Vascular Ehlers-Danlos syndrome - the COL3A1 gene A comprehensive natural history study

Completed

Conditions: vascular EDS
Vascular Ehlers-Danlos syndrome
vEDS
VEDS
previously called EDS type IV or arterial-ecchymotic EDS
10007510
10028396

Registration Number: NL-OMON49872

Lead Sponsor: Academisch Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 159

Inclusion Criteria

- vEDS patients with a known pathogenic or VOUS class IV variant in the COL3A1
gene.
- relatives of these patients who have been tested positive for the familial
variant.

Exclusion Criteria

- vEDS patients without a known pathogenic or VOUS class IV variant in the
COL3A1 gene.
- relatives of these patients who have not been tested to carry the familial
variant.

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Specify clinical phenotype: a database is made containing specific features<br /><br>which will be assessed per patient.<br /><br>Genotype-/fenotype correlations: correlate type of mutation to the fenotype<br /><br>using the same database.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1. reasons for referral for genetic analysis; 2. all mutations detected in the<br /><br>diagnostics lab; 3. the 2017 revised diagnostic criteria; are they sensitive<br /><br>enough to detect the patients in our cohort?; 4. overall time to first<br /><br>vascular/rupture event; 5. overall survival; 6. milder phenotype in mutations<br /><br>resulting in haploinsufficiency; 7. FTAAD phenotype; 8. non-penetration; 9.<br /><br>uptake of pre-symptomatic testing in relatives; 10. prenatal diagnostics<br /><br>(PND)/pre-implantation genetic testing (PGT) performed; 11. pregnancy<br /><br>complications in mutation carriers, evaluate whether inclusion of untested<br /><br>females at 50% risk is feasible in risk calculation. </p><br>