Genetic Linkage Study of Idiopathic Talipes Equinovarus (... | NCT00474344

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

NCT00474344

Sponsor

University of British Columbia

Status

Completed

Last Update Posted

May 18, 2022Actual

Enrollment

370Actual

Phase

Not provided

Conditions

Clubfoot

Interventions

Not provided

Countries

United States
Canada

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

May 2017

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Aug 2004

Primary Completion Date

Dec 2010Actual

Completion Date

Aug 2013Actual

First Submitted Date

May 14, 2007

First Submission Date that Met QC Criteria

May 15, 2007

First Posted Date

May 16, 2007Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

May 16, 2022

Last Update Posted Date

May 18, 2022Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Christine Alvarez, Principle Investigator, University of British ColumbiaPrincipal Investigator

Lead Sponsor

University of British ColumbiaOTHER

Collaborators

Name	Class
National Institutes of Health (NIH)	NIH
Shriners Hospitals for Children	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

370Actual

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

One family member, usually child, must have clubfoot

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

One family member, usually child, must have clubfoot.

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Christine Alvarez, MD	University of British Columbia	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University of Texas		Houston	Texas		United States
BC Children's Hospital

Condition Browse Module

MeSH Terms

ID	Term
D003025	Clubfoot

Ancestor Terms

ID	Term
D000070558	Talipes
D005531	Foot Deformities, Acquired
D005530	Foot Deformities
D009140	Musculoskeletal Diseases

Browse Leaves

Not provided

Browse Branches

Not provided