Sneddon SyndromeNCT06850519
Genetic Risk Factors of the Sneddon Syndrome
An observational study of Sneddon Syndrome, run by Karl Landsteiner University of Health Sciences at 1 site in Austria.
Trial summary
Sneddon syndrome (SS) is a rare disorder with an incidence of about 4/million/year that affects mainly young and predominantly female adults. It is characterized by recurrent strokes and livedo reticularis, a purple reticular patterning of the skin. Read more about this study
- Who is it for?
- Ages 18 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Sneddon Syndrome
- What is being tested?
- Exome Sequencing and Sanger Sequencing
- How many people
- 40 participants
- Where
- 1 siteAustria
- Study dates
- 12 May 2021to 8 Nov 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
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients with Sneddon syndrome based on standard diagnosis criteria of Sneddon syndrome
Who may be able to join
- Subjects must be at least 18years old.
- Affected subjects must have been clinically diagnosed with Sneddon Syndrome. When analyzing families with Sneddon syndrome, healthy family members and participants with only symptoms of the skin will be included if consent is obtained.Frau Elli Greisenegger
- Unaffected subjects or subjects with symptoms restricted to the skin must have at least one family member with the clinical diagnosis Sneddon syndrome participating in the study.
- Subjects must be able to communicate well with the investigator, to understand the requirements of the study, as well as to understand and sign thewritten informed consent(= informed consent approved by thelocalethics committee).
Who cannot join
- Subjects who are unable to communicate well with the investigator, to understand the requirements of the study, as well as to understand and sign the written informed consent, are not eligible for inclusion in this study.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: A Study and Biobank to Identify Genetic Risk Factors in the Pathogenesis of the Sneddon Syndrome
Sneddon syndrome (SS) is a rare disorder with an incidence of about 4/million/year that affects mainly young and predominantly female adults. It is characterized by recurrent strokes and livedo reticularis, a purple reticular patterning of the skin. A genetic predisposition to this disease, for which there is still no single therapy, is being discussed. Our group recently identified a homozygous nonsense mutation within epidermal growth factor repeat (EGFr) 19 of NOTCH3 in two siblings of a consanguineous family with Sneddon syndrome and pediatric stroke. In an attempt to find other possible contributing genes in Sneddon syndrome patients with adult-onset stroke, we also searched for loss-of-function variants in genes downstream of NOTCH3. In doing so, we found 2 patients carrying heterozygous loss-of-function variants in the PALLD and ANGPTL4 genes. Our results suggest that a bi-allelic loss-of-function mutation in NOTCH3 is a cause of familial Sneddon syndrome with pediatric stroke and that impaired NOTCH3 signaling is an underlying disease mechanism in general. In addition, we have identified several other promising variants that are either located in genes associated with NOTCH3 signaling or play a role in vascular function and stroke.
Based on these results, we now want to investigate whether these aforementioned variants are detectable in a larger number of patients and additionally analyze whether other genetic variants also play a role in disease pathogenesis. The goal of our project is to identify risk variants for Sneddon syndrome by whole exome sequencing and subsequent conventional sequencing....
The detection of a risk gene would be a helpful tool for the diagnosis of Sneddon syndrome and a possible basis for new therapeutic approaches.
- Conditions
- Sneddon Syndrome
- Being tested
- Exome Sequencing and Sanger Sequencing
- Medical subject headings
- Sneddon Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Exome Sequencing and Sanger SequencingGenetic
Exome Sequencing and Sanger Sequencing
| Study group | Role | What they receive |
|---|---|---|
| Patients with Sneddon | Whole exome sequencing Receives: Genetic: Exome Sequencing and Sanger Sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
potential genetic risk factor for Sneddon Syndrome present
occurence of genetic variants in genes associated with Sneddon Syndrome
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Feb 2025
- Study start12 May 2021
- Primary completion8 Nov 2024
- Study completion8 Nov 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sneddon SyndromeStudies 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
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- Karl Landsteiner University of Health Sciences
- Sponsor type
- University, hospital or other
- Collaborators
- Medical University of Vienna, Unidade Local de Saúde de Coimbra, EPE, Instituto de Investigación Marqués de Valdecilla, Technical University of Munich, Alfried Krupp Krankenhaus, University Hospital Tuebingen
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06850519
- Sponsor's protocol ID
- 1016/2021
- Status last verified
- Sep 2021
- First submitted
- 8 Sep 2021
- Last updated
- 27 Feb 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study and Biobank to Identify Genetic Risk Factors in the Pathogenesis of the Sneddon Syndrome
- ClinicalTrials.gov ID
- NCT06850519
- Acronym / sponsor ID
- 1016/2021
- Conditions
- Sneddon Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- Karl Landsteiner University of Health SciencesUniversity, hospital or other
- Collaborators
- Medical University of Vienna, Unidade Local de Saúde de Coimbra, EPE, Instituto de Investigación Marqués de Valdecilla, Technical University of Munich, Alfried Krupp Krankenhaus, University Hospital Tuebingen
- Study start
- 12 May 2021 (actual)
- Primary completion
- 8 Nov 2024 (actual)
- Study completion
- 8 Nov 2024 (actual)
- First posted
- 27 Feb 2025 (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.
Sneddon syndrome (SS) is a rare disorder with an incidence of about 4/million/year that affects mainly young and predominantly female adults. It is characterized by recurrent strokes and livedo reticularis, a purple reticular patterning of the skin. A genetic predisposition to this disease, for which there is still no single therapy, is being discussed. Our group recently identified a homozygous nonsense mutation within epidermal growth factor repeat (EGFr) 19 of NOTCH3 in two siblings of a consanguineous family with Sneddon syndrome and pediatric stroke. In an attempt to find other possible contributing genes in Sneddon syndrome patients with adult-onset stroke, we also searched for loss-of-function variants in genes downstream of NOTCH3. In doing so, we found 2 patients carrying heterozygous loss-of-function variants in the PALLD and ANGPTL4 genes. Our results suggest that a bi-allelic loss-of-function mutation in NOTCH3 is a cause of familial Sneddon syndrome with pediatric stroke and that impaired NOTCH3 signaling is an underlying disease mechanism in general. In addition, we have identified several other promising variants that are either located in genes associated with NOTCH3 signaling or play a role in vascular function and stroke.
Based on these results, we now want to investigate whether these aforementioned variants are detectable in a larger number of patients and additionally analyze whether other genetic variants also play a role in disease pathogenesis. The goal of our project is to identify risk variants for Sneddon syndrome by whole exome sequencing and subsequent conventional sequencing....
The detection of a risk gene would be a helpful tool for the diagnosis of Sneddon syndrome and a possible basis for new therapeutic approaches.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Sneddon | – | Genetic: Exome Sequencing and Sanger SequencingWhole exome sequencing |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with Sneddon syndrome based on standard diagnosis criteria of Sneddon syndrome
Key inclusion criteria (4 listed)
- Subjects must be at least 18years old.
- Affected subjects must have been clinically diagnosed with Sneddon Syndrome. When analyzing families with Sneddon syndrome, healthy family members and participants with only symptoms of the skin will be included if consent is obtained.Frau Elli Greisenegger
- Unaffected subjects or subjects with symptoms restricted to the skin must have at least one family member with the clinical diagnosis Sneddon syndrome participating in the study.
- Subjects must be able to communicate well with the investigator, to understand the requirements of the study, as well as to understand and sign thewritten informed consent(= informed consent approved by thelocalethics committee).
Key exclusion criteria (1 listed)
- Subjects who are unable to communicate well with the investigator, to understand the requirements of the study, as well as to understand and sign the written informed consent, are not eligible for inclusion in this study.
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 |
|---|---|---|
| Exome Sequencing and Sanger SequencingExome Sequencing and Sanger Sequencing | Genetic | Patients with Sneddon |
Primary outcome
potential genetic risk factor for Sneddon Syndrome present
Time frame: 18 months
occurence of genetic variants in genes associated with Sneddon Syndrome
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Feb 2025.
- Individual participant dataSharing planned: No
Related trials for Sneddon Syndrome
RecruitingObservational study
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
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.
The record lists no contact. Use the official record to reach the sponsor.
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 Sneddon Syndrome, run by Karl Landsteiner University of Health Sciences 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 4 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: finished, as of the sponsor's last update on 27 Feb 2025. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
potential genetic risk factor for Sneddon Syndrome present (time frame: 18 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 27 Feb 2025.