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

This study has been completed.
Shriners Hospitals for Children
Information provided by (Responsible Party):
University of British Columbia Identifier:
First received: May 14, 2007
Last updated: March 27, 2014
Last verified: March 2014

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.


Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot)

Further study details as provided by University of British Columbia:

Enrollment: 370
Study Start Date: August 2004
Study Completion Date: August 2013
Primary Completion Date: December 2010 (Final data collection date for primary outcome measure)
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.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

One family member, usually child, must have clubfoot.


Inclusion Criteria:

  • One family member, usually child, must have clubfoot
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00474344

United States, Texas
University of Texas
Houston, Texas, United States
Canada, British Columbia
BC Children's Hospital
Vancouver, British Columbia, Canada, V6H 3V4
Sponsors and Collaborators
University of British Columbia
Shriners Hospitals for Children
Principal Investigator: Christine Alvarez, MD University of British Columbia
  More Information

No publications provided

Responsible Party: University of British Columbia Identifier: NCT00474344     History of Changes
Other Study ID Numbers: H04-70319
Study First Received: May 14, 2007
Last Updated: March 27, 2014
Health Authority: Canada: Health Canada

Keywords provided by University of British Columbia:
Idiopathic Talipes Equinovarus also known as Clubfoot

Additional relevant MeSH terms:
Equinus Deformity
Congenital Abnormalities
Foot Deformities
Foot Deformities, Acquired
Foot Deformities, Congenital
Limb Deformities, Congenital
Lower Extremity Deformities, Congenital
Musculoskeletal Abnormalities
Musculoskeletal Diseases processed this record on November 24, 2014