Identifying genetic causes of inflammatory skin diseases
Case-Control Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
University Hospital, Basel, Switzerland · NCT05732987
This study is trying to find out if certain genetic changes cause inflammatory skin diseases by looking at DNA from people with these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 3370 (estimated) |
| Ages | 18 Years to 100 Years |
| Sex | All |
| Sponsor | University Hospital, Basel, Switzerland (other) |
| Locations | 1 site (Basel) |
| Trial ID | NCT05732987 on ClinicalTrials.gov |
What this trial studies
This observational study aims to uncover rare, disease-causing mutations associated with neutrophil-mediated inflammatory dermatoses (NMID). Utilizing next-generation sequencing, particularly whole exome sequencing, the study will explore genetic variants linked to these conditions. Additionally, it will assess the expression levels of known inflammatory proteins in skin samples to further understand the disease mechanisms. The research will involve collecting biological material and health-related data from participants diagnosed with NMID or serving as controls.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with neutrophil-mediated inflammatory dermatoses or those who are probands in the control group.
Not a fit: Patients without a diagnosis of NMID or those unable to provide informed consent will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and potential targeted therapies for patients suffering from severe inflammatory skin diseases.
How similar studies have performed: While the genetic basis of some inflammatory skin diseases has been explored, this specific approach using whole exome sequencing for NMID is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * written consent of the participating person * diagnosis of a disease in the NMID form group or proband of the control group Exclusion Criteria for patients: * Missing informed consent if samples collected after 2014 * no diagnosis of NMID Exclusion Criteria for healthy controls: * Missing informed consent
Where this trial is running
Basel
- University Hospital Basel, Clinic of Dermatology — Basel, Switzerland (RECRUITING)
Study contacts
- Principal investigator: Alexander Navarini, Prof. Dr. med. — University Hospital Basel, Clinic of Dermatology
- Study coordinator: Alexander Navarini, Prof. Dr. med.
- Email: alexander.navarini@usb.ch
- Phone: +41 61 265 40 84
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Neutrophil-mediated Inflammatory Dermatoses, Inflammatory Dermatoses, inflammasome, inflammation-driving pathway, gene variants, next generation sequencing