What are the common and uncommon gene mutations among cystic fibrosis children in south India
Not Applicable
- Conditions
- Health Condition 1: J988- Other specified respiratory disorders
- Registration Number
- CTRI/2022/12/047881
- Lead Sponsor
- Aster CMI Hospital
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Yet Recruiting
- Sex
- Not specified
- Target Recruitment
- 0
Inclusion Criteria
1. Confirmed diagnosis of cystic fibrosis by sweat chloride analysis
2. Sibling of affected individual with chronic wet cough
3. Parents of affected individual
4. High index of suspicion of cystic fibrosis clinically, with negative sweat chloride test
Exclusion Criteria
1. Children diagnosed of primary immunodeficiency disorders
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The study will be <br/ ><br>focused on the full CFTR gene sequence and identified disease-causing variants in three phases : <br/ ><br>Screening for known and structural variants; discovery of novel loss-of-function variants; and <br/ ><br>investigation of remaining variants.Timepoint: Collection of data after 6 months of starting the study and analysis of data after 6 months of collection of data
- Secondary Outcome Measures
Name Time Method The prevalence of common mutations in CF which involves F508del gene is reported to be <br/ ><br>19-44% from Indian subcontinent. <br/ ><br>Rare mutations are estimated to be 30-50%. So far, no studies estimating the prevalence <br/ ><br>of cystic fibrosis in south Indian population is reported in the literature.Timepoint: 1year