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Starting soon Observational

Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study

NCT04788927 · tracked via the Priya Life Science Denmark tracker
Phase
Observational
Started
2023-10-01
Last updated
2023-04-07

Condition(s) studied

ParagangliomaPheochromocytomaGenetic Predisposition to DiseasePathologySomatic MutationHead and Neck CancerNeuroendocrine Tumors

Study summary

Phaeochromocytomas and paragangliomas (PPGLs) are tumours of the adrenal medulla and extra-adrenal sympathetic nervous system, some which can become metastatic. It is a very rare disease and the tumours are often detected late. Approximately 50 % of the tumours are caused by germline genetic variants screening programmes are recommended for patients and their family members; however, they are not yet well-targeted with respect to individual prognosis. In this study the investigatorscaim to characterize the genotype-phenotype associations in all Danish patients (n=400) diagnosed with PPGLs who have been followed in tertiary centres using medical records and national registries. To this end novel immunohistochemical, genetic, and epigenetic biomarkers in tumour tissues samples from biobank material (blood samples and tumour tissue) will be investigated to develop a comprehensive predictive algorithm for disease prognosis. The study will provide a clinical tool for an improved targeted screening program and subsequently prevention of disease development.

Eligibility

Sex
ALL
Min age
0 Years
Max age
120 Years
Healthy volunteers
No
Inclusion Criteria: * All Danish patients diagnosed with PPGLs or genetic variants that predispose to PPGLs since 1996 will be included. Exclusion Criteria: * None from the initial data collection. If there are no tumour tissue or blood samples from a patient in the biobanks they will subsequently be excluded.

Primary outcome measure(s)

  • Malignant or non-malignant disease — 25 ys (1996-2021) retrospective data collection of approximately 400 patients until death or until today.
    Defined as metastatic disease

Trial sites (2)

FacilityCityRegionStatus
Rigshospitalet Copenhagen Denmark
National University Hospital, Department of Medical Endocrinology Copenhagen Denmark
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04788927 on ClinicalTrials.gov ↗ ← All trials in Denmark