Hidradenitis Suppurativa (HS)
Conditions
Brief summary
The pathogenesis of HS is still poorly understood: the pilosebaceous tropism and the fact that patients respond to combinations of antibiotics and/or immunosuppressive treatments suggest the involvement of 3 factors that would be intimately linked: the presence of (i) a microbial dysbiosis, (ii) a dysfunction of the pilosebaceous apparatus and (iii) an inappropriate immune response. But how these 3 elements interact with each other remains unestablished, with few studies that have analyzed them from a kinetic point of view. Beyond a possible dysfunction of the pilosebaceous apparatus, we hypothesize a bacterial dysbiosis in connection with abnormalities of autophagy function with secondary development of an inappropriate immune response. Because of its functions of bacterial clearance and activation of local immune response, a defect in the autophagic process may be associated with the development of inflammatory pathologies related to microbial dysbiosis. Crohn's disease (CD), an inflammatory pathology of the gastrointestinal tract associated with intestinal dysbiosis, has been associated with alterations in autophagy, with approximately 50% of patients having single nucleotide polymorphisms (SNPs) associated with autophagy deficiency (Ellinghaus et al., 2013). The epidemiological association of CD/HS, the presence of skin dysbiosis and a chronic inflammatory response during HS, make us suspect a deficit of autophagic function in these patients, in a similar way to what is observed during Crohn's disease. The aim of this study is to analyze the frequency of 100 SNPs, reported to be associated with autophagy deficiency, in a cohort of moderate-to-severe HS patients.
Interventions
DIAGNOSTIC_TESTblood sampling
Draw a 8.5mL blood sample for detection of SNPs of genomic origin
Sponsors
Association pour la Recherche Clinique et Immunologique
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Intervention model description
This is an exploratory, intra-individual, prospective, mono-site study. This study is a category 2 study (interventional research with minimal risks and constraints).
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* Subject aged 18 to 65 years (included) * Subject diagnosed with HS for at least 1 year * Subject diagnosed with moderate-to-severe HS defined by HS PGA≥3 * Subject presenting an HS with inflammatory phenotype defined by the presence of folliculitis, nodules and/or abcesses * Subject suffering from at least 4 flares/year and presenting 5 active inflammatory lesions (nodules and/or abcesses) * Subject able to read, understand and give documented informed consent * Subject willing and able to comply with the protocol requirements for the duration of the study * Subject with health insurance coverage according to local regulations
Exclusion criteria
* \- Pregnancy or breast-feeding women * Subject currently experiencing or having a history of other concomitant skin or systemic inflammatory conditions that could constitute a bias (i.e. psoriasis, Crohn's Disease, etc.) * Subject with any additional condition that, in the opinion of the investigator, may interfere with the assessment or put the subject at risk * Linguistic or mentally incapacity to sign the consent form * Subject protect by the law (adult under guardianship, or hospitalized in a public or private institution for a reason other than study, or incarcerated) * Subject in an exclusion period from a previous study or who is participating in another clinical trial using a drug
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of 100 SNPs in genomic DNA (blood) associated with autophagy deficiency | Day 0 | Prevalence of 100 SNPs in genomic DNA (blood) associated with autophagy deficiency in a cohort of moderate-to-severe HS patients The prevalence of these SNPs will be compared with the prevalence observed in a population suffering from Crohn's Diseases (Ellinghaus et al., 2013). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of 100 SNPs in somatic DNA (skin) associated with autophagy deficiency in a cohort of moderate-to-severe HS patients | Day 0 | The prevalence of these SNPs will be compared with the prevalence of SNPs in genomic DNA (blood) Prevalence of 100 SNPs associated with autophagy deficiency in genomic DNA (blood) and somatic DNA (skin) |
| Prevalence of 100 SNPs in genomic DNA (blood) and somatic DNA (Skin) associated with autophagy deficiency according to severity of disease. | Day 0 | Prevalence of 100 SNPs in genomic DNA (blood) associated with autophagy deficiency according to severity of disease. The severity of HS disease will be evaluated through clinical scores (HS PGA scale, IH-S4 score, Hurley stage or refined Hurley) or quality of life score (DLQI). Prevalence of 100 SNPs in somatic DNA (skin) associated with autophagy deficiency according to severity of disease. The severity of HS disease will be evaluated through clinical scores (HS PGA scale, IH-S4 score, Hurley stage or refined Hurley) or quality of life score (DLQI). Prevalence of 100 SNPs associated with autophagy deficiency in genomic DNA (blood) and somatic DNA (skin), according to severity of disease. The severity of HS disease will be evaluated through clinical scores (HS PGA scale, IH-S4 score, Hurley stage or refined Hurley) or quality of life score (DLQI). |
Outcome results
None listed