Genomic Research in Sarcoidosis

Plain-language summary

This study investigated the genomic (genetic) basis of sarcoidosis. It included people aged 18-85 who had a diagnosis of sarcoidosis by consensus criteria or were scheduled for a biopsy to confirm the diagnosis. The study was carried out as a non-phase study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

University of Pittsburgh

Start date

5/1/2013

Estimated completion

9/1/2015

Countries

United States

Related genes

Locations

• Tucson, United States
• San Francisco, United States
• Denver, United States
• New Haven, United States
• Baltimore, United States
• Philadelphia, United States
• Pittsburgh, United States
• Charleston, United States
• Nashville, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

1. Age between the ages of 18 and 85.
2. Have a diagnosis of sarcoidosis established by consensus criteria (ATS/ERS), confirmed by either biopsy or by manifestations consistent with acute sarcoidosis (Löfgren's syndrome) in absence of other known diagnosis.

   OR Have a suspected diagnosis of sarcoidosis and is scheduled to undergo a biopsy procedure to confirm a diagnosis of sarcoidosis using the same consensus criteria (ATS/ERS).
3. Able to tolerate and willing to undergo study procedures.
4. Be capable of understanding study forms.
5. Provide signed informed consent.

Exclusion Criteria:

1. History of comorbid condition severe enough to significantly increase risks based on investigator discretion.
2. Currently an active smoker.
3. Undergoing bronchoscopy (clinical or research) with any one of the following:

   1. severe pulmonary impairment (\<50% predicted FVC, \<1 L FEV1; DLco \<40% predicted, resting hypoxemia \<92% with or without supplemental oxygen)
   2. other co-morbid disease that would preclude bronchoscopy.
   3. hypersensitivity to or intolerance of any of the drugs required for sedation during conscious sedation bronchoscopy.
4. Known systemic autoimmune disease such as rheumatoid arthritis, lupus, scleroderma, Sjögrens, etc.
5. Found to have an alternative interstitial lung disease during evaluation and/or screening.
6. Diagnosis of unstable cardiovascular disease including myocardial infarction in the past 6 weeks, uncontrolled congestive heart failure, or uncontrolled arrhythmia
7. Use of anticoagulation (patients on warfarin or clopidogrel will be excluded, patients on aspirin alone can be studied even with concurrent use)
8. Dementia or other cognitive dysfunction which in the opinion of the investigator would prevent the participant from consenting to the study or completing study procedures
9. Non-Sarcoidosis pulmonary disease (e.g., rheumatoid arthritis, lupus, scleroderma) that, in the opinion of the investigator, limits the interpretability of the analysis of sarcoidosis pulmonary disease
10. Primary biliary cirrhosis or autoimmune hepatitis
11. Crohn's disease
12. Chronic beryllium disease
13. Have an active bacterial or viral infection at time of screening.
14. Have an active or ongoing serious infection, including HIV, HBV and HCV
15. Active tuberculosis or are taking any medication for tuberculosis
16. Have a history of demyelinating diseases, lymphoproliferative diseases, or other malignancies other than presumed cured non-metastatic skin cancer
17. Have evidence of a likely malignancy on chest x-ray
18. Are currently pregnant at time of screening
19. Currently institutionalized (e.g., prisons, long-term care facilities)
20. Hypersensitivity to or intolerance of albuterol sulfate or propellants or excipients of the inhalers
21. History of Lung volume reduction surgery, lung resection or bronchoscopic lung volume reduction in any form.
22. History of lung or other organ transplant
23. Unable to comprehend consent document and/or questionnaires

Conditional Exclusions:

1. Participants who present with an upper respiratory infection or pulmonary exacerbation, either solely participant-identified or that has been clinically treated, in the last four weeks can be rescreened for the study once the four-week window has closed.
2. Participants who present with current use of acute antibiotics or have acute antibiotics within the past four weeks can be rescreened for the study ≥28 days after discontinuing acute antibiotics.
3. Female participants who present \<3 months after giving birth will be asked to reschedule their visit until three months have passed since the birth.
4. Former smoker who quit \< 3months prior to enrollment