Quality of Life in Pediatric Participants With HHT

NCT07474428 | Not Yet Recruiting

• 1 other identifier: CCHMC_HHT_QOL_2026
• Study Type: observational
• Target: 70
• Locations: 1 country
• Sites: 1

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.

Conditions

Hereditary Haemorrhagic Telangiectasia (HHT)

Keywords

HHT; QOL; Pedatric

Outcome Measures

Primary Outcomes (2)

• 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.

  30 days

• HHT-QOL

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

  past 30 days

Secondary Outcomes (3)

• Epistaxis Severity Score

  past 30 days

• HHT Severity Score

  lifetime

• Clinical Utilization

  lifetime

Eligibility Criteria

• Age: 2 Years - 25 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Ashley Nelson: lead

Study Sites (1)

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45221, United States

Location

Related Publications (5)

• Gong AJ, Bolsegui ML, Lee EE, Mathai SC, Weiss CR. Assessing the Psychometric Validity of the Epistaxis Severity Score: Internal Consistency and Test-Retest Reliability. Am J Rhinol Allergy. 2024 Jan;38(1):38-46. doi: 10.1177/19458924231207137. Epub 2023 Oct 11.

  PMID: 37822162 BACKGROUND

• Blivet S, Cobarzan D, Beauchet A, El Hajjam M, Lacombe P, Chinet T. Impact of pulmonary arteriovenous malformations on respiratory-related quality of life in patients with hereditary haemorrhagic telangiectasia. PLoS One. 2014 Mar 6;9(3):e90937. doi: 10.1371/journal.pone.0090937. eCollection 2014.

  PMID: 24603803 BACKGROUND

• Beslow LA, Breimann J, Licht DJ, Waldman J, Fallacaro S, Pyeritz RE, Goldmuntz E, Vossough A. Cerebrovascular Malformations in a Pediatric Hereditary Hemorrhagic Telangiectasia Cohort. Pediatr Neurol. 2020 Sep;110:49-54. doi: 10.1016/j.pediatrneurol.2020.05.008. Epub 2020 May 25.

  PMID: 32718529 BACKGROUND

• Beckman JD, Li Q, Hester ST, Leitner O, Smith KL, Kasthuri RS. Integration of clinical parameters, genotype and epistaxis severity score to guide treatment for hereditary hemorrhagic telangiectasia associated bleeding. Orphanet J Rare Dis. 2020 Jul 13;15(1):185. doi: 10.1186/s13023-020-01453-1.

  PMID: 32660636 BACKGROUND

• Al-Samkari H, Thomas S, Marsh DJ, Kasthuri RS, Iyer V, Pishko A, Decker J, Weiss CR, Whitehead K, Conrad M, Zumberg M, Zhou JY, Parambil J, Carper B, Clancy MS, McCrae KR. Characteristics Associated with Clinical Response to Pomalidomide in Hereditary Hemorrhagic Telangiectasia. Blood Adv. 2026 Feb 20:bloodadvances.2025019484. doi: 10.1182/bloodadvances.2025019484. Online ahead of print.

  PMID: 41719457 BACKGROUND

MeSH Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Telangiectasis; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Vascular Malformations; Cardiovascular Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Katie Wusik, Master of Genetic Counseling

CONTACT

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

Ashley Nelson

CONTACT

ashley.nelson@cchmc.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Sponsor-Investigator

Study Record Dates

• First Submitted: March 11, 2026
• First Posted: March 16, 2026
• Study Start: July 1, 2026
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): August 1, 2027
• Last Updated: March 16, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)