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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05680974
Other study ID # RAREDISEASE
Secondary ID
Status Recruiting
Phase
First received
Last updated
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
Health authority
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

Study Design


Related Conditions & MeSH terms


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
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