Natural History of Bronchiectasis

  • participants needed
  • sponsor
    National Heart, Lung, and Blood Institute (NHLBI)
Updated on 15 September 2022
ct scan
pulmonary function test
pulmonary disease
cystic fibrosis
respiratory infections
respiratory symptom
pulmonary function tests
lung disease
genetic testing
genetic tests
allergic bronchopulmonary aspergillosis
Accepts healthy volunteers


  • Bronchiectasis is a disease characterized by airways that are inflamed, abnormally dilated, and chronically infected. Individuals with bronchiectasis have a history of chronic and recurring respiratory infections. Depending on the underlying cause, these infections may involve the entire respiratory tract, resulting in sinus, ear, and lung disease.
  • Bronchiectasis continues to be a significant problem in developing countries and in specific groups of individuals, particularly in people who have cystic fibrosis. Although treatments are available or under development for bronchiectasis related to cystic fibrosis, many of the disease-specific treatments may not be effective for bronchiectasis not related to cystic fibrosis.
  • To study the natural history of bronchiectasis to identify inherited and immune factors that may explain why certain individuals have chronic recurring infections.
  • Individuals 5 years of age and older who have an established diagnosis of bronchiectasis or a history of chronic/recurring respiratory infections.
  • Direct family members (e.g., parents, siblings, children) of patients in the study may also be asked to participate.
  • Potential participants will be screened with an initial clinic evaluation and full medical history, as well as a general quality of life and respiratory symptom questionnaire.
  • The following standard procedures may be done as part of the study: air sampling from the nose; imaging studies, which may include an x-ray or computed tomography (CT), lung function tests; and collection of samples of blood, urine, and sputum (phlegm or mucus). Other tests may be performed as required by the researchers, and will be explained to patients as needed.
  • Both patients and relatives (if asked to participate) will provide the following samples: blood or buccal (cheek swab) cells for genetic testing, sputum, and urine.
  • To prevent infections and potential disease progression, patients may receive standard medical care and treatment for bronchiectasis and related infections during this protocol.


Bronchiectasis, or abnormal dilation of the airways, is a condition typically characterized by chronic and recurring respiratory tract infections. Frequently, depending on the underlying cause, these infections involve the entire respiratory tract resulting in sinus, ear, and lung disease. This condition used to be more common in children prior to immunizations for childhood infections. It continues to be a significant problem in developing countries and in specific groups of individuals in the U.S. Cystic fibrosis (CF) is the most commonly associated genetic condition and tremendous strides have been made in recent years in understanding the mechanisms of this disease that are leading to a multitude of emerging novel treatment strategies. The mechanisms of other causes for bronchiectasis have not evolved to this degree, and many of the disease-specific treatments being assessed for cystic fibrosis may not be effective for non-CF bronchiectasis. Often bronchiectasis can be associated with chronic infections from environmental germs such as the nontuberculous mycobacteria.

Condition Bronchiectasis, Cystic Fibrosis, Autoimmune Disease, Common Variable Immunodeficiency
Clinical Study IdentifierNCT00943514
SponsorNational Heart, Lung, and Blood Institute (NHLBI)
Last Modified on15 September 2022


Yes No Not Sure

Inclusion Criteria

Children age 5 years and above and adults referred to the NIH with chronic or recurring respiratory infections will be eligible for participation
Males and females will be considered without regard to race or ethnicity or upper age limit
Emphasis will be primarily on non CF bronchiectasis for elucidation of mechanisms of infection susceptibility. However, select patients with cystic fibrosis or acquired immune defects (such as HIV) may be studied if relevant host defects are suspected or if needed for comparison purposes or to evaluate and study the management of chronic pathogen associated conditions such as nontuberculous mycobacterial infections or allergic bronchopulmonary aspergillosis
Subjects must have a primary or referring physician
Subjects must be willing to have samples stored
As a part of this protocol we may obtain blood, sputum, urine, or buccal swabs from some
blood relatives of patients on the study, with the hope of isolating and characterizing the
primary host defense defect(s) or genetic links responsible for airway infection
susceptibility and/or bronchiectasis seen within families. Male and female relatives will
be accepted without limitation due to age. These relatives may have pertinent
disease-related history obtained, but will neither receive treatment nor have any other
protocol procedures done unless they are enrolled on the study

Exclusion Criteria

We wish to avoid enrolling subjects, especially children, who have common respiratory
problems (aeroallergen sensitivity, asthma, gastric esophageal reflux) that are not
associated with an underlying abnormality in host defenses. Evidence of significance
of chronic or recurring infections suggestive of an underlying airway surface or
Children under the age of 5 will be excluded from this protocol
systemic host defense defect should be documented by one or more of the following: a)
sinus or lower airway cultures positive for bacterial, fungal, or mycobacterial
pathogens characteristic of these defects; or b) radiographic evidence of sinusitis
with mucosal thickening and/or air-fluid levels; or c) radiographic evidence of
bronchiectasis; d) severity of otitis media requiring placement of tympanic membrane
pressure equalization tubes; e) severity of sinusitis requiring surgical intervention
Patients who are unable or unwilling to provide informed consent either directly or
via appropriately designated surrogate
Any patient who, in the opinion of the Investigator, is unable or unwilling to comply
with regular follow-up or is unlikely to provide pertinent information regarding
disease progression or response to treatment may be excluded from longitudinal
When a pediatric subject reaches age 18, continued participation will require reconsenting
with the adult consent document
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