Hidradenitis - an Analysis of Genetic Traits and Linkages in Families

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

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).

Study Overview

• Status: Terminated
• Conditions: Hidradenitis Suppurativa

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 97

Contacts and Locations

Study Locations

• United States
  • Illinois
    • Chicago, Illinois, United States, 60637
      • University of Chicago Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 7 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Participants with a history of Hidradenitis Suppurativa, and their biological family members.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Affected; (Affected) persons with a medical history of symptoms related to Hidradenitis Suppurativa.
Unaffected-control; (Unaffected) family of participants, having no history of symptoms related to Hidradenitis Suppurativa.

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: University of Chicago
• Investigators: Principal Investigator: Peter Nagele, MD, MSc, University of Chicago Medicine

Study record dates

Study Major Dates

• Study Start (Actual): September 17, 2019
• Primary Completion (Actual): February 27, 2026
• Study Completion (Actual): February 27, 2026

Study Registration Dates

• First Submitted: January 25, 2023
• First Submitted That Met QC Criteria: January 25, 2023
• First Posted (Actual): February 2, 2023

Study Record Updates

• Last Update Posted (Actual): March 4, 2026
• Last Update Submitted That Met QC Criteria: March 2, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: Abscess; HS; Hidradenitis Suppurativa; Acne inversa; Boils
• Additional Relevant MeSH Terms: Pathologic Processes; Infections; Inflammation; Skin Diseases; Gram-Positive Bacterial Infections; Bacterial Infections; Bacterial Infections and Mycoses; Sweat Gland Diseases; Skin Diseases, Bacterial; Skin Diseases, Infectious; Suppuration; Staphylococcal Skin Infections; Staphylococcal Infections; Hidradenitis; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Animal Diseases; Fish Diseases; Hidradenitis Suppurativa; Abscess; Furunculosis
• Other Study ID Numbers: IRB18-1861

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No