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Maternal Vitamin A and Hirschsprung Disease in the child

Not Applicable
Completed
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
Inclusion Criteria

Mothers of infants diagnosed with Hirschsprung Disease. Control group - mothers who are age and month of post-partum matched, with normal infants

Exclusion Criteria

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
NameTimeMethod
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
NameTimeMethod
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
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