There is no cure for the inflammatory disease sarcoidosis. Virtually any part of the body can be affected but most often the lungs and lymph nodes. Outcomes after diagnosis vary widely among sarcoidosis patients, with some experiencing resolving disease and others developing chronic disease and lung fibrosis. Cardiac sarcoidosis can lead to life threatening arrythmias and calcium metabolism disturbances can lead to renal impairment. Treatment with different forms of immunosuppressants are usually tried to dampen symptoms but are not effective in all patients. Furthermore, the disease usually flares up after cessation of treatment. The variability in diseae course and treatment response is thought, at least to some degree, to be explained by individual differences in genetics, immune cells and signaling pathways. But existing evidence is limited. In other inflammatory diseases the gut microbiome is of importance for disease course but its role in sarcoidosis has not been clarified. In this prospective project the investigators will study genes, inflammatory cells and signaling molecules in the lung, upper airways and blood, and to some extent microbes, also in faeces. Healthy volunteers will be included for comparative studies. Most samples will be taken during normal diagnostic work-up and follow-up of patients with/with suspected sarcoidosis. The findings will be correlated to disease course and effects of different treatments. By linking to national health data and demographic registries, comorbidities and environmental factors will be correlated to data. By this, the investigators hope to improve understanding of which genes, cells and signaling molecules that are of importance for resolving vs non-resolving disease and why some patients respond to a certain treatment and others don´t. The overall goal is to assess and predict sarcoidosis outcomes. We hypothesize that blood-based biomarkers including those taken during routine care as well as novel cell, signaling molecules and genetic markers, in combination with clinical characteristics can be used to predict outcomes, also treatment response, in sarcoidosis. The results can lead to tailored treatment and individual follow-up for each patient with sarcoidosis.
Study Type
OBSERVATIONAL
Enrollment
5,000
1. Repeated peripheral blood sampling at diagnostic and follow-up visits, in total a maximum of 400 ml/year but never more than 100 ml/ month. 2. Upper airway sampling wih swab, aspirate and curettage, maximum 3 times/year. 3. Faeces sampling, the patients do this themselves and leave it to the research unit, maximum 3 times/year. 4. Bronchoscopy with lavage and a maximum of 6 mucosal biopsies before and after 6-12 months treatment.
Karolinska University Hospital
Stockholm, Sweden
RECRUITINGDisease activity
This refers to cardiac sarcoidosis and is estimated with PET-CT
Time frame: 3 months and 12 months
Number of participants with resolving vs non-resolving disease
Data will be collected from the medical record wether the disease resolved or not
Time frame: 2 and 5 years from baseline
Number of participants with immunosuppressive treatment
Data on treatment will be collected from the medical record
Time frame: 5 years
Number of participants with more than 10% change from enrollment in percent of predicted Forced Expiratory Volume in one second (L/s) at 5 years
Measured with spirometry
Time frame: Baseline and 5 years
Change from enrollment in Immunoglobulin G (g/L) at 5 years
Measured in serum
Time frame: Baseline and 5 years
Change from enrollment in fatigue at 5 years
The Fatigue Assessment Scale will be used. Maximum score is 50 and minimum 10. A higher score means more fatigue.More than 22 points means the participant suffers from fatigue and more than 34 extreme fatigue.
Time frame: Baseline and 5 years
Change from enrollment of radiographic findings at 5 years
Chest X-ray will be classified according to Scadding staging
Time frame: Baseline and 5 years
Change from enrollment of angiotensin converting enzyme (E/L) at 5 years
Measured in serum
Time frame: Baseline and 5 years
Change from enrollment of soluble Interleukin Receptor 2 (U/ml) at 5 years
Measured in serum
Time frame: Baseline and 5 years
Change from enrollment of complete blood cell count (/10x9 L) at 5 years
Measured in blood
Time frame: Baseline and 5 years
Change from enrollment of creatinine levels (micromol/L) at 5 years
Measured in plasma
Time frame: Baseline and 5 years
Change from enrollment of C-reactive protein (mg/L) at 5 years
Measured in serum
Time frame: Baseline and 5 years
Number of patients with more than 10% change from enrollment in percent of predicted Diffusing capacity of the Lungs for Carbon Monoxide (%) at 5 years
Measured with spirometry
Time frame: Baseline and 5 years
Number of participants with more than 10% change from enrollment in percent of predicted Forced Vital Capacity (L) at 5 years
Measured with spirometry
Time frame: Baseline and 5 years
Change from enrollment of calcium levels (mmol/L) at 5 years
Measured in serum
Time frame: Baseline and 5 years
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.