Autophagy Dysfunction in Hidradenitis Suppurativa (AUTOPH-HS)

• ClinicalTrials.gov Identifier: NCT05723757
• Recruitment Status: Not yet recruiting
• First Posted: February 13, 2023
• Last Update Posted: February 13, 2023
• Sponsor: Association pour la Recherche Clinique et Immunologique
• Information provided by (Responsible Party): Association pour la Recherche Clinique et Immunologique

Tracking Information

• First Submitted Date: February 1, 2023
• First Posted Date: February 13, 2023
• Last Update Posted Date: February 13, 2023
• Estimated Study Start Date: June 2023
• Estimated Primary Completion Date: June 2024 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: February 9, 2023)

Prevalence of 100 SNPs in genomic DNA (blood) associated with autophagy deficiency [ Time Frame: 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).

• Original Primary Outcome Measures: Same as current
• Change History: No Changes Posted

Current Secondary Outcome Measures (submitted: February 9, 2023)

• Prevalence of 100 SNPs in somatic DNA (skin) associated with autophagy deficiency in a cohort of moderate-to-severe HS patients [ Time Frame: 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. [ Time Frame: 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).

• Original Secondary Outcome Measures: Same as current
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Autophagy Dysfunction in Hidradenitis Suppurativa
• Official Title: Autophagy Dysfunction in Hidradenitis Suppurativa

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.

• Detailed Description: Not Provided
• Study Type: Interventional
• Study Phase: Not Applicable

Study Design

Allocation: N/A
Intervention Model: Single Group Assignment
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).

Masking: None (Open Label)
Primary Purpose: Diagnostic

• Condition: Hidradenitis Suppurativa (HS)

Intervention

Diagnostic Test: blood sampling

Draw a 8.5mL blood sample for detection of SNPs of genomic origin

Study Arms

Experimental: HS Patients

50 adult subjects suffering from moderate to severe HS, aged 18 to 65, diagnosed for at least 1 year

Intervention: Diagnostic Test: blood sampling

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Not yet recruiting
• Estimated Enrollment (submitted: February 9, 2023): 50
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: December 2024
• Estimated Primary Completion Date: June 2024 (Final data collection date for primary outcome measure)

Eligibility Criteria

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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 18 Years to 65 Years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Listed Location Countries: Not Provided

Administrative Information

• NCT Number: NCT05723757
• Other Study ID Numbers: 2022-A01516-37
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

IPD Sharing Statement

• Plan to Share IPD: No

• Current Responsible Party: Association pour la Recherche Clinique et Immunologique
• Original Responsible Party: Same as current
• Current Study Sponsor: Association pour la Recherche Clinique et Immunologique
• Original Study Sponsor: Same as current
• Collaborators: Not Provided
• Investigators: Not Provided
• PRS Account: Association pour la Recherche Clinique et Immunologique
• Verification Date: February 2023