Personalized Therapy of Patients Suffering From Rare Genodermatoses

Rare Diseases Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05680974
• Other study ID #: RAREDISEASE
• Status: Recruiting
• Start date: March 18, 2022
• Est. completion date: December 31, 2024

Study information

• Verified date: January 2023
• Source: Johannes Kepler University of Linz
• Contact: Monika Ettinger, MD PhD
• Phone: +43 5 7680 83
• Email: monika.ettinger[@]kepleruniklinikum.at
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 25
• Est. completion date: December 31, 2024
• Est. primary completion date: December 31, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 80 Years

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• none

Related Conditions & MeSH terms

• Rare Diseases

Intervention

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).

Locations

Country	Name	City	State
Austria	Kepler University Hospital Linz	Linz

Sponsors (1)

Lead Sponsor	Collaborator
Johannes Kepler University of Linz

Country where clinical trial is conducted

Austria, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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