Dyskinesia, Heterotaxy and Congenital Heart Disease
Public ClinicalTrials.gov record NCT00608556. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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....
Study identification
- NCT ID
- NCT00608556
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 3 participants
Conditions and interventions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 2 Years and older
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Jan 24, 2008
- Primary completion
- Not listed
- Completion
- Oct 30, 2011
- Last update posted
- Jul 1, 2017
2008 – 2011
United States locations
- U.S. sites
- 2
- U.S. states
- 2
- U.S. cities
- 2
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Childrens National Medical Center | Washington D.C. | District of Columbia | — | — |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT00608556, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Jul 1, 2017 · Synced Sep 7, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT00608556 live on ClinicalTrials.gov.