Quality of Life in Pediatric Participants With HHT

March 11, 2026 updated by: Ashley Nelson

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

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 Overview

Status

Not yet recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

70

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Katie Wusik, Master of Genetic Counseling
  • Phone Number: (513) 636-3200
  • Email: katie.wusik@cchmc.org

Study Contact Backup

Study Locations

  • United States
    • Ohio
      • Cincinnati, Ohio, United States, 45221
        • Cincinnati Children's Hospital Medical Center
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The study population will include pediatric and young adult patients aged 2-25 years with a confirmed diagnosis of Hereditary Hemorrhagic Telangiectasia receiving care at Cincinnati Children's Hospital Medical Center. Eligible participants will be identified through the electronic medical record based on diagnostic criteria and clinic records. Both caregiver proxy respondents (for children aged 2-17 years) and patient self-report respondents (for individuals aged 8-25 years) will be included. Participants will complete validated quality-of-life questionnaires assessing health-related and disease-specific quality of life over the prior 30 days. A paired retrospective chart review will be conducted to obtain clinical variables including disease severity, procedures, imaging studies, and other healthcare utilization measures associated with HHT.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
30 days
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.
past 30 days

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Ashley Nelson

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

July 1, 2026

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

August 1, 2027

Study Registration Dates

First Submitted

March 11, 2026

First Submitted That Met QC Criteria

March 11, 2026

First Posted (Actual)

March 16, 2026

Study Record Updates

Last Update Posted (Actual)

March 16, 2026

Last Update Submitted That Met QC Criteria

March 11, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CCHMC_HHT_QOL_2026

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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