Hidradenitis - an Analysis of Genetic Traits and Linkages in Families

NCT ID: NCT05710393

Last Updated: 2026-01-13

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 500 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2019-09-17
• Study Completion Date: 2027-12-01

Brief Summary

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

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.

Conditions

Hidradenitis Suppurativa

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Affected

(Affected) persons with a medical history of symptoms related to Hidradenitis Suppurativa.

No interventions assigned to this group

Unaffected-control

(Unaffected) family of participants, having no history of symptoms related to Hidradenitis Suppurativa.

No interventions assigned to this group

Eligibility Criteria

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

• Minimum Eligible Age: 7 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University of Chicago

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Peter Nagele, MD, MSc

Role: PRINCIPAL_INVESTIGATOR

University of Chicago Medicine

Locations

University of Chicago Medicine

Chicago, Illinois, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Frank Brown Jr

Role: CONTACT

ftbrownjr@uchicagomedicine.org

773-834-5778

Facility Contacts

Clinical Trials Manager

Role: primary

ftbrownjr@uchicagomedicine.org

773-834-5778

Other Identifiers

IRB18-1861

Identifier Type: -

Identifier Source: org_study_id