Personalized Therapy of Patients Suffering From Rare Genodermatoses

Gewinnung, Kultur Und Studien Von primären Humanen Zelltypen, Geweben Und Blut für Die Gezielte Behandlung Von Seltenen Hauterkrankungen

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.

Study Overview

• Status: Recruiting
• Conditions: Rare Diseases
• Intervention / Treatment: 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).

• Study Type: Observational
• Enrollment (Anticipated): 25

Contacts and Locations

• Study Contact: Name: Monika Ettinger, MD PhD; Phone Number: 78654 +43 5 7680 83; Email: monika.ettinger@kepleruniklinikum.at
• Study Contact Backup: Name: Susanne Kimeswenger, PhD; Phone Number: 8953 +43 732 2468; Email: susanne.kimeswenger@jku.at

Study Locations

• Austria
  • Linz, Austria, 4020
    • Recruiting
    • Kepler University Hospital Linz
    • Contact: Monika Ettinger, MD PhD; Phone Number: 78654 +43 5 7680 83; Email: monika.ettinger@kepleruniklinikum.at
    • Contact: Susanne Kimeswenger, PhD; Phone Number: 8953 +43 732 2468; Email: susanne.kimeswenger@jku.at

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 80 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients suffering from rare genodermatoses.

Description

Inclusion Criteria:

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

Exclusion Criteria:

• none

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Improvement of disease as assessed by affected body surface area by 50 % upon off-label treatment with approved monoclonal antibody therapies	Severely affected consenting patients will be treated with approved monoclonal antibodies targeting exactly the cytokines that are increased in the patient's lesional skin.	12 months

Collaborators and Investigators

• Sponsor: Johannes Kepler University of Linz
• Investigators: Study Chair: Monika Ettinger, MD PhD, Kepler University Hospital Linz

Study record dates

Study Major Dates

• Study Start (Actual): March 18, 2022
• Primary Completion (Anticipated): December 31, 2024
• Study Completion (Anticipated): December 31, 2024

Study Registration Dates

• First Submitted: January 2, 2023
• First Submitted That Met QC Criteria: January 9, 2023
• First Posted (Estimate): January 11, 2023

Study Record Updates

• Last Update Posted (Estimate): January 11, 2023
• Last Update Submitted That Met QC Criteria: January 9, 2023
• Last Verified: January 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Rare Diseases; Physiological Effects of Drugs; Immunologic Factors; Antibodies
• Other Study ID Numbers: RAREDISEASE

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No