Hidradenitis SuppurativaNCT05710393
Hidradenitis - an Analysis of Genetic Traits and Linkages in Families
An observational study of Hidradenitis Suppurativa, run by University of Chicago at 1 site in United States.
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). Read more about this study
- Who is it for?
- Ages 7 years and older
- Conditions the study is for
- Hidradenitis Suppurativa
- How many people
- 97 participants
- Where
- 1 siteUnited States
- Study dates
- 17 Sep 2019to 27 Feb 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants with a history of Hidradenitis Suppurativa, and their biological family members.
Who may be able to join
- Participants (affected) with Hidradenitis Suppurativa and related symptoms
- Family (unaffected) of participants with Hidradenitis Suppurativa
Who cannot join
- Children under 7-years of age
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Chicago Medicine
Chicago, Illinois, 60637
About this study
Official title: Hidradenitis Suppurativa - a Mendelian Trait? Genetic Pedigree and Linkage Analysis
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).
Read the 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
- Keywords
- Hidradenitis Suppurativa, HS, Acne inversa, Abscess, Boils
- Medical subject headings
- Hidradenitis Suppurativa, Abscess, Furunculosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Affected | (Affected) persons with a medical history of symptoms related to Hidradenitis Suppurativa. | |
| Unaffected-control | (Unaffected) family of participants, having no history of symptoms related to Hidradenitis Suppurativa. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 1-Day Study Participation
Secondary outcomes (3)
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)
Measured: 1-Day Study Participation
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.
Measured: 1-Day Study Participation
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.
Measured: 1-Day Study Participation
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Feb 2023
- Study start17 Sep 2019
- Primary completion27 Feb 2026
- Study completion27 Feb 2026
Why it stopped: PI has left the university
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hidradenitis SuppurativaStudies of the same condition, open and under way.
- More trials run by University of ChicagoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 97 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Chicago
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Peter Nagele, MD, MSc, Principal investigator, University of Chicago Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05710393
- Sponsor's protocol ID
- IRB18-1861
- Status last verified
- Mar 2026
- First submitted
- 25 Jan 2023
- Last updated
- 4 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Hidradenitis Suppurativa - a Mendelian Trait? Genetic Pedigree and Linkage Analysis
- ClinicalTrials.gov ID
- NCT05710393
- Acronym / sponsor ID
- IRB18-1861
- Conditions
- Hidradenitis Suppurativa
- Keywords
- Hidradenitis Suppurativa, HS, Acne inversa, Abscess, Boils
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: PI has left the university
- Enrolment
- 97 participants (actual)
- Lead sponsor
- University of ChicagoUniversity, hospital or other
- Study start
- 17 Sep 2019 (actual)
- Primary completion
- 27 Feb 2026 (actual)
- Study completion
- 27 Feb 2026 (actual)
- First posted
- 2 Feb 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Affected | – | –(Affected) persons with a medical history of symptoms related to Hidradenitis Suppurativa. |
| Unaffected-control | – | –(Unaffected) family of participants, having no history of symptoms related to Hidradenitis Suppurativa. |
Who may qualify
- Ages
- 7 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants with a history of Hidradenitis Suppurativa, and their biological family members.
Key inclusion criteria (2 listed)
- Participants (affected) with Hidradenitis Suppurativa and related symptoms
- Family (unaffected) of participants with Hidradenitis Suppurativa
Key exclusion criteria (1 listed)
- Children under 7-years of age
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Hidradenitis Suppurativa Genetic linkage
Time frame: 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.
3 secondary outcomes
Demographics of Participant Population
Time frame: 1-Day Study Participation
Pattern of Affected Family
Time frame: 1-Day Study Participation
Number of Variants Shared
Time frame: 1-Day Study Participation
Results and safety
The study was stopped early (reason given: PI has left the university). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Mar 2026.
- Individual participant dataSharing planned: No
Related trials for Hidradenitis Suppurativa
Not yet recruiting
Early Pathophysiology of Hidradenitis Suppurativa and Prediction of the Risk of Progression: a Prospective Cohort
Hidradenitis Suppurativa (HS)
Active, not recruitingPhase 2
A Study of Zasocitinib in Adults With Hidradenitis Suppurativa
Hidradenitis Suppurativa
Active, not recruiting
Acceptability of MBSR for People With HS
Hidradenitis Suppurativa (HS)
RecruitingPhase 3
Rollover Study for Participants Previously Enrolled in Clinical Trials of Povorcitinib
Hidradenitis Suppurativa (HS)
RecruitingPhase 2
ORKA-002 Versus Placebo in Participants With Moderate-to-Severe Hidradenitis Suppurativa
Hidradenitis Suppurativa (HS)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Peter Nagele, MD, MSc principal investigator
University of Chicago Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hidradenitis Suppurativa, run by University of Chicago at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 4 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: PI has left the university). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Hidradenitis Suppurativa Genetic linkage (time frame: 1-Day Study Participation). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Mar 2026.