An observational study in Hereditary Hemorrhagic Telangiectasia, HHT and Rendu Osler Weber Disease, sponsored by Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal. Completed at 1 site in Spain. Open to participants aged 18 Years to 75 Years. Per ClinicalTrials.gov, last updated 2025-03-17.
Sponsored by Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal · Observational
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The present project aims to study the inflammatory and endothelial responses involved in the differences in clinical events related to both genotypes (ENG vs. ACVRL1) in HHT. Accordingly, a cross-sectional study is proposed to evaluate the differences in circulating inflammatory and endothelial biomarkers, including interleukines, adhesion molecules, chemokines and immune regulatory molecules between both HHT groups.
Background and rationale: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease characterized by a multisystemic vascular dysplasia with autosomal dominant inheritance, mainly caused by mutations in ENG and ACVRL1 genes. Even though those mutations have been related to different clinical manifestations, the molecular mechanisms involved in each genetic variant have not been clarified. Methods: A cohort study will be carried out to compare the incidence of clinical events after a 12-months follow-up. The ability of these biomarkers to predict the clinical events will be assessed in a multivariate analysis.
106 studies on the registry are indexed under Telangiectasia, Hereditary Hemorrhagic; 24 are open to participants now.
This study's enrollment of 85 is below the median of 207 across 41 observational studies indexed under Telangiectasia, Hereditary Hemorrhagic.
Browse Telangiectasia, Hereditary Hemorrhagic studies →Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal is the lead sponsor of 83 studies on the registry; 22 are open to participants now.
Counted across the registry records on this site, refreshed daily.
A consecutive sample of patients with HHT will be selected from the subjects under follow-up in the Internal Medicine Department of the Hospital Universitario Ramón y Cajal.
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Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Autoimmune disease
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Mutations in the ENG (endoglin) gene
Other: Registry
Mutations in the ALK-1 (activin receptor-like kinase) gene
Other: Registry
Non-interventional registry
Hemorrhagic clinical events
Presence of significant bleeding of any location, recurrent and/or massive, or performance of therapeutic procedures to control them.
Time frame: 12-month follow-up period after inclusion
Other significant clinical events
Significant clinical events other than hemorrhagic episodes (e.g., infections, neoplasms or other severe diseases)
Time frame: 12-month follow-up period after inclusion
Changes in quality of life
Significant changes in quality of life as measured by the EuroQol 5-level EQ-5D version (EQ-5D-5L) and the EuroQol visual analogue scale (EQ VAS). EQ-5D-5L comprises five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension has 5 levels: no problems, slight problems, moderate problems, severe problems and extreme problems. The index ranges from 1 (best state of health) to 0 (death). The EQ VAS records the patient's self-rated health on a vertical visual analogue scale, where the endpoints are labelled 'The best health you can imagine' (100 points) and 'The worst health you can imagine' (0 points).
Time frame: 12-month follow-up period after inclusion
Plan to share: Undecided
Ran from Apr 2021 to primary completion in Dec 2023, 32 months.
Of 23 observational studies under Telangiectasia, Hereditary Hemorrhagic, half reached primary completion within 56 months of starting (the median), counting those still running; a quarter within 36 and three quarters within 184. This study's 32 months is below that.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Mar 2025. You cannot join it, but the record below documents what was studied.
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Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal