Hereditary Hemorrhagic TelangiectasiaNCT06261333
Quality of Life in Patients With Hemorrhagic Telangiectasia
An observational study of Hereditary Hemorrhagic Telangiectasia, run by University Hospital, Essen at 1 site in Germany.
Trial summary
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler's disease, is a genetic disorder that leads to abnormal blood vessel formations. It primarily affects blood vessels in the skin, mucous membranes, and internal organs. The disease can be clinically diagnosed using the Curaçao criteria (1. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hereditary Hemorrhagic Telangiectasia
- What is being tested?
- Questionnaires
- How many people
- 250 participants
- Where
- 1 siteGermany
- Study dates
- 22 Jan 2024to 31 Dec 2025
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients suffering from HHT
Who may be able to join
- knowledge of german language
- Age above 17 years
- capable of giving consent
- Diagnosis of HHT (Curaçao criteria or genetic testing)
Who cannot join
- -Individuals not meeting the inclusion criteria.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Germany1 site
Departement of Otorhinolaryngology - Head and Neck Surgery University Hospital Essen
Essen, North Rhine-Westphalia, 45147
About this study
Official title: Influence of Telangiectasia and Anemia on the Well-being and Quality of Life of Patients With Hereditary Hemorrhagic Telangiectasia (HHT).
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler's disease, is a genetic disorder that leads to abnormal blood vessel formations. It primarily affects blood vessels in the skin, mucous membranes, and internal organs. The disease can be clinically diagnosed using the Curaçao criteria (1. Positive family history of HHT, 2. Recurrent and spontaneous epistaxis, 3. Multiple typical telangiectasias, 4. Organ involvement with vascular malformations, especially in the liver, lungs, gastrointestinal tract, or brain); if a patient meets at least 3 criteria, the diagnosis of HHT can be established.
Patients with HHT often have telangiectasias on their faces. Additionally, many patients suffer from anemia, which can result in a pale and potentially tired appearance. Patients with HHT may be less satisfied with their appearance due to the aesthetic changes in their faces and may also experience psychosocial impairment. To further investigate this, various validated questionnaires (FACE-Q©, PROMIS-Profile-29+2, EQ5D), as well as routinely collected clinical data (e.g., laboratory values including hemoglobin levels, Curaçao criteria, smoking status, alcohol consumption, and the Epistaxis Severity Score (ESS)) will be used.
- Conditions
- Hereditary Hemorrhagic Telangiectasia
- Being tested
- Questionnaires
- Medical subject headings
- Telangiectasia, Hereditary Hemorrhagic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
QuestionnairesOther
No Intervention
What is being measured
The primary outcome is the main question the study is designed to answer.
Quality of Life and Patient Satisfaction measured using the FACE-Questionnaire
Using patient reported outcome measurements: Face-Questionnaire and Patient-Reported Outcomes Measurement Information System (PROMIS) in order to assess the quality of life in patients with HHT
Measured: one year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Feb 2024
- Study start22 Jan 2024
- Primary completion31 Dec 2025 (estimated)
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Hemorrhagic TelangiectasiaStudies 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
- Prospective
- Enrolment
- 250 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Essen
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Freya Droege, University Hospital, Essen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06261333
- Sponsor's protocol ID
- 23-11519-BO
- Status last verified
- Mar 2025
- First submitted
- 12 Jan 2024
- Last updated
- 30 Mar 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The datasets used and/or analysed during the current study are available on reasonable request
Study at a glance
From the registry record, last updated by the sponsor on 30 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Influence of Telangiectasia and Anemia on the Well-being and Quality of Life of Patients With Hereditary Hemorrhagic Telangiectasia (HHT).
- ClinicalTrials.gov ID
- NCT06261333
- Acronym / sponsor ID
- 23-11519-BO
- Conditions
- Hereditary Hemorrhagic Telangiectasia
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 250 participants (estimated)
- Lead sponsor
- University Hospital, EssenUniversity, hospital or other
- Study start
- 22 Jan 2024 (actual)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 15 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler's disease, is a genetic disorder that leads to abnormal blood vessel formations. It primarily affects blood vessels in the skin, mucous membranes, and internal organs. The disease can be clinically diagnosed using the Curaçao criteria (1. Positive family history of HHT, 2. Recurrent and spontaneous epistaxis, 3. Multiple typical telangiectasias, 4. Organ involvement with vascular malformations, especially in the liver, lungs, gastrointestinal tract, or brain); if a patient meets at least 3 criteria, the diagnosis of HHT can be established.
Patients with HHT often have telangiectasias on their faces. Additionally, many patients suffer from anemia, which can result in a pale and potentially tired appearance. Patients with HHT may be less satisfied with their appearance due to the aesthetic changes in their faces and may also experience psychosocial impairment. To further investigate this, various validated questionnaires (FACE-Q©, PROMIS-Profile-29+2, EQ5D), as well as routinely collected clinical data (e.g., laboratory values including hemoglobin levels, Curaçao criteria, smoking status, alcohol consumption, and the Epistaxis Severity Score (ESS)) will be used.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients suffering from HHT
Key inclusion criteria (4 listed)
- knowledge of german language
- Age above 17 years
- capable of giving consent
- Diagnosis of HHT (Curaçao criteria or genetic testing)
Key exclusion criteria (1 listed)
- -Individuals not meeting the inclusion criteria.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| QuestionnairesNo Intervention | Other | – |
Primary outcome
Quality of Life and Patient Satisfaction measured using the FACE-Questionnaire
Time frame: one year
Using patient reported outcome measurements: Face-Questionnaire and Patient-Reported Outcomes Measurement Information System (PROMIS) in order to assess the quality of life in patients with HHT
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Mar 2025.
- Individual participant dataSharing planned: Yes. The datasets used and/or analysed during the current study are available on reasonable request
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Harmony-HHT: ATV-1601 in Participants With Hereditary Hemorrhagic Telangiectasia (HHT)
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A Study to Evaluate ALN-6400 in Healthy Volunteers and Patients With Hereditary Hemorrhagic Telangiectasia (HHT)
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Hemorrhagic Telangiectasia, run by University Hospital, Essen at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 30 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Quality of Life and Patient Satisfaction measured using the FACE-Questionnaire (time frame: one year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Mar 2025.