Quality of Life in Pediatric Participants With HHT
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Hereditary Haemorrhagic Telangiectasia (HHT). Basic parameters: 2 years — 25 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Health-Related Quality of Life and Clinical Utilization in Pediatric and Young Adult Patients With Hereditary Hemorrhagic Telangiectasia
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.
Primary outcome measures
- PedsQL Total Score [Time frame: 30 days]
- HHT-QOL [Time frame: past 30 days]
Secondary outcome measures (3)
- Epistaxis Severity Score [Time frame: past 30 days]
- HHT Severity Score [Time frame: lifetime]
- Clinical Utilization [Time frame: lifetime]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Cincinnati Children's Hospital Medical Center — Cincinnati
Publications
- 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
- 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
- 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
- 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
- Al-Samkari H, Thomas SM, Marsh D, Kasthuri RS, Iyer VN, Pishko AM, Decker JE, Weiss CR, Whitehead KJ, Conrad MB, Zumberg MS, Zhou JY, Parambil J, Carper B, Clancy M, McCrae KR. Characteristics associated with clinical response to pomalidomide in hereditary hemorrhagic telangiectasia. Blood Adv. 2026 May 12;10(9):2967-2976. doi: 10.1182/bloodadvances.2025019484. PMID 41719457
Identifiers
NCT: NCT07474428 · CCHMC_HHT_QOL_2026