Health Condition 1: J988- Other specified respiratory disorders
Conditions
Interventions
Control Intervention1: Not Applicable: Not Applicable
Sponsors
Aster CMI Hospital
Eligibility
Inclusion criteria
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
Exclusion criteria: 1. Children diagnosed of primary immunodeficiency disorders
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The study will be focused on the full CFTR gene sequence and identified disease-causing variants in three phases : Screening for known and structural variants; discovery of novel loss-of-function variants; and 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
| Measure | Time frame |
|---|---|
| The prevalence of common mutations in CF which involves F508del gene is reported to be 19-44% from Indian subcontinent. Rare mutations are estimated to be 30-50%. So far, no studies estimating the prevalence of cystic fibrosis in south Indian population is reported in the literature.Timepoint: 1year | — |
Countries
India
Contacts
Public ContactTejaswi Chandra
Aster CMI Hospital
Outcome results
None listed