Hidradenitis - an Analysis of Genetic Traits and Linkages in Families

Study Overview
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Brief Summary
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The aim of this study is to find a genetic link or family trait connecting persons with Hidradenitis Suppurativa (HS) to each other. As a result, discover the cause and perhaps treatment for Hidradenitis Suppurativa (HS).

Detailed Description
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Hidradenitis suppurativa (HS) is a chronic, debilitating skin disease characterized by multiple abscesses located predominantly in areas such as armpit, genital, pelvic, and perineum. It is considered an orphan disease of unknown origin and no existing treatment with a population prevalence estimated between 1-4%. It develops in otherwise healthy patients after puberty and affects patients life-long. HS often requires multiple surgical procedures to drain large abscesses, or hospitalization to treat infected wounds, can lead to feelings of personal embarrassment and social stigmatization. Anecdotal evidence from affected families shows that HS often runs in families and may be inherited in a Mendelian fashion; however, no adequately powered study has been undertaken to investigate this hypothesis. This project aims to characterize the inheritance pattern of HS in families, and identify the genetic cause of this disease in those families with evidence for monogenic inheritance. Data collection includes blood sample analysis (DNA), medical history, and information pertaining to any known family history of HS, from which a familial pedigree can be generated. This 'family-based' genetic study design will include both affected and unaffected family members, ideally spanning several generations. Therefore, study patients will be asked to refer their immediate and extended (affected and unaffected) family members to this research study.

Official Title
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Hidradenitis Suppurativa - a Mendelian Trait? Genetic Pedigree and Linkage Analysis

Conditions
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Hidradenitis Suppurativa

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Participants (affected) with Hidradenitis Suppurativa and related symptoms Family (unaffected) of participants with Hidradenitis Suppurativa Exclusion Criteria: Children under 7-years of age

Ages Eligible for Study
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Minimum Age: 7 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Affected<br>(Affected) persons with a medical history of symptoms related to Hidradenitis Suppurativa. | |
| Unaffected-control<br>(Unaffected) family of participants, having no history of symptoms related to Hidradenitis Suppurativa. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Hidradenitis Suppurativa Genetic linkage | Determine the genetic linkage of Hidradenitis Suppurativa (HS). Measurements are based on Gene panel assays of DNA specimen (blood or saliva) to find rare variant(s) linked to HS. Specimen samples include those provided by affected participants, and when possible they're biological family. A Gene panel diagnostic determines the number of variants (or mutation) in multiple genes, potentially identifying a genetic linkage of mendelian inheritance. | 1-Day Study Participation | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Demographics of Participant Population | Compare demographic variables of the affected population to analyze HS symptom history. Statistical Analysis of data collected via participant interview: Gender (at birth) Race (ethnicity) Age (at symptom start) Health history (related to HS) Family history (related to HS) | 1-Day Study Participation | 
| Pattern of Affected Family | Measure inheritance proximity pattern of biologically related family, affected by HS symptoms. A 'Pedigree' will be generated using family history data collected during the study interview: Immediate family - parental, sibling, children Extended family (paternal vs maternal) - uncle, aunt, cousin Outcomes could span multiple generations. | 1-Day Study Participation | 
| Number of Variants Shared | Determine the number of shared rare variants (or mutations) in genes associated with HS, between affected participants and their family. Measured by Gene panel assay of DNA specimen (blood or saliva) A Gene panel diagnostic determines the number of variants (or mutation) in multiple genes, potentially identifying a genetic linkage of mendelian inheritance. | 1-Day Study Participation | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Hidradenitis Suppurativa, HS, Acne inversa, Abscess, Boils