Inherited Cardiac cONditions In Kids

NCT05158738 | Recruiting

• 1 other identifier: 288514
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 3

Brief Summary

All patients with heart disease should have the opportunity to participate in research into their condition, to advance knowledge and treatment. The investigators have built an online registry and database - The Heart Hive - to connect research-willing participants (with heart muscle disease) with active researchers and projects. Participants enrol and upload their own data through the website.This study uses The Heart Hive platform to study cardiomyopathies - heart muscle disease. These are progressive diseases, and there is a need to better understand what factors affect the chances of developing cardiomyopathy, and how the condition progresses. The study will collect information about participants diagnosis, DNA for genetic analysis, and then follow participants' clinical progress. The study will identify genetic variants that cause cardiomyopathy, and determine which specific genetic or environmental factors predict disease severity, progression and response to treatment, with an overall objective of identifying new and personalised treatments for patients with this disease.

Conditions

Inherited Cardiac Conditions; Cardiovascular Diseases

Outcome Measures

Primary Outcomes (1)

• Primary outcome measures

  Identification of novel genetic variants associated with disease status or outcome

  5 years

Interventions

Patients with inherited cardiac condition, onset <16 years old and Parents OTHER

Patients with a confirmed diagnosis of an inherited cardiac condition, onset \<16 years old and Parents will have samples that undergo whole genome sequencing and biomarker analysis

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

* Males or females with a confirmed diagnosis of childhood onset (\<16 years) PCM and their parents. * Males or females with childhood onset (\<16 years) of a rare inherited cardiac condition likely to be a monogenic condition and their parents.

You may qualify if:

• Males or females with a confirmed diagnosis of childhood onset (\<16 years) PCM
• Males or females with childhood onset (\<16 years) of a rare inherited cardiac condition likely to be a monogenic condition
• Capacity for parents to provide informed consent
• Genotype negative following local standard diagnostic ICC gene panel
• Family members of patients with ICC, both affected and unaffected

You may not qualify if:

• Parents who lack capacity to provide consent on behalf of their children/themselves
• Onset over 16 years
• Significant teratogen exposure (including maternal diabetes) likely to contribute to cardiac dysfunction (following discussion with Cardiologist)
• Significant coronary heart disease likely to contribute to cardiac dysfunction (following discussion with Cardiologist)
• Other secondary causes of cardiac dysfunction likely to explain the phenotype of the patient
• Patients with a confirmed genetic diagnosis (patients with variants of uncertain significance are not excluded).

Sponsors & Collaborators

• Imperial College London: lead
• Royal Brompton & Harefield NHS Foundation Trust: collaborator
• Great Ormond Street Hospital for Children NHS Foundation Trust: collaborator

Study Sites (3)

Royal Brompton Hospital

London, SW3 6NP, United Kingdom

RECRUITING

Great Ormond Street Hospital for Children

London, United Kingdom

RECRUITING

Harefield Hospital

Uxbridge, UB9 6JH, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

1. Blood- plasma and serum 2. Saliva 3. Collection of additional tissue samples (myocardial, skeletal, skin) from planned clinical procedures (where applicable)

MeSH Terms

Conditions

Cardiovascular Diseases

Interventions

Age of Onset

Intervention Hierarchy (Ancestors)

Age Factors; Epidemiologic Factors; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• James Ware

  Imperial College London

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Katherine Josephs

CONTACT

0207 594 9459; k.josephs@imperial.ac.uk

Chief Investigator

CONTACT

0330 128 2294

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 2, 2021
• First Posted: December 15, 2021
• Study Start: September 1, 2022
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: March 5, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR
• Time Frame: During planning (December 2021) and throughout the study recruitment and follow-up period
• Access Criteria: Provided through secure data transfer mechanisms approved by Imperial College London and secure email

Locations

GB (3)