Cerebrovascular manifestations of Hereditary Hemorrhagic Telangiectasia: a look beyond AVMs | A study of the prevalence of structural brain changes in HHT and an assessment of the MR cerebrovascular reactivity of HHT patients

Cerebrovascular manifestations of Hereditary Hemorrhagic Telangiectasia: a look beyond AVMs | A study of the prevalence of structural brain changes in HHT and an assessment of the MR cerebrovascular reactivity of HHT patients - Cerebrovascular manifestations of HHT: a look beyond AVMs

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON41632

Enrollment

Registered

2012-08-08

Start date

2013-02-08

Completion date

Unknown

Last updated

2024-08-19

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

Conditions

Hereditary Hemorrhagic Telangiectasia Rendu-Osler-Weber disease

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: • Endoglin gene mutation carriers (HHT type 1 patients) • Ability and willingness to provide written informed consent • Age: between 18 and 69 years • Presence of pulmonary AVM (15 subjects) • No pulmonary AVM present (15 subjects)

Exclusion criteria

Exclusion criteria: • Presence of other known cerebrovascular diseases not related to HHT: (overtly manifest hypertensive/atherosclerotic vascular disease, diabetes mellitus, previous head trauma, bleeding or ischemic stroke, CNS tumor, carotid artery stenosis) • Contra indications to MR Imaging • Contra indications to CO2 stimulation (Asthma/COPD, Change in hypertensive medication within the previous three months, Seizures within the previous year) • Severe physical restriction / inability to be scanned, such as weight above 120 kg.

Design outcomes

Primary

Measure	Time frame
The prevalence and distribution of (i): lacunar infarcts, (ii): microbleeds, (iii): white matter hyperintensities (WMH), (iv) widened perivascular spaces, (v) cerebral AVMs, and (vi): cerebrovascular reactivity.	—

Secondary

Measure	Time frame
No secundary parameters.	—

Countries

Netherlands

Outcome results