Quality of Life, Psychological Impact, and Care-related Challenges in Patients Affected by Von Hippel-Lindau Syndrome.

This is a single-centre, cross-sectional observational study aiming to assess the psychological burden, quality of life, and perceived barriers to care in patients with von Hippel-Lindau syndrome (VHL). Data will be collected through an anonymous online questionnaire, specifically designed for the study and administered via Google Forms.

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Key information

Conditions

VHL - Von Hippel-Lindau Syndrome Abnormalities, Multiple Angiomatosis Cardiovascular Diseases Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Nervous System Diseases Neurocutaneous Syndromes Vascular Diseases von Hippel-Lindau Disease

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

IRCCS Ospedale San Raffaele

Milan, MI, 20132, Italy

About this study

This is a single-centre, cross-sectional observational study designed to assess the psychological burden and health-related quality of life in individuals with von Hippel-Lindau (VHL) syndrome, and to explore perceived barriers to healthcare access and the perceived adequacy of multidisciplinary care.

The hypothesis underlying this study is that individuals affected by VHL experience a substantial psychological burden and face variable access to appropriate care pathways, which may differ based on demographic or clinical factors.

The study will involve a single group of participants (n ≈ 200). No control group or randomization is foreseen. The study duration is estimated at 10 years, including data collection and analysis.

Each participant will be involved once, with a single data collection session (approx. 25-30 minutes) through the study-specific questionnaire "VHL: Accesso alle cure e vita quotidiana". The questionnaire, administered in Italian via the Google Forms platform, is not part of routine clinical practice and is administered exclusively for research purposes.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Age ≥18 years
Genetically confirmed diagnosis of von Hippel- Lindau syndrome

Exclusion criteria

Inability to understand or complete the questionnaire, either independently or with assistance

Treatment and study plan

Primary outcomes

Completion of a self- administered questionnaire

Time frame: Single time point (approximately 25-30minutes).

The research activity consists in the anonymous collection of patient- reported data through an online questionnaire. No diagnostic, therapeutic, or experimental interventions are foreseen. The study fully complies with the definition of non-interventional observational research.

Sponsors and collaborators

Lead sponsor

IRCCS Ospedale San Raffaele

Other

Registry information

Official study title

Quality of Life, Psychological Impact and Care-related Challenges in Patients Affected by Von Hippel-Lindau Syndrome: a Single-centre Observational, Transversal, Study.

Acronym: QoL- VHL

Important dates

Study start: 2026
Primary completion: 2035
Study completion: 2035
First posted: Dec 10, 2025
Registry last updated: May 11, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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