Immunological Mechanisms in Sarcoidosis
NCT Number: NCT06576505
Status: RECRUITING
Study Type: OBSERVATIONAL
Conditions: Sarcoidosis
Interventions: PROCEDURE: peripheral blood sampling, bronchoscopy, upper airway and faeces sampling
Sponsor: Region Stockholm
Collaborators: Karolinska Institutet
Sex: ALL
Age: ADULT, OLDER_ADULT
Enrollment: 5000
Study Design: Observational Model: |Time Perspective: p
Start Date: 2024-07-07
Completion Date: 2034-12-31
Locations: Karolinska University Hospital, Stockholm, 171 76, Sweden

Summary:
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.

Primary Outcome Measures: Number of participants with >10% change in percent of predicted Forced Vital Capacity, Forced Expiratory Volume in one second and Diffusing capacity of the Lungs for Carbon Monoxide, Measured with spirometry, 5 years|Change of biomarkers, Serum measurement of angiotensin converting enzyme (E/L) and soluble Interleukin Receptor 2 (U/ml), 5 years|Change in blood chemistry data, Measurement of complete blood cell count (/10x9 L), creatinine in plasma (micromol/L), Immunoglobulin G in serum (g/L), C-reactive protein in serum (mg/L), 5 years|Change in calcium levels in serum, Measurement of ionized calcium in serum, 5 years|Number of participants with immunosuppressive treatment, Data on treatment will be collected from the medical record, 5 years|Number of participants with resolving vs non-resolving disease, Data will be collected from the medical record wether the disease resolved within 2 years or not., 5 years|Change in fatigue, The Fatigue Assessment Scale will be used. Maximum score is 50 and minimum 10. A higher score means more fatigue. \>22 points means the participant suffers from fatigue and \>34 extreme fatigue., 5 years|Disease activity, This refers to cardiac sarcoidosis and is estimated with PET-CT, 3 months and 12 months|Change of radiographic findings, Chest X-ray will be classified according to Scadding staging, 5 years