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The purpose of this protocol is to obtain biologic materials from the blood and lungs from patients with lung disease in order to develop an understanding of the etiology and pathogenesis of these disorders. General admission criteria for this project will require at least one of the following: (1) symptoms consistent with pulmonary disease; (2) chest X-ray consistent with lung disease; (3) pulmonary function tests consistent with lung disease; (4) lung biopsy consistent with lung disease; (5) family history of lung disease; and (6) patients with diseases of organs with known association with lung disease.
Patients will undergo a general medical evaluation by a pulmonary physician (and consultants as appropriate for other organs). The typical routine medical studies to be carried out may include: chest X-ray (posterior-anterior and lateral), non-contrast high resolution CT scan of the chest, pulmonary function tests, electrocardiogram, echocardiogram, general hematologic studies, general serologic studies, /immunologic studies, biochemical analyses (including carboxyhemoglobin to measure blood carbon monoxide levels in order to accurately evaluate the diffusion capacity in individuals who smoke since smoking increases the blood levels of carbon monoxide), alcohol blood test, urinalysis, urine chemistries (including blood or urine nicotine and cotinine test to evaluate urine for active or passive exposure to nicotine), blood or urine drug screening (to evaluate use of recreational drugs and/or mood altering medications), pregnancy test (if applicable) and HIV serology. Also, a sweat chloride and sweat rate test may be performed by the physician to evaluate participants with a possible diagnosis of cystic fibrosis.
The study individual will undergo fiberoptic bronchoscopy with a combination of bronchial brushing and/or bronchoalveolar lavage and/or bronchial wall biopsy. The primary factor for determining if an individual will have bronchial alveolar lavages (BAL) and/or brushings and/or biopsies is the particular lung disease affecting the individual. This will depend on the known mechanism relevant to the pathogenesis of the particular disease. For example, in individuals with asthma, the samples may include airway brushing and airway biopsies; in contrast, in individuals with chronic obstructive pulmonary disease (COPD), sampling may include airway brushings, airway biopsies, and bronchoalveolar lavage. Other determining factors include: the amount of moderate sedation (if used) and the amount of analgesia used; the maximal dosage of topical lidocaine that is allowed per procedure; allergic reactions to any of the medications used in the procedures; and individual's tolerance to the procedure.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Lung Disease | All study individuals will be males or females that are 18 years or older and are able to provide informed consent and have been diagnosed with lung disease. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Lung Disease | Procedure | Bronchoscopy consists of the passage via the mouth or nose of a flexible fiberoptic bronchoscopy into the airways. In the lavage (washing) procedure, sterile 0.9% saline (5 x 20 ml aliquots in 1 to 3 sites) is instilled into the lung and immediately suctioned back, washing off cells lining the airways.In the brushing procedure, a small cytology brush is passed through the bronchoscope, and a small area of the airway wall is brushed gently to obtain epithelial cells lining the airway. Certain individuals may have bronchial wall biopsy carried out. In this procedure, a small biopsy forceps is passed through the bronchoscope and a small biopsy is obtained from the bronchial wall. |
| Measure | Description | Time Frame |
|---|---|---|
| Understand lung disease etiology and pathogenesis | The primary objective is to develop and understand the etiology and pathogenesis of these lung disease disorders. | 9/31/2012 |
| Measure | Description | Time Frame |
|---|---|---|
| Identify suitable candidates | The secondary objective is to identify individuals who will be suitable candidates for other protocols such as those involving investigational new drugs. | 9/31/2012 |
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Inclusion Criteria:
Exclusion Criteria:
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The source of potential subjects will be the population of individuals defined by the eligibility criteria below, individuals in the New York metropolitan area and elsewhere. Up to one hundred volunteers will take part in the study each year. Accrual will be random with no bias as to gender or racial/ethnic group. All study individuals will be males or females that are 18 years or older and are able to provide informed consent. Advertisements will be posted at various educational institutions and hospitals and placed in newspapers in the New York metropolitan area. Paid volunteer referrals will also be used for patient recruitment.
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| Name | Affiliation | Role |
|---|---|---|
| Ronald G Crystal, MD | Department of Genetic Medicine, WMC of Cornell University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Department of Genetic Medicine, Weill Cornell Medical College | New York | New York | 10021 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 21034448 | Derived | Wang G, Wang R, Ferris B, Salit J, Strulovici-Barel Y, Hackett NR, Crystal RG. Smoking-mediated up-regulation of GAD67 expression in the human airway epithelium. Respir Res. 2010 Oct 29;11(1):150. doi: 10.1186/1465-9921-11-150. | |
| 19919714 | Derived | Carolan BJ, Harvey BG, Hackett NR, O'Connor TP, Cassano PA, Crystal RG. Disparate oxidant gene expression of airway epithelium compared to alveolar macrophages in smokers. Respir Res. 2009 Nov 17;10(1):111. doi: 10.1186/1465-9921-10-111. |
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| ID | Term |
|---|---|
| D008171 | Lung Diseases |
| D001991 | Bronchitis |
| D004646 | Emphysema |
| D029424 | Pulmonary Disease, Chronic Obstructive |
| D001249 | Asthma |
| ID | Term |
|---|---|
| D012140 | Respiratory Tract Diseases |
| D012141 | Respiratory Tract Infections |
| D007239 | Infections |
| D001982 | Bronchial Diseases |
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| ID | Term |
|---|---|
| D001999 | Bronchoscopy |
| ID | Term |
|---|---|
| D003948 | Diagnostic Techniques, Respiratory System |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D004724 | Endoscopy |
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Specimens will be retained from both a blood draw and a bronchoscopy procedure.
|
|
| D008173 |
| Lung Diseases, Obstructive |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D002908 | Chronic Disease |
| D020969 | Disease Attributes |
| D012130 | Respiratory Hypersensitivity |
| D006969 | Hypersensitivity, Immediate |
| D006967 | Hypersensitivity |
| D007154 | Immune System Diseases |
| D003949 | Diagnostic Techniques, Surgical |
| D019060 | Minimally Invasive Surgical Procedures |
| D013514 | Surgical Procedures, Operative |
| D013510 | Pulmonary Surgical Procedures |
| D019616 | Thoracic Surgical Procedures |