Clubfoot DNA Repository
Condition: Clubfoot
MeSH terms: Clubfoot; Talipes; Equinus Deformity
Study type: Observational

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

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 Texas Scottish
      Rite Hospital for Children Research Advisory Panel and the Institutional Review Board at UT
      Southwestern.
    

Observational model: Family-Based
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        Patients being treated at the participating facilities with a diagnosis of clubfoot, and
        their affected family members.
      
Biospecimen description: 
      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.
    
Keywords: Idiopathic talipes equinovarus (ITEV)