NCT00608556

Dyskinesia, Heterotaxy and Congenital Heart Disease

Completed Last updated 2 July 2017

What this trial tests

trial in Ciliary Dyskinesia, Primary in 3 participants. Completed in 31 October 2011.

Timeline

25 January 2008

31 October 2011

Quick facts

Lead sponsor	National Institute of Allergy and Infectious Diseases (NIAID)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	3
Start date	25 January 2008
Estimated completion	31 October 2011
Sites	2 locations across United States

Conditions studied

• Ciliary Dyskinesia, Primary — all drugs for Ciliary Dyskinesia, Primary →
• Kartagener Syndrome — all drugs for Kartagener Syndrome →
• Congenital Heart Defects — all drugs for Congenital Heart Defects →
• Situs Inversus — all drugs for Situs Inversus →

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Who can join

2 and older, any sex, with Ciliary Dyskinesia, Primary or Kartagener Syndrome. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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....

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.