Maternal Vitamin A and Hirschsprung Disease in the child
- Conditions
- Health Condition 1: Q431- Hirschsprungs disease
- Registration Number
- CTRI/2021/09/036353
- Lead Sponsor
- ot funded
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 13
Mothers of infants diagnosed with Hirschsprung Disease. Control group - mothers who are age and month of post-partum matched, with normal infants
Children admitted with suspicion of HSCR but who have ganglion cells positive on biopsy will be excluded from the study. Children with concomitant hypothyroidism and HSCR will be excluded. Mothers of the children with diagnosed HSCR who are on regular medications like antidepressants, antiepileptics, antipsychotics, statins etc or has received Vitamin A supplementation during pregnancy, will be excluded.
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method To compare vitamin A liver stores (which is the gold standard currently available for vitamin A status measurement) in mothers of infants with Hirschsprung Disease to mothers with normal childrenTimepoint: Blood samples taken at baseline, Day 1, Day 3 and Day 21.
- Secondary Outcome Measures
Name Time Method ext generation sequencing of RET exons along with its upstream promoter region was done in the 7 proband-parent trios to evaluate the existence of pathogenic variants in the children with HSCRTimepoint: Blood samples taken at baseline