated)
Completion
Mar 2032 (estimated)
Last update
Jul 7, 2022

Study contacts

Peter Nordbeck, MD, PhD
Contact
nordbeck_p@ukw.de
004993120139181
Jonas Muentze, MD
Contact
muentze_j@ukw.de
004993120139958
Peter Nordbeck, MD, PhD
principal investigator · Wuerzburg University Hospital

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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