Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot)

Completed

• Conditions: Clubfoot

• Registration Number: NCT00474344
• Lead Sponsor: University of British Columbia

Brief Summary

The goal of this study is to identify and characterize the genetic loci causing idiopathic talipes equinovarus (clubfoot).

The hypothesis is that a few genes account for a substantial fraction of ITEV and that these genes can be identified in defined populations. Towards this goal, in preliminary studies, Dr. Hecht's group has identified two genes, NAT2 and CASP10, which demonstrate evidence for linkage and association to ITEV.

Detailed Description

Blood Collection: For this study, the investigators need to obtain blood samples from members of families in which clubfoot has occurred; more specifically, blood samples from the affected child and both parents. DNA will be extracted from blood samples. The DNA will then be tested to look for genetic factors that cause clubfoot.

Study Questionnaires: As well as the blood samples, the investigators have a short questionnaire for the mother of the child with clubfoot to complete.

Study Timeline

• Study Start: 2004-08
• Study First Submitted: 2007-05-14
• Study First Submitted QC: 2007-05-15
• Study First Posted: 2007-05-16
• Primary Completion: 2010-12
• Study Completion: 2013-08
• Status Verified: 2017-05
• Last Update Submitted: 2022-05-16
• Last Update Posted: 2022-05-18

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 370

Inclusion Criteria

• One family member, usually child, must have clubfoot

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (2)

BC Children's Hospital; 🇨🇦 Vancouver, British Columbia, Canada

University of Texas; 🇺🇸 Houston, Texas, United States