Dyskinesia, Heterotaxy and Congenital Heart Disease
Completed
Conditions studied: Ciliary Dyskinesia, Primary, Kartagener Syndrome, Congenital Heart Defects, Situs Inversus
In brief
This study will examine genetic material obtained from blood and tissue samples of patients with congenital heart disease (CHD) and heterotaxy (an abnormality in the left-right positioning of organs in the body, also called situs inversus) to gain a better understanding of these disorders and of a lung disease called primary ciliary dyskinesia (PCD). CHD is prevalent in patients with heterotaxy. It is believed that certain forms of CHD or heterotaxy may have the same genetic origin as PCD. Individuals 2 years of age or older who have a CHD or heterotaxy or both may be eligible for this study. Participants undergo some or all of the following tests and procedures: * Blood tests, electrocardiogram (EGC) and chest x-ray. * Saliva collection: Subjects rinse their mouth with water, and then spit approximately 1.5 cc of saliva into a sterile container. * Buccal swabs: A small soft, toothbrush-like swab is rubbed on the inside lining of the cheek to collect tissue samples. * Nasal tests to measure nasal nitric oxide levels and to obtain tissue samples from the inside of the nostrils: For the nitric oxide level test, a rubber probe is inserted into one of the nostrils until it fits snugly and comfortably. The subject then takes a deep breath and then exhales all the way out through the mouth through a plastic device. During exhalation, gas measurements are recorded on a computer. To obtain tissue samples, a device is inserted in a nostril and scraped gently against the inside of the nose. * Echocardiography: This ultrasound test of the heart uses sound waves to obtain pictures of the heart. A small wand with a warm clear gel is moved around the chest to obtain the images. * Abdominal ultrasound: This ultrasound test of the heart uses sound waves to obtain pictures of the abdominal organs. A small wand with a warm clear gel is moved around the abdomen to obtain the images....
Key facts
- Study ID
- NCT00608556
- Run by
- National Institute of Allergy and Infectious Diseases (NIAID)
- People needed
- 3
- Starts
- 2008-01-25
- Expected to finish
- 2011-10-31
- Last updated by the study team
- 2017-07-02
Who can join
Age: 2 and older. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Certain conditions may preclude specific procedures included in this protocol, but may still allow pertinent parts of the diagnostic evaluation. These conditions/procedures may include: pregnancy/chest radiograph. For reversible conditions, such as acute upper airway infection, significant epistaxis within the prior week (not related to number 2 below), or lower airway infection with uncontrollable coughing, the participant may need to be re-evaluated after resolution. For nasal NO or nasal mucosal scrapings, the following lists the absolute contraindications:
- Anatomic abnormality of the nose or sinuses (e.g. complete sinus blockage or turbinatectomy) that precludes the measurement of nasal NO.
- A severe bleeding diathesis or condition, such as hereditary hemorrhagic telangiectasia syndrome, that may predispose to significant nasal bleeding or result in a severely excoriated nasal mucosa.
Where it is running
- Childrens National Medical Center — Washington D.C., District of Columbia, United States
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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