Personalized Therapy of Patients Suffering From Rare Genodermatoses

NCT ID: NCT05680974

Last Updated: 2023-01-11

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 25 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-03-18
• Study Completion Date: 2024-12-31

Brief 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

Rare Diseases

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Interventions

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).

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• age of 18
• rare disease is known or suspected
• patent consent

Exclusion Criteria

• none

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Johannes Kepler University of Linz

OTHER

Sponsor Role: lead

Responsible Party

Wolfram Hoetzenecker

Chair of the Department of Dermatology and Venerology

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Monika Ettinger, MD PhD

Role: STUDY_CHAIR

Kepler University Hospital Linz

Locations

Kepler University Hospital Linz

Linz, , Austria

Site Status: RECRUITING

Countries

Austria

Central Contacts

Monika Ettinger, MD PhD

Role: CONTACT

monika.ettinger@kepleruniklinikum.at

+43 5 7680 83 ext. 78654

Susanne Kimeswenger, PhD

Role: CONTACT

susanne.kimeswenger@jku.at

+43 732 2468 ext. 8953

Facility Contacts

Monika Ettinger, MD PhD

Role: primary

monika.ettinger@kepleruniklinikum.at

+43 5 7680 83 ext. 78654

Susanne Kimeswenger, PhD

Role: backup

susanne.kimeswenger@jku.at

+43 732 2468 ext. 8953

Other Identifiers

RAREDISEASE

Identifier Type: -

Identifier Source: org_study_id