An observational study in Sarcoidosis, sponsored by Hospices Civils de Lyon. Status unknown at 1 site in France. Open to participants aged 8 Years to 80 Years. Per ClinicalTrials.gov, last updated 2016-07-12.
Sponsored by Hospices Civils de Lyon · Observational
Major impacts of air pollution are lung diseases such as granulomatous diseases and mainly sarcoidosis. Understanding the respective role of inorganic / nanoparticles and genetic background in these chronic diseases is a major challenge for the management of patients and prevention strategies. Granulomas are characterized by giant epithelioid and multinucleated cells, reflecting a severe disturbance in immunological pathways induced both by toxic exposure and genetic predisposition. Previous studies demonstrated that professional environmental context and acute exposures (the World Trade Center disaster) to micro/nanoparticles have a pathogenic impact with a sharp increase in sarcoidosis. Sarcoidosis is a multifactorial disease occurring in a genetically vulnerable context. Many gene variants have been linked to an increased odds-ratio of the disease, such BTNL2, CCDC88B, ANNEXIN A11 involved in regulation of T-cell activation and maturation pathways. We have contributed since 2008 to a national cohort (GSF, 28 centers) of ≈ 800 sarcoidosis patients with familial and sporadic presentation of the disease. This collection has been an exceptional (and worldwide unique) tool for the implementation of an exhaustive clinical database on sarcoidosis, modelling of disease evolution and identification of clinical / genetic criteria differentiating sporadic and familial forms.
The main goals of the project are:
278 studies on the registry are indexed under Sarcoidosis; 57 are open to participants now.
This study's planned enrollment of 800 is above the median of 125 across 106 observational studies indexed under Sarcoidosis.
Browse Sarcoidosis studies →Hospices Civils de Lyon is the lead sponsor of 1,826 studies on the registry; 439 are open to participants now.
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patient affected by sarcoidosis
Exclusion Criteria:
Sporadic cases are defined as patients diagnosed for sarcoidosis, for which the familial history did not reveal any other cases, whatever the relative degree is: 1, 2, 3 or 4. The clinical follow-up and the genetic studies performed in the frame of this project are the same as for the familial group. During the regular follow-up, patients are regularly questioned about the putative occurrence of the disease in their family, and if such a situation occurred, the patient (and his relative) may change from the SP to the familial (FAM) group. In blood samples, genetic analysis by SANGER and WHOLE EXOME NEXT GENERATION SEQUENCING will be done.
Genetic: Genetic analysis by SANGER and WHOLE EXOME NEXT GENERATION SEQUENCING
Familial cases are defined as patients diagnosed for sarcoidosis with a first and/or second degree relative parent also affected by a well-proven sarcoidosis syndrome. More than 70% of SARCFAM families included two first-degree affected individuals, with both a vertical or horizontal transmission. The Mendelian trait seems to be autosomal dominant. 20 to 30% of the families consists of 3, 4 or more cases, with a subset of families including more than 5 cases. Patients are managed as for the sporadic one, and in such families, an informed consent was also provided with a clear explanation on the complexity of the genetic background of the disease. In blood samples, genetic analysis by SANGER and WHOLE EXOME NEXT GENERATION SEQUENCING will be done.
Genetic: Genetic analysis by SANGER and WHOLE EXOME NEXT GENERATION SEQUENCING
Patients with sarcoidosis patients are monitored in the regular follow-up in one of 28 GSF clinical centers. Blood sampling was performed in two 5ml classical heparinized tube, as used for red/white/platelets blood cells analysis. The patients receive complete information on the SARCFAM protocol and sign an informed consent stating that the genetic study will be conducted on the BTNL2 gene and genes related to immunity, including loci other than BTNL2.DNA was extracted from a 1-5 ml sample of blood and stored in frozen conditions until analysis. Genomic DNA is captured using Agilent in-solution enrichment methodology (Human Clinical Research Exome, Agilent) with their biotinylated oligonucleotides probes library, followed by paired-end 75 bases massively parallel sequencing on Illumina HiSEQ 400. For each genomic position, the exomic frequencies (Homo \& HTZ) are determined from all the exomes already sequenced and/or the exome results provided by 1000G, EVS, HapMap database.
number of mutations founded in the IL34-TIAM gene
Determination of the number of mutations founded in the IL34-TIAM gene which has been described as involved in the formation of granuloma, a key lesion of sarcoidosis
Time frame: Day 0
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Hospices Civils de Lyon