MedTrace Logo

Personalized Therapy of Patients Suffering From Rare Genodermatoses

NCT05680974 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 25

Last updated 2023-01-11

No results posted yet for this study

Summary

Rare skin diseases are generally defined as serious life-threatening, progressive chronic diseases of the skin that occur extremely rarely (i.e., 5 in 10,000 people are affected). More than 80% are hereditary. In most cases, late diagnosis and the lack of therapeutic strategies also contribute to severe disease progression. Therefore, new therapeutic options are urgently needed and with them knowledge of the underlying mechanisms of disease development.

The aim of this project is to better understand disease mechanisms and to identify new pathways and drug targets that will improve patient care or therapy. In order to investigate the mechanisms of disease development, it is necessary to isolate biological material, i.e. blood and affected skin tissue from patients. For this purpose, adults 18 years of age and older with a congenital rare skin disease are included. We take blood and (lesional) skin biopsies from patients to perform immunoprofiling, as well as cell biological studies with the patient's cells. The risk for the patients is low, as only peripheral blood and skin biopsies are taken. Potential risks include bruising and pain as well as infection, postoperative bleeding, wound infection or delayed wound healing, pain, and scarring.

The samples are pseudonymized and stored with the pseudonym only. Cells and skin samples are only preserved with the prior consent of the patient.

Conditions

Interventions

OTHER

If a targetable cytokine is increased in the lesional skin of a patient, this patient is treated with the respective antibody therapy (off-label use of approved drug).

If a targetable cytokine is increased in the lesional skin of a patient, this patient is treated with the respective antibody therapy (off-label use of approved drug).

Sponsors & Collaborators

  • Johannes Kepler University of Linz

    lead OTHER

Principal Investigators

  • Monika Ettinger, MD PhD · Kepler University Hospital Linz

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-03-18
Primary Completion
2024-12-31
Completion
2024-12-31

Countries

  • Austria

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05680974 on ClinicalTrials.gov