Informations générales (source: ClinicalTrials.gov)
Clinical and Genetic Study of Familial Sarcoidosis (SARCFAM) (SARCFAM)
Observational
Hospices Civils de Lyon (Voir sur ClinicalTrials)
janvier 2008
septembre 2016
29 juin 2024
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:
1. Completion of the genetic data in order to establish a pattern of gene variants
segregating with familial forms of the disease, compared to sporadic one. This will
be done by WES (WHOLE EXOME) analysis on the previously collected DNA samples. The
informed consent for the patients included the information about the BTNL2 gene,
which has been already tested since 2008, and related genes connected to immune
pathways, thus allowing a unambiguous information about the research finality of the
project.
2. Completion of the clinical data about each patient, in cooperation with the GSF
network, management of the database established since 2008. The data collected are
those which are commonly detailed in the normal follow-up of the patients. The
project do not include any new interventions on the patient (neither radiological or
invasive tests).
3. Specific biological studies might be done on the white blood cells of the patients,
and might need in such cases a new blood sampling, both in patients and first degree
related healthy controls. Theses specific studies will be presented to an ethical
committee (CCP) in order to validate the feasibility in term of 'new intervention'
on the cohort. The samples collected will be at the same volume of a classical blood
sampling (2*7 ml).
4. Any other projects, submitted to the GSF network will needed a specific registration
and ethical committee validation.
Etablissements
| Les établissements hors Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| Hospices Civils de Lyon / Hopital Edouard Herriot - 69003 - Lyon - France | Yves Pacheco | Contact (sur clinicalTrials) | |||
Critères
Tous
Inclusion Criteria:
- patient affected by sarcoidosis, as defined by clinical criteria such as : chest
X-ray staging, pulmonary function tests, biological variables: serum calcium and
creatinine, bronchial alveolar lavage cell count and when available, an histological
confirmation of the granuloma by biopsy. The disease may be expressed initially as
uveitis, cutaneous or other anatomical sites involvement, which must be also
confirmed as sarcoidosis-related granuloma by competent pathologists.
- patient affected by sarcoidosis, as defined by clinical criteria such as : chest
X-ray staging, pulmonary function tests, biological variables: serum calcium and
creatinine, bronchial alveolar lavage cell count and when available, an histological
confirmation of the granuloma by biopsy. The disease may be expressed initially as
uveitis, cutaneous or other anatomical sites involvement, which must be also
confirmed as sarcoidosis-related granuloma by competent pathologists.
- Any other disease suggesting sarcoidosis and expressed by similar symptoms, as for
ex. hilar lymphadenopathy, other forms of uveitis, restrictive pulmonary syndromes
.. etc ....
- Any patients for which the follow-up was not available over the 8 year program of
the GSF SARCFAM
- age < 8 years old or > 80 years old