Hidradenitis - an Analysis of Genetic Traits and Linkages in Families

Hidradenitis Suppurativa Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05710393
• Other study ID #: IRB18-1861
• Status: Recruiting
• Start date: September 17, 2019
• Est. completion date: December 2026

Study information

• Verified date: May 2024
• Source: University of Chicago
• Contact: Frank Brown Jr
• Phone: 773-834-5778
• Email: ftbrownjr[@]uchicagomedicine.org
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: December 2026
• Est. primary completion date: December 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 7 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Hidradenitis
• Hidradenitis Suppurativa

Locations

Country	Name	City	State
United States	University of Chicago Medicine	Chicago	Illinois

Sponsors (1)

Lead Sponsor	Collaborator
University of Chicago

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	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
Secondary	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
Secondary	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