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

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON49872

Enrollment

159

Registered

2019-08-08

Start date

2019-09-25

Completion date

Unknown

Last updated

2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

vascular EDS Vascular Ehlers-Danlos syndrome vEDS VEDS

Interventions

None listed

Eligibility

Age

2 Years to 99 Years

Inclusion criteria

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

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.

Design outcomes

Primary

Measure	Time frame
Specify clinical phenotype: a database is made containing specific features which will be assessed per patient. Genotype-/fenotype correlations: correlate type of mutation to the fenotype using the same database.	—

Secondary

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

Measure

Time frame

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

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Countries

Netherlands

Outcome results