Clinical trial NCT05710393: Hidradenitis - an Analysis of Genetic Traits and Linkages in Families
Official title: Hidradenitis Suppurativa - a Mendelian Trait? Genetic Pedigree and Linkage Analysis
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Hidradenitis Suppurativa
Keywords: Hidradenitis Suppurativa
HS
Acne inversa
Abscess
Boils
Lead sponsor: University of Chicago
Sponsor class: OTHER
First posted: 2023-02-02
Enrollment: 500
Sex: ALL
Minimum age (years): 7
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: CROSS_SECTIONAL
Sampling method: PROBABILITY_SAMPLE
Study population: Participants with a history of Hidradenitis Suppurativa, and their biological family members.

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.

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

Primary outcomes:
measure: Hidradenitis Suppurativa Genetic linkage
timeFrame: 1-Day Study Participation
Secondary outcomes:
measure: Demographics of Participant Population
timeFrame: 1-Day Study Participation
measure: Pattern of Affected Family
timeFrame: 1-Day Study Participation
measure: Number of Variants Shared
timeFrame: 1-Day Study Participation
Other outcomes:
Locations:
city: Chicago
country: United States
facility: University of Chicago Medicine
state: Illinois
Study officials:
affiliation: University of Chicago Medicine
name: Peter Nagele, MD, MSc
role: PRINCIPAL_INVESTIGATOR
References: