Hidradenitis Suppurativa
Conditions
Keywords
Hidradenitis Suppurativa, HS, Acne inversa, Abscess, Boils
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.
Interventions
None listed
Sponsors
University of Chicago
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
7 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Hidradenitis Suppurativa Genetic linkage | 1-Day Study Participation | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Demographics of Participant Population | 1-Day Study Participation | 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) |
| Pattern of Affected Family | 1-Day Study Participation | 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. |
| Number of Variants Shared | 1-Day Study Participation | 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. |
Countries
United States
Contacts
PRINCIPAL_INVESTIGATORPeter Nagele, MD, MSc
University of Chicago Medicine
Outcome results
None listed