Real-world belzutifan outcomes and pharmacogenetics in von Hippel-Lindau syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a prospective, real-world Phase 2 interventional study of oral belzutifan at AC Camargo Cancer Center in São Paulo enrolling patients with clinical or genetic confirmation of von Hippel-Lindau syndrome and measurable or progressive VHL-associated tumors. Participants will receive belzutifan with systematic monitoring of tumor response timing, disease progression, and adverse events using RECIST 1.1 and disease-specific imaging criteria. The protocol includes pharmacogenetic testing to link host intrinsic factors with toxicity and treatment response, serial hemoglobin and erythropoietin measurements with prespecified management of anemia, and evaluation of whether erythropoietin supplementation affects tumor growth. Secondary outcomes include health-related quality of life measures and a pharmacoeconomic analysis comparing treated patients to the natural history of VHL disease in the cohort.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Age ≥ 14 years.
* Clinical or genetic confirmation of von Hippel-Lindau (VHL) syndrome.
* Presence of measurable or progressive VHL-associated tumors, as defined by RECIST 1.1 or disease-specific imaging criteria.
* ECOG performance status of 0-2.
* Adequate bone marrow, hepatic, and renal function as defined by laboratory reference values.
* Ability to swallow oral medication.
* Provision of written informed consent prior to enrollment.

Exclusion Criteria:

* Age \< 14 years.
* Absence of a confirmed diagnosis of von Hippel-Lindau (VHL) syndrome.
* Presence of an active malignancy outside the VHL tumor spectrum within the past 3 years, except for adequately treated basal or squamous cell carcinoma of the skin, cervical carcinoma in situ, or other malignancies considered cured for \>2 years.
* Known hypersensitivity or allergic reaction to belzutifan or any excipient in the formulation.
* History of severe or uncontrolled cardiovascular disease, including but not limited to unstable angina, myocardial infarction within the past 6 months, congestive heart failure requiring treatment, or uncontrolled hypertension.
* Active infectious diseases, including HIV, hepatitis B, or hepatitis C.
* Immunosuppressed status, whether due to underlying disease or ongoing therapy.
* History of significant bleeding disorders, including bleeding diathesis, thrombocytopenia, or coagulopathy.
* Radiotherapy administered within 4 weeks prior to study enrollment.
* Major surgical procedure, including for VHL-related tumors, within 4 weeks prior to study enrollment, or immediate need for surgical intervention for tumor management.
* Malabsorption secondary to prior gastrointestinal surgery or active gastrointestinal disease.
* Current use of concomitant medications known to interact with belzutifan and significantly alter its bioavailability.
* Anticipated low adherence to or planned interruption of belzutifan therapy.

Where it's running

• AC Camargo Cancer Center
  São Paulo, São Paulo, Brazil Recruiting

Study contacts

• Study coordinator: José Claudio Casali da Rocha, Head of Oncogenetics
• Email: casali.rocha@accamargo.org.br
• Phone: +55 41 98505 8585

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.