Nationwide survey on visceral AVMs associated with Osler's disease (Hereditary Hemorrhagic Telangiectasia) (a multi-center, retrospective study)

Nationwide survey on visceral AVMs associated with Osler's disease (Hereditary Hemorrhagic Telangiectasia) (a multi-center, retrospective study) - Nationwide survey on visceral AVMs associated with Osler's disease (HHT)

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000053576

Enrollment

500

Registered

2024-02-14

Start date

2024-02-14

Completion date

Unknown

Last updated

2026-06-29

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

Conditions

Osler&#39

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patients who visited HHT clinics participating in this study between January 1, 2022 and December 31, 2022, and met either of the following two conditions (a) Patients met 3 or 4 of the Curacao criteria for clinical diagnosis of HHT. (b) The HHT gene test showed pathogenic mutations in the ENG gene, ACVRL1 gene, or SMAD4 gene.

Exclusion criteria

Exclusion criteria: 1 Patients with insufficient medical information 2 Patients deemed inappropriate by the principal investigator or subinvestigator to conduct this study

Design outcomes

Primary

Measure	Time frame
The prevalence of visceral AVMs, symptomatic prevalence, and the proportion of patients treated for them will be analyzed to assess the frequency of HHT-associated visceral AVMs in Japan. In addition, for those for which genetic test results are available, we will analyze the prevalence of HHT1 (ENG gene mutation) and HHT2 (ACVRL1 gene mutation) in terms of the prevalence of visceral AVMs, symptomatic prevalence, and the proportion of patients treated for them. The differences in visceral AVMs by HHT subtype will also be evaluated.	—

Measure

Time frame

The prevalence of visceral AVMs, symptomatic prevalence, and the proportion of patients treated for them will be analyzed to assess the frequency of HHT-associated visceral AVMs in Japan. In addition, for those for which genetic test results are available, we will analyze the prevalence of HHT1 (ENG gene mutation) and HHT2 (ACVRL1 gene mutation) in terms of the prevalence of visceral AVMs, symptomatic prevalence, and the proportion of patients treated for them. The differences in visceral AVMs by HHT subtype will also be evaluated.

—

Countries

Japan

Contacts

Public ContactTakeo Nishida

Hyogo Prefectural Nishinomiya Hospital Department of Neurosurgery

takeonsd@gmail.com+81-798-34-5151

Outcome results