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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05710393
Other study ID # IRB18-1861
Secondary ID
Status Recruiting
Phase
First received
Last updated
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
Health authority
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

Study Design


Related Conditions & MeSH terms


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
See also
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