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CompletedNCT02464644Updated Sep 28, 2023

Frequency of Common Medical Conditions in People With and Without HHT

An interventional study of Questionnaire in Hereditary Hemorrhagic Telangiectasia (HHT), sponsored by Imperial College London. Completed at 1 site in United Kingdom. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-09-28.

Sponsored by Imperial College London · Not applicable, Interventional, and Prevention

Phase
Not applicable
Study type
Interventional
Enrollment
2,174
Allocation
Non-randomized
Ages
18 Years and older
Sex
All
01

Study summary

Hereditary Hemorrhagic Telangiectasia (HHT) affects 1 in 5,000 people. The purpose of this study is to provide data regarding the frequency of common health conditions and the tolerability of therapies in HHT by using a questionnaire.

This will be filled in by both people with HHT, and controls who will be members of the general population without HHT.

The questionnaire has been designed primarily for web based entry, but can also be circulated in paper format on request

Read the detailed description

Hereditary Hemorrhagic Telangiectasia (HHT) affects 1 in 5,000 people, usually causing nosebleeds, skin blood spots, and/or anemia as a result of bleeding from the nose or gut. The majority of people with HHT also have abnormal blood vessels (arteriovenous malformations) in internal organs such as the lungs, liver and brain. Management of this multisystem disorder is highly challenging.

The Lead Applicant has spent 20 years working on this rare disease, and identified multiple areas where more evidence is required to assist clinicians and patients with this lifelong condition. A particular issue is what happens when people with HHT have other common medical conditions such as asthma, cancer, diabetes, or heart disease. Do they have the same pattern of problems as the general population? Can they use the same drugs? Are further safeguards needed? For these important questions, current advice can only be based on theoretical considerations and anecdotal data.

The ultimate goal of this study is to use information derived from a questionnaire to provide evidence to assist clinicians treating people with HHT.

Data will be entered from April 2012. Data will be analysed on average 6-8 months after entry.

02

Conditions studied

  • Hereditary Hemorrhagic Telangiectasia (HHT)

Keywords

  • On-line Questionnaire
  • No travel
  • Health
  • Medicines
  • Drugs
  • Lifestyle
  • Family
  • Help for others
  • Rare condition
  • General population
03

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
Yes

Inclusion criteria

  • Aged 18 or over.
  • Capacity to fill in a questionnaire.

Exclusion criteria

Exclusion Criteria:

  • Age under 18
  • Unable to fill in a questionnaire
04

Study design

Phase
Not applicable
Primary purpose
Prevention
Allocation
Non-randomized
Intervention model
Single group
Masking
None (open label)
Enrollment
2,174 participants (actual)

Study arms

  • Experimental
    People with HHT

    People with HHT will identify themselves within the questionnaire, first by statement of what they think is their diagnosis, and second by provision of the HHT diagnostic criteria within specific questions. They will be directed to appropriate questions, according to answers to the previous questions.

    Other: Questionnaire

  • Other
    Controls without HHT

    People without HHT will identify themselves within the questionnaire, first by statement of what they think is their diagnosis, and second by provision of the HHT diagnostic criteria within specific questions. They will be directed to appropriate questions, according to answers to the previous questions.

    Other: Questionnaire

Interventions

  • OtherQuestionnaire

    To capture large sufficiently large numbers of individuals for appropriate statistical power (see below), a web based questionnaire design was considered the most appropriate tool. SurveyMonkey was identified as the most suitable means to generate the questionnaire, facilitate confidential answers by the target populations, and for analysis of questionnaire data. The designed survey can also be presented in paper format, and used in our clinical service.

    Also known as: Survey, Confidential, SurveyMonkey SSL encryption feature, Web-link collector does not collect IP addresses

05

What researchers measure

Primary outcomes

  1. Prevalence of nosebleeds.

    The data outcome will be captured at the time of reporting by study participants, indicating the % of respondents affected by nosebleeds at that time. Subsequent calculations will standardise for age and other participant variables.

    Time frame: Day 1

Secondary outcomes

  1. Efficacy of nosebleed treatments

    The data outcome will be captured at the time of reporting by study participants, indicating the % of respondents reporting beneficial, null or detrimental effects from nosebleed treatments. Subsequent calculations will standardise for age and other participant variables.

    Time frame: Day 1

06

Study locations

1 site
  • NHLI Cardiovascular Sciences, Imperial College London
    London, SL9 0QR, United Kingdom
07

References and documents

Publications

  • Silva BM, Hosman AE, Devlin HL, Shovlin CL. Lifestyle and dietary influences on nosebleed severity in hereditary hemorrhagic telangiectasia. Laryngoscope. 2013 May;123(5):1092-9. doi: 10.1002/lary.23893. Epub 2013 Feb 12. PubMed 23404156 ↗
  • Devlin HL, Hosman AE, Shovlin CL. Antiplatelet and anticoagulant agents in hereditary hemorrhagic telangiectasia. N Engl J Med. 2013 Feb 28;368(9):876-8. doi: 10.1056/NEJMc1213554. No abstract available. PubMed 23445111 ↗
  • Finnamore H, Le Couteur J, Hickson M, Busbridge M, Whelan K, Shovlin CL. Hemorrhage-adjusted iron requirements, hematinics and hepcidin define hereditary hemorrhagic telangiectasia as a model of hemorrhagic iron deficiency. PLoS One. 2013 Oct 16;8(10):e76516. doi: 10.1371/journal.pone.0076516. eCollection 2013. PubMed 24146883 ↗
  • Hosman AE, Devlin HL, Silva BM, Shovlin CL. Specific cancer rates may differ in patients with hereditary haemorrhagic telangiectasia compared to controls. Orphanet J Rare Dis. 2013 Dec 20;8:195. doi: 10.1186/1750-1172-8-195. PubMed 24354965 ↗
  • Elphick A, Shovlin CL. Relationships between epistaxis, migraines, and triggers in hereditary hemorrhagic telangiectasia. Laryngoscope. 2014 Jul;124(7):1521-8. doi: 10.1002/lary.24526. Epub 2014 Jan 23. PubMed 24458873 ↗
  • Shovlin CL, Awan I, Cahilog Z, Abdulla FN, Guttmacher AE. Reported cardiac phenotypes in hereditary hemorrhagic telangiectasia emphasize burdens from arrhythmias, anemia and its treatments, but suggest reduced rates of myocardial infarction. Int J Cardiol. 2016 Jul 15;215:179-85. doi: 10.1016/j.ijcard.2016.04.006. Epub 2016 Apr 7. PubMed 27116331 ↗
  • Patel T, Elphick A, Jackson JE, Shovlin CL. Injections of Intravenous Contrast for Computerized Tomography Scans Precipitate Migraines in Hereditary Hemorrhagic Telangiectasia Subjects at Risk of Paradoxical Emboli: Implications for Right-to-Left Shunt Risks. Headache. 2016 Nov;56(10):1659-1663. doi: 10.1111/head.12963. Epub 2016 Oct 11. PubMed 27727478 ↗
  • Shovlin CL, Patel T, Jackson JE. Embolisation of PAVMs reported to improve nosebleeds by a subgroup of patients with hereditary haemorrhagic telangiectasia. ERJ Open Res. 2016 Apr 29;2(2):00035-2016. doi: 10.1183/23120541.00035-2016. eCollection 2016 Apr. PubMed 27730189 ↗
  • Shovlin CL, Gilson C, Busbridge M, Patel D, Shi C, Dina R, Abdulla FN, Awan I. Can Iron Treatments Aggravate Epistaxis in Some Patients With Hereditary Hemorrhagic Telangiectasia? Laryngoscope. 2016 Nov;126(11):2468-2474. doi: 10.1002/lary.25959. Epub 2016 Apr 23. PubMed 27107394 ↗
  • Hosman AE, Shovlin CL. Cancer and hereditary haemorrhagic telangiectasia. J Cancer Res Clin Oncol. 2017 Feb;143(2):369-370. doi: 10.1007/s00432-016-2298-x. Epub 2016 Nov 11. PubMed 27837281 ↗

Individual participant data

Plan to share: No

08

Registry details

Key details

Study ID
NCT02464644
Lead sponsor
Imperial College London
Responsible party
Sponsor
First posted
Jun 8, 2015
Start date
Apr 2012
Primary completion
May 2015
Completion
May 2015
Last update
Sep 28, 2023

Study contacts

Claire L Shovlin, PhD MB BChir FRCP
principal investigator · Imperial College London

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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