Hereditary Haemorrhagic Telangiectasia (HHT)NCT07474428
Quality of Life in Pediatric Participants With HHT
An observational study of Hereditary Haemorrhagic Telangiectasia (HHT), run by Ashley Nelson at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 25 years
- Conditions the study is for
- Hereditary Haemorrhagic Telangiectasia (HHT)
- How many people
- 70 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Sep 2026to Aug 2027
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 25 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- • 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.
Who cannot join
- Patients that are older than 25 years old.
- Patients that are younger than 2 years old.
- Individuals without definite HHT diagnosis.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Ashley Nelson contact
United States1 site, 1 recruiting
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45221
Katie Wusik, Master of Genetic Counseling, 513-636-3200, katie.wusik@cchmc.org
About this study
Official title: 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.
- Keywords
- HHT, QOL, Pedatric
- Medical subject headings
- Telangiectasia, Hereditary Hemorrhagic
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 30 days
HHT-QOL
Mean score ranging from 0-16 assessing HHT-related symptom burden and functional impact. Higher scores indicate worse impairment.
Measured: past 30 days
Secondary outcomes (3)
Epistaxis Severity Score
Continuous score (0-10) measuring nosebleed severity. Higher scores indicate more severe epistaxis.
Measured: past 30 days
HHT Severity Score
Continuous score ranging 0-7 reflecting lifetime disease severity based on organ AVMs and bleeding history.
Measured: lifetime
Clinical Utilization
Number of procedures (embolization, cauterization) and imaging studies (MRI, CT, bubble echocardiography).
Measured: lifetime
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Mar 2026
- Study start1 Sep 2026
- Primary completionDec 2026 (estimated)
- Study completionAug 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Hereditary Haemorrhagic Telangiectasia (HHT)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 70 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ashley Nelson
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Ashley Nelson, Children's Hospital Medical Center, Cincinnati
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07474428
- Sponsor's protocol ID
- CCHMC_HHT_QOL_2026
- Status last verified
- Oct 2026
- First submitted
- 11 Mar 2026
- Last updated
- 22 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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.
PubMed 37822162Blivet 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.
PubMed 24603803Beslow 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.
PubMed 32718529Beckman 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.
PubMed 32660636Al-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.
PubMed 41719457