Status:
COMPLETED
Dyskinesia, Heterotaxy and Congenital Heart Disease
Lead Sponsor:
National Institute of Allergy and Infectious Diseases (NIAID)
Conditions:
Ciliary Dyskinesia, Primary
Kartagener Syndrome
Eligibility:
All Genders
2+ years
Brief Summary
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 i...
Detailed Description
The goal of this study is to elucidate the possible role of primary ciliary dyskinesia (PCD) in complex congenital heart disease associated with heterotaxy. This study arises from our recent finding o...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Patients who have diagnosed congenital heart disease, heterotaxy or situs inversus will be asked to participate in this study regardless of sex, age, or race. In addition, patients who have diagnosed PCD or Kartagener syndrome with documentation or high clinical suspicion of heterotaxy or situs inversus will also be recruited to participate in this study. There is no known ethnic or racial predilection for heterotaxy, congenital heart disease, situs inversus, PCD, or Kartagener syndrome.
- EXCLUSION CRITERIA:
- 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.
Exclusion
Key Trial Info
Start Date :
January 25 2008
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
October 31 2011
Estimated Enrollment :
3 Patients enrolled
Trial Details
Trial ID
NCT00608556
Start Date
January 25 2008
End Date
October 31 2011
Last Update
July 2 2017
Active Locations (2)
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1
Childrens National Medical Center
Washington D.C., District of Columbia, United States
2
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892