FULL DETAILS (Read-only)  -> Click Here to Create PDF for Current Dataset of Trial
CTRI Number  CTRI/2021/06/034215 [Registered on: 14/06/2021] Trial Registered Prospectively
Last Modified On: 07/02/2024
Post Graduate Thesis  No 
Type of Trial  Observational 
Type of Study   Cohort Study 
Study Design  Other 
Public Title of Study   Congenital heart defects  
Scientific Title of Study   Deep phenotyping, comprehensive genomic studies and investigations into pathomechanisms of congenital heart defects 
Trial Acronym   
Secondary IDs if Any  
Secondary ID  Identifier 
NIL  NIL 
 
Details of Principal Investigator or overall Trial Coordinator (multi-center study)  
Name  Shalini S Nayak 
Designation  Assistant Professor 
Affiliation  Kasturba Medical College, Manipal 
Address  Department of Medical Genetics, Kasturba Medical College, Madhava Nagar, Manipal, Manipal Academy of Higher Education, Karnataka, India

Udupi
KARNATAKA
576104
India 
Phone  9964043502  
Fax    
Email  nayak.shalini@manipal.edu  
 
Details of Contact Person
Scientific Query  
Name  Shalini S Nayak 
Designation  Assistant Professor 
Affiliation  Kasturba Medical College, Manipal 
Address  Department of Medical Geneticsm Kasturba Medical College, Madhava Nagar, Manipal, Manipal, Manipal Academy of Higher Education, Karnataka, India

Udupi
KARNATAKA
576104
India 
Phone  9964043502  
Fax    
Email  nayak.shalini@manipal.edu  
 
Details of Contact Person
Public Query  
Name  Shalini S Nayak 
Designation  Assistant Professor 
Affiliation  Kasturba Medical College, Manipal 
Address  Department of Medical Genetics, Kasturba Medical College, Madhava Nagar, Manipal, Manipal Academy of Higher Education, Karnataka, India

Udupi
KARNATAKA
576104
India 
Phone  9964043502  
Fax    
Email  nayak.shalini@manipal.edu  
 
Source of Monetary or Material Support  
Financial support is provided by Department of Biotechnology, Ministry of Science and Technology, Government of India 
Infrastructure is provided by Department of Medical Genetics, Kasturba Medical College, Madhava Nagar, Manipal 
 
Primary Sponsor  
Name  Department of Biotechnology Ministry of Science and Technology Government of India 
Address  Department of Biotechnology, Ministry of Science and Technology, Government of India New Delhi, India 
Type of Sponsor  Government funding agency 
 
Details of Secondary Sponsor  
Name  Address 
NIL  NIL 
 
Countries of Recruitment     India  
Sites of Study  
No of Sites = 1  
Name of Principal Investigator  Name of Site  Site Address  Phone/Fax/Email 
Shalini S Nayak  Kasturba Medical College and Hospital  Department of Medical Genetics, Kasturba Medical College, Madhava Nagar, Manipal
Udupi
KARNATAKA 		 9964043502

nayak.shalini@manipal.edu 
 
Details of Ethics Committee  
No of Ethics Committees= 1  
Name of Committee  Approval Status 
Institutional Ethics Committe, Kasturba Medical College and Kasturba Hospital, Manipal  Approved 
 
Regulatory Clearance Status from DCGI  
Status 
Not Applicable 
 
Health Condition / Problems Studied  
Health Type  Condition 
Patients  (1) ICD-10 Condition: Q289||Congenital malformation of circulatory system, unspecified,  
 
Intervention / Comparator Agent  
Type  Name  Details 
Comparator Agent  Nil  Nil 
 
Inclusion Criteria  
Age From  0.00 Day(s)
Age To  18.00 Year(s)
Gender  Both 
Details  We plan to recruit 80 families affected with a congenital heart defect in aborted fetuses, neonates and children 
 
ExclusionCriteria 
Details  None 
 
Method of Generating Random Sequence   Not Applicable 
Method of Concealment   Not Applicable 
Blinding/Masking   Not Applicable 
Primary Outcome  
Outcome  TimePoints 
Molecular diagnosis and genetic counseling of participating familes with congenital heart disease  The study period is for a duration of three years. However we do not have specific time point as this is an observational study. An average time to generate a report for a patient will be 6 months. 
 
Secondary Outcome  
Outcome  TimePoints 
Adding novel variants and/or novel genes causing congenital heart defects to the literature  Three years 
 
Target Sample Size   Total Sample Size="80"
Sample Size from India="80" 
Final Enrollment numbers achieved (Total)= "Applicable only for Completed/Terminated trials"
Final Enrollment numbers achieved (India)="Applicable only for Completed/Terminated trials" 
Phase of Trial   N/A 
Date of First Enrollment (India)   15/06/2021 
Date of Study Completion (India) Applicable only for Completed/Terminated trials 
Date of First Enrollment (Global)  Date Missing 
Date of Study Completion (Global) Applicable only for Completed/Terminated trials 
Estimated Duration of Trial   Years="3"
Months="0"
Days="0" 
Recruitment Status of Trial (Global)
Modification(s)  		 Not Applicable 
Recruitment Status of Trial (India)  Open to Recruitment 
Publication Details   Not applicable now 
Individual Participant Data (IPD) Sharing Statement

Will individual participant data (IPD) be shared publicly (including data dictionaries)?  

Response - YES
  1. What data in particular will be shared?
    Response - Individual participant data that underlie the results reported in this article, after de-identification (text, tables, figures, and appendices).

  2. What additional supporting information will be shared?
    Response -  Study Protocol
    Response - Informed Consent Form
    Response - Clinical Study Report

  3. Who will be able to view these files?
    Response - Researchers whose proposed use of the data has been approved by an independent review committee identified for this purpose.

  4. For what types of analyses will this data be available?
    Response - To achieve aims in the approved proposal.

  5. By what mechanism will data be made available?
    Response (Others) -  De-identified

  6. For how long will this data be available start date provided 01-01-2022 and end date provided 01-12-2025?
    Response - Immediately following publication. No end date.

  7. Any URL or additional information regarding plan/policy for sharing IPD? 
    Additional Information - Nil
Brief Summary
Modification(s)  		 heart defect (CHD) is the most prevalent birth defect leading to significant morbidity and mortality in children. Chromosomal abnormalities, copy number variations and monogenic defects constitute genomic alterations underlying CHD. Accurate evaluation, understanding of the disease phenotypes, and obtaining a diagnosis play a major role in prognostication and management of the condition in affected families. However, only a small proportion of patients receive a diagnosis despite extensive evaluation. In this study, we propose to perform detailed phenotyping, genetic workup and functional evaluation variants in families with abortuses (fetuses) and children with congenital heart defects by using chromosomal microarray and exome sequencing and whole genome sequencing in limited families. We aim to better understand the anatomy and embryology of CHD, the underlying genetic burden of the disease, ultimately aiding informed counseling and management. 
Close