Prevalence of Obstructive Sleep Apnea in HHT and HHT-specific Challenges in OSA-therapy - a Retrospective Cohort Study

NCT07886632 | Not Yet Recruiting

• 1 other identifier: 26-13316-BO
• Study Type: observational
• Target: 1,000
• Locations: 0 countries
• Sites: N/A

Brief Summary

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder (prevalence approx. 1:5,000-1:8,000) characterized by recurrent epistaxis, mucocutaneous telangiectasias and visceral vascular malformations. Chronic bleeding frequently leads to anemia and iron deficiency, which is associated with restless legs syndrome. Our earlier work suggested that up to 22% of affected patients may suffer from it. Nocturnal epistaxis, nasal clots, and nasal obstruction may further disturb sleep, and positive airway pressure (PAP) therapy may dry out the nasal mucosa, aggravate bleeding, and cause mask intolerance. The association between obstructive sleep apnea (OSA) and HHT has not yet been adequately studied. This retrospective, exploratory, hypothesis-generating analysis aims to determine the frequency of OSA diagnoses documented in the clinical records of our existing HHT cohort. The primary endpoint is this documented frequency, explicitly interpreted as a minimum frequency rather than a true prevalence, since not all patients were systematically screened. Secondary endpoints include details of OSA diagnostics and treatment course, complications of OSA therapy in HHT patients, OSA-related comorbidities (e.g., arterial hypertension, obesity), medication and potential adverse effects (especially respiratory depression), hypoxia-related laboratory parameters (iron status, anemia), and general patient and disease characteristics (sex, weight, height, Curaçao criteria). The findings are intended to inform a possible subsequent prospective screening phase.

Conditions

Hereditary Hemorrhagic Telangiectasia (HHT); Obstructive Sleep Apnea (OSA)

Outcome Measures

Primary Outcomes (1)

• obstructive sleep apnea

  up to 12 years from first included patients, end of 2026 the latest

Study Arms (2)

HHT group without OSA

HHT patients without OSA

HHT with OSA

HHT patients with OSA

Eligibility Criteria

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

Study Population

the entirety of patients presenting at our center with confirmed HHT diagnosis between 2014 and 2026 above 18 years

You may qualify if:

• confirmed HHT for group HHT without OSA, confirmed HHT and documented OSA for group HHT with OSA

Sponsors & Collaborators

• University Hospital, Essen: lead

MeSH Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic; Sleep Apnea, Obstructive

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; Sleep Apnea Syndromes; Apnea; Respiration Disorders; Respiratory Tract Diseases; Sleep Disorders, Intrinsic; Dyssomnias; Sleep Wake Disorders; Nervous System Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr.med.

Study Record Dates

• First Submitted: October 14, 2026
• First Posted: October 21, 2026
• Study Start: October 1, 2026
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: October 21, 2026

Record last verified: 2026-10

Data Sharing

• IPD Sharing: Will not share