Clinical trial NCT04751279: Expression and Role of the JAK/STAT Pathway in Sarcoidosis Granuloma Cells
Official title: Expression and Role of the JAK/STAT Pathway in Sarcoidosis Granuloma Cells
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Sarcoidosis
JAK-STAT Pathway Deregulation
Keywords: Sarcoidosis
JAK/STAT
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2021-02-12
Enrollment: 80
Sex: ALL
Minimum age (years): 18
Maximum age (years): 80
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with mediastino-pulmonary sarcoidosis receiving or not receiving treatment for their sarcoidosis. Subjects treated for their sarcoidosis (corticosteroids and/or immunosuppressants) are not excluded because of two recent cases reported of multi-treated patients in which an involvement of the JAK/STAT pathway was demonstrated.

Brief summary: Recent studies suggest that the JAK/STAT signaling pathway constitutes a new step in the clinical and therapeutic progress of sarcoidosis. Further investigations are necessary to identify the most suitable patients to receive treatment targeting this pathway, in particular in cases of severe sarcoidosis refractory to the various therapeutic lines.

Detailed description: The investigators hypothesize that the JAK/STAT signaling pathway constitutes a new step in the clinical and therapeutic progress of sarcoidosis, in particular in cases of severe sarcoidosis refractory to the various therapeutic lines. The main objective of this proposal is to evaluate the presence and stage of activation of the JAK/STAT pathway in PBMCs from inactive and active sarcoidosis patients. The second objective will be to determine the role of the JAK/STAT pathway in the formation and maintenance of granulomas and their association with the severity of sarcoidosis and fibrogenesis.

Eligibility criteria: Inclusion Criteria:

* Patients with a diagnosis of mediastinopulmonary sarcoidosis made according to ATS / ERS / WASOG criteria
* Or patient suspected of having mediastino-pulmonary sarcoidosis, without any other probable causal factor identified on the usual standard examination at the time of the sample with the need for diagnostic confirmation at the end of the study according to the criteria of the ATS / ERS / WASOG
* Sarcoidosis with stage 1 to 4 pulmonary involvement
* Patients who had a chest CT scan in the 6 months preceding the sample. Examination carried out as part of routine care

Exclusion Criteria:

* Pregnancy.
* Opposition expressed to participation in the study.
* Patients on State Medical Aid.

Primary outcomes:
measure: JAK/STAT familly numbers protein expression in PBMCs
timeFrame: 1 year after inclusion
Secondary outcomes:
Other outcomes:
Locations:
city: Bobigny
country: France
facility: Service de pneumologie Hôpital Avicenne
Study officials:
affiliation: Assistance Publique - Hôpitaux Paris
name: Florence JENY, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Rotenberg C, Besnard V, Brillet PY, Giraudier S, Nunes H, Valeyre D. Dramatic response of refractory sarcoidosis under ruxolitinib in a patient with associated JAK2-mutated polycythemia. Eur Respir J. 2018 Dec 20;52(6):1801482. doi: 10.1183/13993003.01482-2018. Print 2018 Dec. No abstract available.