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Screening of genes using advanced sequencing method in patients with heart problem by birth, to find the link between affected genes and the disease

Targeted Next Generation Sequencing based approach to explore potential pathogenic variants in patients with non-syndromic congenital heart defects. - NIL

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
CTRI
Registry ID
CTRI/2023/10/059320
Enrollment
50
Registered
2023-10-31
Start date
Unknown
Completion date
Unknown
Last updated
2023-11-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Health Condition 1: Q209- Congenital malformation of cardiacchambers and connections, unspecified

Interventions

Intervention1: NIL: NIL Control Intervention1: NIL: NIL

Sponsors

Department of Science and Technology
Lead Sponsor
Kasturba Medical College
Collaborator

Eligibility

Inclusion criteria

Inclusion criteria: The study subjects will be pediatric live births and adult patients. The patients will be thoroughly screened for breathing problems, failure to thrive, heart murmur, fatigue, and family history by the cardiologist. Phenotypic data for the affected individuals and their family members will be obtained from the detailed clinical evaluation based on Electrocardiogram, Two-dimensional Echocardiography, cardiac catheterization and surgical findings. Peripheral blood samples from all the participants will be collected in EDTA K2 tubes after informed consent as per the extensive clinical criteria.

Exclusion criteria

Exclusion criteria: Patients with syndromic congenital heart defects will be excluded from the study.

Design outcomes

Primary

MeasureTime frame
Genetic variants affect genotype-phenotype correlationTimepoint: 3 years

Secondary

MeasureTime frame
Genetic risk factors influence the disease severity.Timepoint: 2 years

Countries

India

Contacts

Public ContactDr Tom Devasia

Kasturba Medical College

tomdevasia@hotmail.com8310996246

Outcome results

None listed

Source: CTRI (via WHO ICTRP) · Data processed: Feb 4, 2026