Clinical trial NCT03572569: Risk Stratification in Children and Adolescents With Primary Cardiomyopathy
Official title: Risk Stratification in Children and Adolescents With Primary Cardiomyopathy
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Primary Cardiomyopathy
Dilated Cardiomyopathy
Hypertrophic Cardiomyopathy
Left Ventricular Noncompaction
Restrictive Cardiomyopathy
Arrhythmogenic Right Ventricular Cardiomyopathy
Keywords: Pediatrics
Cardiomyopathy
Heart failure
Risk stratification
Family screening
Genetics
Lead sponsor: German Heart Institute
Sponsor class: OTHER
Collaborators: name: Deutsches Zentrum für Herz-Kreislauf-Forschung (DZHK)
First posted: 2018-06-28
Enrollment: 200
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Department of pediatric cardiology including outpatient department

Brief summary: RIKADA is a prospective study performing systematic family screening including clinical and genetic testing in pediatric patients with primary cardiomyopathy and their first-degree relatives with the aim to facilitate risk stratification.

Detailed description: RIKADA is a long-term prospective study performing in-depth phenotype and genotype characterization in children and adolescents with primary cardiomyopathy and their first-degree family members. Family screening contains complete cardiac work-up with medical history, physical examination, 12-lead-/Holter-electrocardiogram, cardiopulmonary exercise testing, echocardiography, cardiovascular magnetic resonance (CMR) and laboratory including genetic testing. The aim is to facilitate early identification of at-risk individuals and contribute to patient-specific follow-up and therapy regimes preventing progressive heart failure and arrhythmia in pediatric CMP.

Eligibility criteria: Inclusion Criteria:

1. Index patients:

   * Age ≤18 years
   * written informed consent of parents/legal guardians
   * diagnosis of primary cardiomypathy:
   * DCM: left ventricular (LV) systolic dysfunction and dilatation greater than two standard deviations (SD) above the mean of a normal population
   * HCM: LV hypertrophy and septal wall thickness above two SD
   * RCM: diastolic dysfunction and concordant atrial enlargement
   * LVNC: separation of the myocardium into a compacted (C) and a non- compacted (NC) layer with an NC/C ratio \>2 in echocardiography and/or \>2.3 in CMR
   * ARVC: according to the revised Task Force Criteria
2. First-degree family members (parents and siblings):

   * Age ≥3 years
   * written informed consent of parents/legal guardians and siblings ≥18 years

Exclusion Criteria:

* unwillingness to give consent
* myocardial inflammation / myocarditis
* systemic disease with cardiac involvement (secondary cardiomyopathy)
* structural congenital heart disease

Primary outcomes:
measure: major cardiovascular events
timeFrame: from date of enrollment until the date of death, mechanical circulatory support or heart transplantation, assessed up to 8 years
Secondary outcomes:
Other outcomes:
Locations:
city: Berlin
country: Germany
facility: Charité - Universitätsmedizin Berlin
city: Berlin
country: Germany
facility: German Heart Institute
Study officials:
affiliation: German Heart Institute
name: Felix Berger, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Charite University, Berlin, Germany
name: Sabine Klaassen, MD
role: STUDY_DIRECTOR
References:
citation: Al-Wakeel-Marquard N, Seidel F, Kuhnisch J, Kuehne T, Berger F, Messroghli DR, Klaassen S. Midwall Fibrosis and Cardiac Mechanics: Rigid Body Rotation Is a Novel Marker of Disease Severity in Pediatric Primary Dilated Cardiomyopathy. Front Cardiovasc Med. 2022 Feb 17;8:810005. doi: 10.3389/fcvm.2021.810005. eCollection 2021.
citation: Al-Wakeel-Marquard N, Degener F, Herbst C, Kuhnisch J, Dartsch J, Schmitt B, Kuehne T, Messroghli D, Berger F, Klaassen S. RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. J Am Heart Assoc. 2019 Aug 6;8(15):e012531. doi: 10.1161/JAHA.119.012531. Epub 2019 Jul 23.