NCT05759260

Brief Summary

QT interval prolongation occurs in athletes and causes concerns, as it may indicate the life-threatening long QT syndrome (LQTS). Clinical and genetic testing identify those clearly affected by LQTS but in many no disease-causing mutations are found and diagnosis remains uncertain while they are barred from competitive sports. The investigators hypothesize that several cases represent an acquired form of LQTS, akin to drug-induced LQTS, caused by exercise training acting as a trigger or "second hit" on a genetic predisposition. The investigators will use next generation sequencing to screen major and minor LQTS genes plus common and rare variants modulating the QT interval in athletes with a QTc\>450ms (cases) and in those with a QTc\<430ms (controls). Thus, the investigators will quantify the presence of LQTS in athletes and will also focus on those who normalize their QTc after detraining, as this points to activation of stretch-receptors. The investigators will clarify QT prolongation in athletes and contribute to correct diagnosis.

Trial Health

87
On Track

Trial Health Score

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

Enrollment
869

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Dec 2018

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

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 Start

First participant enrolled

December 5, 2018

Completed
4.2 years until next milestone

First Submitted

Initial submission to the registry

February 21, 2023

Completed
15 days until next milestone

First Posted

Study publicly available on registry

March 8, 2023

Completed
27 days until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 4, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 4, 2023

Completed
Last Updated

September 29, 2023

Status Verified

September 1, 2023

Enrollment Period

4.3 years

First QC Date

February 21, 2023

Last Update Submit

September 28, 2023

Conditions

QT Prolongation

Keywords

QT intervalGeneticsLong QT syndrome

Outcome Measures

Primary Outcomes (1)

  • Genetic differences

    Quantification of MCs and non-mutation carriers (NMCs) among the young athletes with a QTc\> 450 ms to define the LQTS prevalence in athletes and to identify an adequate cut-off for likely pathological QTc prolongation in athletes.

    At enrolment

Secondary Outcomes (1)

  • Predisposition to QT prolongation

    At enrolment

Study Arms (2)

Cases

Athletes with QT interval prolongation

Other: Observation

Controls

Athletes without QT interval prolongation

Other: Observation

Interventions

ObservationOTHER

Observation

CasesControls

Eligibility Criteria

Sexall
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Athletes

You may qualify if:

  • Athletes
  • QTc interval \> 450 msec (cases) or \< 430 msec (controls)

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Istituto Auxologico Italiano - Center for Cardiac Arrhythmias of Genetic Origin

Milan, 20135, Italy

Location

Related Publications (4)

  • Schwartz PJ, Ackerman MJ. The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy. Eur Heart J. 2013 Oct;34(40):3109-16. doi: 10.1093/eurheartj/eht089. Epub 2013 Mar 18.

    PMID: 23509228BACKGROUND

  • Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M. The genetics underlying acquired long QT syndrome: impact for genetic screening. Eur Heart J. 2016 May 7;37(18):1456-64. doi: 10.1093/eurheartj/ehv695. Epub 2015 Dec 28.

    PMID: 26715165BACKGROUND

  • Schwartz PJ, Woosley RL. Predicting the Unpredictable: Drug-Induced QT Prolongation and Torsades de Pointes. J Am Coll Cardiol. 2016 Apr 5;67(13):1639-1650. doi: 10.1016/j.jacc.2015.12.063.

    PMID: 27150690BACKGROUND

  • Peyronnet R, Nerbonne JM, Kohl P. Cardiac Mechano-Gated Ion Channels and Arrhythmias. Circ Res. 2016 Jan 22;118(2):311-29. doi: 10.1161/CIRCRESAHA.115.305043.

    PMID: 26838316BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

DNA

MeSH Terms

Conditions

Long QT Syndrome

Interventions

Observation

Condition Hierarchy (Ancestors)

Arrhythmias, CardiacHeart DiseasesCardiovascular DiseasesCardiac Conduction System DiseaseHeart Defects, CongenitalCardiovascular AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

MethodsInvestigative Techniques

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 21, 2023

First Posted

March 8, 2023

Study Start

December 5, 2018

Primary Completion

April 4, 2023

Study Completion

April 4, 2023

Last Updated

September 29, 2023

Record last verified: 2023-09

Data Sharing

IPD Sharing
Will not share

Locations

IT(1)