Rare DiseasesNCT05680974
Personalized Therapy of Patients Suffering From Rare Genodermatoses
An observational study of Rare Diseases, run by Johannes Kepler University of Linz at 1 site in Austria.
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. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Rare Diseases
- What is being tested?
- 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).
- How many people
- 25 participants
- Where
- 1 siteAustria
- Study dates
- 18 Mar 2022to 31 Dec 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients suffering from rare genodermatoses.
Who may be able to join
- age of 18
- rare disease is known or suspected
- patent consent
Who cannot join
- none
Trial locations and contacts
1 site in 1 country.
Austria1 site, 1 recruiting
- Recruiting
Kepler University Hospital Linz
Linz, 4020
Monika Ettinger, MD PhD, +43 5 7680 83 ext. 78654, monika.ettinger@kepleruniklinikum.at
Susanne Kimeswenger, PhD, +43 732 2468 ext. 8953, susanne.kimeswenger@jku.at
About this study
Official title: 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.
- Conditions
- Rare Diseases
- Being tested
- 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).
- Medical subject headings
- Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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).
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jan 2023
- Study start18 Mar 2022
- Primary completion31 Dec 2024 (estimated)
- Study completion31 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Johannes Kepler University of Linz
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Wolfram Hoetzenecker, Johannes Kepler University of Linz
- Investigators
- Monika Ettinger, MD PhD, Study chair, Kepler University Hospital Linz
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05680974
- Sponsor's protocol ID
- RAREDISEASE
- Status last verified
- Jan 2023
- First submitted
- 2 Jan 2023
- Last updated
- 11 Jan 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 11 Jan 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Gewinnung, Kultur Und Studien Von primären Humanen Zelltypen, Geweben Und Blut für Die Gezielte Behandlung Von Seltenen Hauterkrankungen
- ClinicalTrials.gov ID
- NCT05680974
- Acronym / sponsor ID
- RAREDISEASE
- Conditions
- Rare Diseases
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- Johannes Kepler University of LinzUniversity, hospital or other
- Study start
- 18 Mar 2022 (actual)
- Primary completion
- 31 Dec 2024 (estimated)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 11 Jan 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients suffering from rare genodermatoses.
Key inclusion criteria (3 listed)
- age of 18
- rare disease is known or suspected
- patent consent
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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). | Other | – |
Primary outcome
Improvement of disease as assessed by affected body surface area by 50 % upon off-label treatment with approved monoclonal antibody therapies
Time frame: 12 months
Severely affected consenting patients will be treated with approved monoclonal antibodies targeting exactly the cytokines that are increased in the patient's lesional skin.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Jan 2023.
- Individual participant dataSharing planned: Undecided
Related trials for Rare Diseases
Not yet recruitingObservational study
Automated Capture of Core Data for Rare Diseases and Glucocorticoid Complications: Biomarkers and Patient-Reported Outcomes
Cushing s Syndrome, Glucocorticoid Effect
RecruitingObservational study
Genome Medical Sequencing for Gene Discovery
Intellectual Disabilities, Congenital Anomaly
RecruitingObservational study
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
Undiagnosed Diseases, Rare Diseases
RecruitingObservational study
Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease
Rheumatic Disease
Not yet recruiting
Neurogenetics and Multi-omics of Neuroinflammatory Diseases in Multiplex Families to Improve Patients Health
Multiple Sclerosis, Neuromyelitis Optica Spectrum Disorder
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Monika Ettinger, MD PhD study chair
Kepler University Hospital Linz
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases, run by Johannes Kepler University of Linz at 1 site in Austria.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 11 Jan 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Austria. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Monika Ettinger, MD PhD (+43 5 7680 83 ext. 78654, monika.ettinger@kepleruniklinikum.at), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Improvement of disease as assessed by affected body surface area by 50 % upon off-label treatment with approved monoclonal antibody therapies (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Jan 2023.