Quality of Life in Pediatric Participants With HHT

Health-Related Quality of Life and Clinical Utilization in Pediatric and Young Adult Patients With Hereditary Hemorrhagic Telangiectasia

Status

Not yet recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07474428

Enrollment

Registered

2026-03-16

Start date

2026-07-01

Completion date

2027-08-01

Last updated

2026-03-16

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

Conditions

Hereditary Haemorrhagic Telangiectasia (HHT)

Keywords

HHT, QOL, Pedatric

Brief summary

This observational study evaluates health-related quality of life (HR-QoL) in pediatric and young adult patients aged 2-25 years with Hereditary Hemorrhagic Telangiectasia (HHT). Eligible participants are patients receiving care at Cincinnati Children's Hospital Medical Center and / or their caregivers. Participants will complete validated quality-of-life questionnaires assessing physical, emotional, social, and disease-specific functioning over the past 30 days. A paired retrospective chart review will assess disease severity and clinical utilization, including procedures and imaging studies. The primary objective is to describe mean QoL scores for this population. Secondary objectives include evaluating associations between QoL scores, disease severity, and clinical utilization.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

2 Years to 25 Years

Healthy volunteers

Inclusion criteria

* • Patient aged 2-25 years with a confirmed (either genetic or clinical) diagnosis of definite HHT * Parent or legal guardian willing and able to complete the caregiver survey for patients aged 2-17. * For patients \>18, willing and able to complete the patient survey. * Receipt of care through CCHMC (at least one visit with genetic counselor or director of HHT Center) * Ability to complete survey in English * For self-report: patient age greater than or equal to 8 years old that assent to survey.

Exclusion criteria

* Patients that are older than 25 years old. * Patients that are younger than 2 years old. * Individuals without definite HHT diagnosis.

Design outcomes

Primary

Measure	Time frame	Description
PedsQL Total Score	30 days	Mean total health-related quality of life score measured using the Pediatric Quality of Life Inventory (PedsQL). Scores range from 0-100, with lower scores indicating worse quality of life.
HHT-QOL	past 30 days	Mean score ranging from 0-16 assessing HHT-related symptom burden and functional impact. Higher scores indicate worse impairment.

Secondary

Measure	Time frame	Description
Epistaxis Severity Score	past 30 days	Continuous score (0-10) measuring nosebleed severity. Higher scores indicate more severe epistaxis.
HHT Severity Score	lifetime	Continuous score ranging 0-7 reflecting lifetime disease severity based on organ AVMs and bleeding history.
Clinical Utilization	lifetime	Number of procedures (embolization, cauterization) and imaging studies (MRI, CT, bubble echocardiography).

Countries

United States

Contacts

CONTACTKatie Wusik, Master of Genetic Counseling

katie.wusik@cchmc.org(513) 636-3200

CONTACTAshley Nelson

ashley.nelson@cchmc.org

Outcome results