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Rare DiseasesHEAL-FABRYNCT03362164

Evaluation of HEArt invoLvement in Patients With FABRY Disease

An observational study of Rare Diseases and Fabry Disease, run by Wuerzburg University Hospital at 1 site in Germany.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial 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 more about this study

Who is it for?
Ages 18 years and older
How many people
650 participants
Where
1 siteGermany
Study dates
Jan 2001to Mar 2032
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 18 years and older
  • All sexes
  • Adult, Older adult

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

Who may be able to join

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

Who cannot join

  • No informed consent
  • Withdrawal of informed consent

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Peter Nordbeck, MD, PhD contact

004993120139181

nordbeck_p@ukw.de

Jonas Muentze, MD contact

004993120139958

muentze_j@ukw.de

Germany1 site, 1 recruiting

  • Wuerzburg University Hospital

    Würzburg, Bavaria, 97080

    Irina Schumacher, 004993120139714, schumacher_i@ukw.de

    Recruiting

Other trials in Germany

About this study

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

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.

Keywords
Fabry, Fibrosis, Dialysis, Stroke, Chronic kidney disease
Medical subject headings
Rare Diseases, Fabry Disease, Fabry Disease, Cardiac Variant, Cardiomyopathy, Hypertrophic, Fibrosis, Stroke, Renal Insufficiency, Chronic

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Cardiac death

    Patients sustaining cardiac death

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

Secondary outcomes (2)

  1. Heart transplantation

    On the basis of severe cardiac damage heart transplantation is needed

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

  2. Malign Arrhythmias

    Patients suffering any malign arrhythmias

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

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted5 Dec 2017
  2. Study startJan 2001
  3. Primary completionMar 2032 (estimated)
  4. Study completionMar 2032 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
650 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT03362164
Sponsor's protocol ID
FAZiT-2001
Acronym
HEAL-FABRY
Status last verified
Jul 2022
First submitted
29 Nov 2017
Last updated
7 Jul 2022
Results posted
No
Data monitoring committee
No

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

Questions about this trial

What is this clinical trial studying?

An observational study of Rare Diseases and Fabry Disease, run by Wuerzburg University Hospital at 1 site in Germany.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 7 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Peter Nordbeck, MD, PhD (004993120139181, nordbeck_p@ukw.de), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Cardiac death (time frame: From date of inclusion until the date of first documented event, up to the year 2032). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT03362164, which also lists 10 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Jul 2022.

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