Genetic Determinations of Familial Chest Wall Abnormalities

Study ID
STU 062012-001

Cancer Related
No

Healthy Volunteers
Yes

Study Sites

  • UT Southwestern-Other
  • Children's Medical Center-Dallas

Contact
Rachel Renkes
214-645-2013
rachel.renkes@childrens.com

Principal Investigator
Robert Minkes

Summary

Patients will be seen in the Children's Medical Center and its affiliated outpatient clinics by one of the investigators regarding their chest wall abnormality. a complete history and physical exam will be performed. The anterior chest wall of each participant will be examined for a sternum deformity. The height and weight of every patient will be measured.
Some of the affected individuals will have extensive medical evaluation for their chest wall deformity. all of these evaluations will be done as part of standard medical care and will not be influenced by the study.
Subjects for this study will be identified from those individuals being medically evaluated for a chest wall abnormality. Subjects may also volunteer if they hear about the study and fit the inclusion/exclusion criteria, even if they aren't currently Children's patients. Parents and immediate family members of all subjects will be invited to participate as well. Parents (ages 18 or older) may be seen at Children's, or at the uT Southwestern McDermott Center. informed consent will be obtained from all study participants before any study related procedures are performed. each subject and parent will be asked to complete a Chest Wall Questionnaire. This questionnaire will ask for the name, date of birth, ethnicity, race, medical and family history of the subject. a blood or saliva sample will be collected for every individual. unique identifiers will be assigned for each subject. The research coordinator of the study will keep the information regarding the link between the name and identifier for each subject. Participants will not be able to be identified from only the unique study identifier.
Blood will be collected by vein. a maximum of 10 ml (2 teaspoons) for children 16 x 40 lbs. in weight, 20 ml (4 teaspoons) for children 41 lbs. and up. 35 ml (6 teaspoons) will be collected on adult study participants. if blood cannot be collected by vein, we will do a finger stick to obtain a maximum of 2 mL of blood. if the patient doesn't want to do a blood draw by vein or finger stick, we will allow them to give a saliva sample. We will obtain the saliva by using 4-5 buccal swabs on the inside of their cheek. a blood sample yields the highest quality and quantity of Dna, so that will be suggested to the participant first. We may ask the participant for a second sample (blood or saliva) if the research laboratory cannot process the first sample or if there was a collection failure.
Samples of blood or saliva will be labeled with the unique identifier and will be shared with Drs. Hobbs and Garcia, for the isolation and storage of genomic Dna. These samples will be kept indefinitely for the study of the genetics of chest wall abnormalities. information that will be shared with Drs. Hobbs and Garcia will include age, ethnicity, gender, race, medical and family history.
Should the answers from Chest Wall Questionnaire identify other family members with similar characteristics, we will ask the participant to contact affected family members to tell them about our research study and ask if they are interested in participating. it will be communicated that the family member will need to contact us if they are interested in enrollment in this study. Blood or saliva samples will be collected, labeled with a unique identifier and will be used as described above. a physical exam as and medical record review as described above can also be performed. information regarding the familial relationship between individuals will also be shared with Drs. Hobbs and Garcia for the purpose of studying the genetics of pectus.

if available, we will collect any imaging on participants from STu 042013-005, [Quote]Development of a Multi-modality non-Radiologic image Repository and Registry,[Quote] Pi: alex Kane, MD. Participation in STu#042013-005 is not mandatory for participation in this genetics study.

Participant Eligibility

1. Children with chest wall deformity.
2. Any race, gender,age or ethnicity
3. Ability to give informed consent
4. Normal Healthy Volunteers