Quality of Life in Pediatric Participants With HHT

N/ANot Yet RecruitingNCT07474428

Ashley Nelson70 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Hereditary Haemorrhagic Telangiectasia (HHT)

Eligibility

Sex: ALLMin age: 2 YearsMax age: 25 Years

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

PedsQL Total Score

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.

Time frame: 30 days

HHT-QOL

Mean score ranging from 0-16 assessing HHT-related symptom burden and functional impact. Higher scores indicate worse impairment.

Time frame: past 30 days

Secondary Outcomes

Epistaxis Severity Score

Continuous score (0-10) measuring nosebleed severity. Higher scores indicate more severe epistaxis.

Time frame: past 30 days

HHT Severity Score

Continuous score ranging 0-7 reflecting lifetime disease severity based on organ AVMs and bleeding history.

Time frame: lifetime

Clinical Utilization

Number of procedures (embolization, cauterization) and imaging studies (MRI, CT, bubble echocardiography).