An observational study in Ciliary Dyskinesia, Primary, Kartagener Syndrome and Congenital Heart Defects, sponsored by National Institute of Allergy and Infectious Diseases (NIAID). Completed at 2 sites in United States. Open to participants aged 2 Years and older. Per ClinicalTrials.gov, last updated 2017-07-02.
Sponsored by National Institute of Allergy and Infectious Diseases (NIAID) · Observational
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Among 12 studies in Kartagener Syndrome with a site in United States — 1 open to participants now, 1 under way, none of them phase 3. Kartagener Syndrome · United States.
Among the 12 studies in Kartagener Syndrome with a site in United States, this one is the 10th largest by enrollment of the 10 observational ones that give a count, is one of 2 that started in 2008, is one of 10 observational ones, and was the 3rd registered.
21 studies on the registry are indexed under Kartagener Syndrome; 4 are open to participants now.
Browse Kartagener Syndrome studies →1 of the 12 studies in Kartagener Syndrome with a site in United States is open now. Recruiting first, the newest first:
University of North Carolina, Chapel Hill · Sites in United States
Healthy volunteers
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 4 Kartagener Syndrome studies recruiting now, 4 set no upper age limit and none stop at 75 or younger; 3 take children under 18; 1 takes healthy volunteers.
This study: 2 Years and older · all sexes · no healthy volunteers.
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12 studies; the count open now beside each. This study's row is marked.
First in 2004; this study’s year is marked. 2 started in 2008.
This study's enrollment of 3 is below the median of 200 across 17 observational studies indexed under Kartagener Syndrome.
Median enrollment 12 across the 2 interventional studies, 155 across the 10 observational. Of the 11 that completed or were terminated, 0 (0%) have results posted.
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3 of 12 have an industry lead sponsor. The 3 most frequent:
National Institute of Allergy and Infectious Diseases (NIAID) is the lead sponsor of 2,446 studies on the registry; 179 are open to participants now.
Of its 406 completed or terminated interventional studies of FDA-regulated products, 302 (74%) have results posted.
National Institute of Allergy and Infectious Diseases (NIAID) has 1 study filed under Kartagener Syndrome — fewer than ten, so there is no comparison to draw.
1 of the studies in Kartagener Syndrome with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT00807482University of North Carolina, Chapel HillPathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease | 2027-06 |
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Among the 12 studies in Kartagener Syndrome with a site in United States, from their registry updates:
Nothing recorded among them since 2026-09-25.
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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:
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 of an unexpectedly high incidence (40 percent) of complex congenital heart disease together with heterotaxy in a mutant mouse model of PCD. These findings suggest heterotaxy can arise from mutations causing PCD. Consistent with this, a recent clinical research study showed some patients with PCD have undiagnosed heterotaxy. However, there has not been any clinical study to ascertain if patients diagnosed with heterotaxy may suffer from PCD, the focus of this IRB protocol. These studies are of immediate clinical importance, as heterotaxy patients undergoing surgical correction for complex structural heart defects can become ventilator dependent for unknown causes. A diagnosis of PCD in patients with heterotaxy would significantly alter clinical management strategies that have the potential to significantly improve outcome for heterotaxy patients undergoing high-risk cardiac surgery for complex congenital heart defects.
For this study, we will recruit pediatric subjects undergoing surgery for complex congenital heart defects associated with heterotaxy at Children's National Medical Center. We will also recruit adult patients with heterotaxy heart disease or situs inversus from the Children's National Medical Center and at NIH. In addition, we will recruit patients, ages 2 years and older, seen at the NIH by Dr. Kenneth Olivier with known PCD or Kartagener syndrome and with documentation or high clinical suspicion of heterotaxy or situs inversus into our study. Subjects will be evaluated for PCD using standard operating procedures (SOPs). This will include obtaining airway epithelial tissue samples to assess ciliary motion by videomicroscopy and for assessing defects in ciliary ultrastructure by electron microscopy. In addition, nasal nitric oxide measurements will be obtained, as reduced NO levels are often associated with PCD. All of these procedures will utilize SOPs obtained from approved IRB protocols that are part of a multi-center study at the University of North Carolina (Dr. Michael Knowles) and at the NIH (Dr. Ken Olivier, NIAID). In addition, blood, buccal swab, and saliva samples will be obtained for DNA analysis of candidate genes known to cause heterotaxy and/or PCD. Through these studies, we hope to establish whether mutations causing PCD may contribute to heterotaxy and situs anomalies. Such findings may suggest changes in the standard of care for heterotaxy patients to include the evaluation for PCD, particularly prior to surgery. In addition, the DNA analysis may provide novel insights into the genetic causes for complex congenital heart defects associated with heterotaxy and PCD, allowing the future development of appropriate diagnostic tests for more accurate identification of patients at risk for PCD. Together, the outcome of this study can have significant impact on improving the clinical care for patients with congenital heart disease associated with situs anomalies.
21 studies on the registry are indexed under Kartagener Syndrome; 4 are open to participants now.
This study's enrollment of 3 is below the median of 200 across 17 observational studies indexed under Kartagener Syndrome.
Browse Kartagener Syndrome studies →National Institute of Allergy and Infectious Diseases (NIAID) is the lead sponsor of 2,446 studies on the registry; 179 are open to participants now.
Of its 406 completed or terminated interventional studies of FDA-regulated products, 302 (74%) have results posted.
Compared within Kartagener Syndrome, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Ciliary Motility Disorders. The counts are of registry records indexed under each term, refreshed daily. How we classify →
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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 :
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The record gives a start of Jan 2008 and a completion of Oct 2011. It does not say whether these dates are actual or estimated.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Oct 2011. You cannot join it, but the record below documents what was studied.
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National Institute of Allergy and Infectious Diseases (NIAID) →