Clinical trial: Genomic Research in Sarcoidosis (NCT01831739)

Eligibility criteria:
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
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.
Subject must be at most 85 Years

Patient description (medical language): A 39-year-old woman comes to the clinic complaining of arthralgias and nodules on her legs.  She has no fever or other skin rashes. The prior medical condition is unremarkable, and she takes no medications.  On physical examination, there is moderate hepatomegaly. The lesions on her legs are tender and present predominantly on the anterior surface of the lower extremities. She doesn't smoke and drinks alcohol occasionally. The patient has 2 male sexual partners. Vital signs are normal. Chest x-ray demonstrates enlarged hilar lymph nodes, and laboratory testing reveals an elevated ACE level. Biopsy of the skin lesion shows noncaseating granulomas that stain negative for fungi & acid-fast bacilli.

Patient description (patient's own words): I'm just a 39-year-old young woman but lately I have noticed some underlying cysts on my legs and my joints were hurting so much. I don't have a fever. I don't have rashes. My medical history is totally clean and I don't take any medication. When I went to the clinic they did a physical examination where they found that my liver is enlarged. They also found that the lesions on my legs are kind of tender and they are located on the front side of my legs. I do not smoke and I drink alcohol occasionally. I have to male sexual partners. On the day of my visit my vitals were fine. I did an X-ray of my chest and I had swollen lymph nodes. I also has a blood test and it came back with a high ACE level. I also had a biopsy of my skin lesions that came back negative for fungi and AFB.

Does the patient match the trial criteria? 1