Clubfoot DNA Repository

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2010 by Texas Scottish Rite Hospital for Children
Sponsor:
Information provided by:
Texas Scottish Rite Hospital for Children
ClinicalTrials.gov Identifier:
NCT00607191
First received: January 22, 2008
Last updated: July 27, 2010
Last verified: July 2010
  Purpose

To build a DNA repository to enable participation in ongoing and future Clubfoot genetic linkage studies.


Condition
Clubfoot

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Clubfoot DNA Repository

Further study details as provided by Texas Scottish Rite Hospital for Children:

Primary Outcome Measures:
  • To identify a gene, or genes, that are associated with isolated clubfoot. [ Time Frame: 10 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • New or improved ways to determine individuals and families at higher risk for clubfoot and development of new or improved ways to treat clubfoot. [ Time Frame: 10 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Each of the study participants (affected and non-affected individuals) will be asked to provide DNA from a blood sample. A 10cc sample of blood will be removed on 1 or 2 occasions by drawing blood from the arm or by finger stick by research staff. If the participant is a child who will be undergoing surgery, the blood sample will be collected at that time to eliminate additional stick. If collecting a blood sample is not possible we can also obtain DNA by collecting a saliva sample. This second technique does not give us as much DNA as we would get from blood. Therefore, if we get saliva samples, we might require more than one saliva sample over the course of the study.


Estimated Enrollment: 500
Study Start Date: January 2008
Estimated Study Completion Date: January 2018
Estimated Primary Completion Date: January 2018 (Final data collection date for primary outcome measure)
Detailed Description:

Clubfoot is a birth defect that can occur alone (in isolation) or as a part of a disease like cerebral palsy (CP). Genetic linkage is a research tool in which DNA samples are tested for genetic landmarks (markers) whose location on chromosomes is known. Genes and markers that are physically close to one another on the chromosome are said to be tightly linked than genes and markers that are located far apart. This gives clues of where to search for genes causing isolated clubfoot. If there appears to be a high correlation between family members' inheritance of a particular marker, and their inheritance of the trait being studied (in this case clubfoot), the area of the chromosome near that marker can then be searched for a likely gene which causes the trait. It is hoped that genetic linkage research might eventually result in new or improved ways to determine individuals and families at higher risk for clubfoot and development of new or improved ways to treat clubfoot.

Our research staff will obtain information about each subject and their family called a pedigree. We will then administer a one page questionnaire to the mother(s) of the affected individual(s). This questionnaire will ask about the mother's experiences during pregnancy (e.g. Did she take multivitamins? Did she smoke or drink? etc.)

Each of the study participants (affected and non-affected individuals) will be asked to provide DNA from a blood sample. If collecting a blood sample is not possible we can also obtain DNA by collecting a saliva sample.

Samples for DNA processing will be stored according to the following repository guidelines. Patient/donor-subject information, questionnaires, and consents will be maintained by the orthopaedic research coordinator.

Samples will be made to investigators not affiliated with UT Southwestern who wish to study genetic factors that cause clubfoot; for example, we have recently been approached by Jacqueline Hecht (UT Health Science Center, Houston) and Matthew Dobbs (Washington University, St. Louis) regarding participation in their multicenter trials. Samples will be de-identified and will include no personal information which would link the sample to the donor subject.

Primary investigator and sub-investigators will determine how samples will be used and by whom. Additional research utilizing subjects' samples will be approved by the TSRHC Research Advisory panel and the IRB at UT Southwestern.

  Eligibility

Ages Eligible for Study:   up to 75 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients being treated at the participating facilities with a diagnosis of clubfoot, and their affected family members.

Criteria

Inclusion Criteria:

  • For a family to be included in this study there should be at least one person in the family affected with Idiopathic Talipes Equinovarus (or clubfoot). If the person satisfies this criterion, then the affected person and his/her parents are included in the study. If there are other individuals in the family who are also affected (e.g. a cousin), then these individuals are also invited to participate in the study along with their parents, siblings and all other family members that link the two affected individuals (e.g. grandparents).

Exclusion Criteria:

  • Inability to speak and read English or Spanish
  • Should not have any other major birth defect (e.g. Heart defects, Downs Syndrome or cerebral palsy).
  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 ClinicalTrials.gov identifier: NCT00607191

Contacts
Contact: Cindy Daniel 214-559-7558 cindy.daniel@tsrh.org
Contact: Tara Kristof, B.A. 214-559-8471 tara.kristof@tsrh.org

Locations
United States, Texas
Texas Scottish Rite Hospital for Children Recruiting
Dallas, Texas, United States, 75219
Principal Investigator: B. Stephens Richards, M.D.         
Sub-Investigator: John A Herring, M.D.         
Sub-Investigator: Carol Wise, PhD         
Sub-Investigator: Charles E Johnston, MD         
Sub-Investigator: John G Birch, MD         
Sub-Investigator: Lori A Karol, MD         
Sub-Investigator: Karl E Rathjen, MD         
Sub-Investigator: Daniel J Sucato, MD         
Sub-Investigator: Shawne Faulks, RN, MSN, CNS         
Sponsors and Collaborators
Texas Scottish Rite Hospital for Children
Investigators
Principal Investigator: B. Stephens Richards, M.D. Assistant Chief of Staff, Texas Scottish Rite Hospital for Children
  More Information

Additional Information:
No publications provided

Responsible Party: B. Stephens Richards, M.D., Texas Scottish Rite Hospital for Children
ClinicalTrials.gov Identifier: NCT00607191     History of Changes
Other Study ID Numbers: UTSW 122007-004
Study First Received: January 22, 2008
Last Updated: July 27, 2010
Health Authority: United States: Institutional Review Board

Keywords provided by Texas Scottish Rite Hospital for Children:
Idiopathic talipes equinovarus (ITEV)

Additional relevant MeSH terms:
Clubfoot
Equinus Deformity
Foot Deformities, Congenital
Foot Deformities
Musculoskeletal Diseases
Lower Extremity Deformities, Congenital
Limb Deformities, Congenital
Musculoskeletal Abnormalities
Congenital Abnormalities
Foot Deformities, Acquired

ClinicalTrials.gov processed this record on September 16, 2014