Personalized Therapy of Patients Suffering From Rare Genodermatoses

NCT05680974 | Unknown

• 1 other identifier: RAREDISEASE
• Study Type: observational
• Target: 25
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• 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

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). 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).

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients suffering from rare genodermatoses.

You may qualify if:

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

You may not qualify if:

• none

Sponsors & Collaborators

• Johannes Kepler University of Linz: lead

Study Sites (1)

Kepler University Hospital Linz

Linz, 4020, Austria

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

blood and skin biopsy samples

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Monika Ettinger, MD PhD

  Kepler University Hospital Linz

  STUDY CHAIR

Central Study Contacts

Monika Ettinger, MD PhD

CONTACT

+43 5 7680 83; monika.ettinger@kepleruniklinikum.at

Susanne Kimeswenger, PhD

CONTACT

+43 732 2468; susanne.kimeswenger@jku.at

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chair of the Department of Dermatology and Venerology

Study Record Dates

• First Submitted: January 2, 2023
• First Posted: January 11, 2023
• Study Start: March 18, 2022
• Primary Completion: December 31, 2024
• Study Completion: December 31, 2024
• Last Updated: January 11, 2023

Record last verified: 2023-01

Locations

AU (1)