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NCT Number: NCT07474428

Quality of Life in Pediatric Participants With HHT

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.

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Key information

Conditions

Hereditary Haemorrhagic Telangiectasia (HHT) Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Telangiectasia, Hereditary Hemorrhagic Telangiectasis Vascular Diseases Vascular Malformations

Age range

2 year–25 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45221, United States

Location contact

Katie Wusik, Master of Genetic Counseling

CONTACT

[email protected]

513-636-3200

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. PedsQL Total Score

    Time frame: 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.

  2. HHT-QOL

    Time frame: past 30 days

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

Secondary outcomes

  1. Epistaxis Severity Score

    Time frame: past 30 days

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

  2. HHT Severity Score

    Time frame: lifetime

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

  3. Clinical Utilization

    Time frame: lifetime

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

Study contacts

Contact information is provided by the study sponsor or research team.

Ashley Nelson

CONTACT

[email protected]

Katie Wusik, Master of Genetic Counseling

CONTACT

[email protected]

(513) 636-3200

Sponsors and collaborators

Lead sponsor

Ashley Nelson

Other

Registry information

Official study title

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

Important dates

Study start
2026
Primary completion
2026
Study completion
2027
First posted
Mar 16, 2026
Registry last updated
Mar 16, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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