PRecIsion Medicine in CardiomyopathY

NCT04036799 | Active Not Recruiting Results

• 1 other identifier: 1000055819
• Study Type: observational
• Target: 572
• Locations: 0 countries
• Sites: N/A

Brief Summary

This is a retrospective cohort study of pediatric hypertrophic cardiomyopathy (HCM) patients using chart and registry review methodology. The studies objective is to develop and validate a sudden cardiac death (SCD) risk calculator that is age-appropriate for children with HCM that includes clinical and genetic factors.

Conditions

Hypertrophic Cardiomyopathy; Sudden Cardiac Death

Keywords

Pediatric; Risk Prediction

Outcome Measures

Primary Outcomes (1)

• Number of Participants With a Composite Sudden Cardiac Death Event

  The composite SCD event includes post diagnosis SCD, aborted SCD (including ventricular fibrillation, sustained ventricular tachycardia), primary ICD insertion with appropriate shock, secondary ICD insertion

  Time to a composite sudden cardiac death event during 5-year follow-up

Study Arms (1)

Hypertrophic Cardiomyopathy

Eligibility Criteria

• Age: 0 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Individuals meeting eligibility criteria at first presentation were included.

You may qualify if:

• phenotype-positive patients diagnosed with hypertrophic cardiomyopathy
• phenotype-negative, genotype positive patients considered at risk for developing hypertrophic cardiomyopathy

You may not qualify if:

• Neuromuscular, metabolic, syndromic (other than Noonan Syndrome and related RAS-opathies) or endocrine (including infants of diabetic mothers) causes of HCM
• (Other treatable causes of left ventricular hypertrophy (systemic hypertension, anatomic defects causing left ventricular outflow tract obstruction e.g. aortic stenosis, subAS, subaortic membrane, coarctation)

Sponsors & Collaborators

• The Hospital for Sick Children: lead
• Stanford University: collaborator
• Children's Hospital of Philadelphia: collaborator
• New York Presbyterian Hospital: collaborator
• University of Texas Southwestern Medical Center: collaborator
• University of Michigan: collaborator
• Children's Hospital Medical Center, Cincinnati: collaborator
• Provincial Health Services Authority British Columbia: collaborator
• Stollery Children's Hospital: collaborator
• Children's Hospital of Eastern Ontario: collaborator
• Royal Children's Hospital: collaborator
• Children's Healthcare of Atlanta: collaborator
• Primary Children's Hospital: collaborator
• Baylor College of Medicine: collaborator
• The Cleveland Clinic: collaborator
• Monroe Carell Jr. Children's Hospital at Vanderbilt: collaborator
• Children's Hospital Colorado: collaborator
• Indiana University Health: collaborator
• OHSU Doernbecher Children's Hospital: collaborator
• Children's Hospital Los Angeles: collaborator

Related Publications (1)

• Miron A, Lafreniere-Roula M, Steve Fan CP, Armstrong KR, Dragulescu A, Papaz T, Manlhiot C, Kaufman B, Butts RJ, Gardin L, Stephenson EA, Howard TS, Aziz PF, Balaji S, Ladouceur VB, Benson LN, Colan SD, Godown J, Henderson HT, Ingles J, Jeewa A, Jefferies JL, Lal AK, Mathew J, Jean-St-Michel E, Michels M, Nakano SJ, Olivotto I, Parent JJ, Pereira AC, Semsarian C, Whitehill RD, Wittekind SG, Russell MW, Conway J, Richmond ME, Villa C, Weintraub RG, Rossano JW, Kantor PF, Ho CY, Mital S. A Validated Model for Sudden Cardiac Death Risk Prediction in Pediatric Hypertrophic Cardiomyopathy. Circulation. 2020 Jul 21;142(3):217-229. doi: 10.1161/CIRCULATIONAHA.120.047235. Epub 2020 May 18.

  PMID: 32418493 RESULT

MeSH Terms

Conditions

Cardiomyopathy, Hypertrophic; Death, Sudden, Cardiac

Condition Hierarchy (Ancestors)

Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Heart Arrest; Death, Sudden; Death; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Limitations and Caveats

The study has limitations inherent to any retrospective analysis, that includes missing data, survivor bias, and lower uptake of genetic testing in the earlier era. Missing echocardiographic data were addressed through a re-review of echocardiograms where available and through imputation where this was not possible. We deliberately did not perform an echocardiographic core laboratory analysis because a real-world, point-of-care tool has to rely on locally acquired data.

Results Point of Contact

• Title: Seema Mital, Staff Cardiologist
• Organization: Hospital for Sick Children

seema.mital@sickkids.ca

416-813-7418

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: July 23, 2019
• First Posted: July 30, 2019
• Study Start: January 1, 2017
• Primary Completion: June 1, 2020
• Study Completion (Estimated): December 1, 2026
• Last Updated: May 21, 2025
• Results First Posted: March 11, 2021

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share