Genotype-phenotype Association in Hereditary Hemorrhagic Telangiectasia

NCT05550376 | Completed

• 1 other identifier: 301/20
• Study Type: observational
• Target: 85
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Hereditary Hemorrhagic Telangiectasia; HHT; Rendu Osler Weber Disease

Keywords

Hereditary Hemorrhagic Telangiectasia; HHT; Rendu Osler Weber Disease; Genotype-phenotype association; ENG; ALK-1

Outcome Measures

Primary Outcomes (1)

• Hemorrhagic clinical events

  Presence of significant bleeding of any location, recurrent and/or massive, or performance of therapeutic procedures to control them.

  12-month follow-up period after inclusion

Secondary Outcomes (2)

• Other significant clinical events

  12-month follow-up period after inclusion

• Changes in quality of life

  12-month follow-up period after inclusion

Study Arms (2)

HHT1

Mutations in the ENG (endoglin) gene

Other: Registry

HHT2

Mutations in the ALK-1 (activin receptor-like kinase) gene

Other: Registry

Interventions

Registry OTHER

Non-interventional registry

HHT1; HHT2

Eligibility Criteria

• Age: 18 Years - 75 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• Age between 18 and 75 years.
• Confirmed diagnosis of HHT, according to the Curaçao criteria or genetic diagnosis.
• Having signed the informed consent, after having received all the information concerning the study.

You may not qualify if:

• Serious intercurrent illnesses, such as acute infections, outbreaks of autoimmune or inflammatory pathology, active cancer, or other pathologies that, at the investigator's discretion, could interfere with the conduct of the study.
• Toxic habits, including severe smoking, alcohol or drug abuse, which in the opinion of the investigator could interfere with the conduct of the study.
• Pregnancy or puerperium.
• Any other condition that limits compliance with the visits or procedures established in the protocol.

Sponsors & Collaborators

• Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal: lead
• Sociedad Española De Medicina Interna: collaborator

Study Sites (1)

Hospital Universitario Ramón y Cajal

Madrid, Madrid, 28034, Spain

Location

Related Publications (3)

• Viteri-Noel A, Gonzalez-Garcia A, Patier JL, Fabregate M, Bara-Ledesma N, Lopez-Rodriguez M, Gomez Del Olmo V, Manzano L. Hereditary Hemorrhagic Telangiectasia: Genetics, Pathophysiology, Diagnosis, and Management. J Clin Med. 2022 Sep 5;11(17):5245. doi: 10.3390/jcm11175245.

  PMID: 36079173 BACKGROUND

• Sanchez-Martinez R, Iriarte A, Mora-Lujan JM, Patier JL, Lopez-Wolf D, Ojeda A, Torralba MA, Juyol MC, Gil R, Anon S, Salazar-Mendiguchia J, Riera-Mestre A; RiHHTa Investigators of the Rare Diseases Working Group from the Spanish Society of Internal Medicine. Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry. Orphanet J Rare Dis. 2020 Jun 5;15(1):138. doi: 10.1186/s13023-020-01422-8.

  PMID: 32503579 BACKGROUND

• Albinana V, Gimenez-Gallego G, Garcia-Mato A, Palacios P, Recio-Poveda L, Cuesta AM, Patier JL, Botella LM. Topically Applied Etamsylate: A New Orphan Drug for HHT-Derived Epistaxis (Antiangiogenesis through FGF Pathway Inhibition). TH Open. 2019 Jul 26;3(3):e230-e243. doi: 10.1055/s-0039-1693710. eCollection 2019 Jul.

  PMID: 31360828 BACKGROUND

Related Links

• The Multisystemic Diseases Group encompasses several lines of research related to pathologies that involve complex clinical management that usually falls within the scope of Internal Medicine.

Biospecimen

Retention: SAMPLES WITHOUT DNA

Plasma (EDTA and citrate)

MeSH Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic

Interventions

Registries

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Telangiectasis; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Vascular Malformations; Cardiovascular Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Records; Organization and Administration; Health Services Administration; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• José Luis Patier, MD

  Hospital Universitario Ramón y Cajal

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 12 Months
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 19, 2022
• First Posted: September 22, 2022
• Study Start: April 30, 2021
• Primary Completion: December 31, 2023
• Study Completion: December 31, 2023
• Last Updated: March 17, 2025

Record last verified: 2025-03

Locations

ES (1)