Better knowledge of the clinical phenotype/natural history and genotype of Traboulsi Syndrome.
ID
Source
Brief title
retrospective Dutch cohort study
Condition
- Aneurysms and artery dissections
Synonym
Research involving
Sponsors and support
Intervention
- Other intervention
N.a.
Outcome measures
Primary outcome
<p>Better knowledge of the clinical phenotype/natural history. A pseudo-anonymized digital database will be prepared containing specific features concerning Traboulsi Syndrome which will be assessed per patient.</p>
Secondary outcome
<p>- Demographics, including sex, age at disease presentation, age at genetic diagnosis (if applicable)</p><p>- Description of cardiac and/or vascular phenotype</p><p>- Description of the ocular phenotype</p><p>- Description of the respiratory phenotype</p><p>- Description of the skeletal phenotype</p><p>- Description of the facial appearance</p><p>- Information about the hematological status</p><p>- Description of other connective tissue disorder features</p><p>- Information about pregnancy and delivery (if applicable)</p>
Background summary
Traboulsi syndrome is caused by homozygous or compound heterozygous (likely) pathogenic variants in the ASPH-gene and characterized by facial dysmorphism, lens dislocation, anterior segment abnormalities and spontaneous filtering blebs. Recently, cardiovascular involvement in Traboulsi syndrome is described. Extension of the knowledge about the cardiovascular involvement is important for cardio specific management and follow-up advices for individuals with Traboulsi syndrome.
Study objective
Better knowledge of the clinical phenotype/natural history and genotype of Traboulsi Syndrome.
Study design
Retrospective multicenter cohort study to analyze the molecular and clinical data from available patient records.
Intervention
Not applicable, given the retrospective cohort study design.
Study burden and risks
Not applicable, since only current available patient data will be used.
I.M.B.H van de Laar
Dr. Molewaterplein 40
Rotterdam 3015 GD
Netherlands
0107036915
ervo@erasmusmc.nl
I.M.B.H van de Laar
Dr. Molewaterplein 40
Rotterdam 3015 GD
Netherlands
0107036915
ervo@erasmusmc.nl
Listed location countries
Age
Inclusion criteria
- Patients with Traboulsi syndrome and a proven (likely) pathogenic homozygous or compound heterozygous variants in the ASPH-gene.
- Informed consent about re-use of the patient data is given.
Exclusion criteria
Objection of the re-use of their data.
Design
Recruitment
Medical products/devices used
IPD sharing statement
Plan description
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| Research portal | NL-010036 |