Clinical trial · Observational
Development of a Predictive Model for the Risk of Metastatic Disease in PPGLs, a Retrospective Cohort Study
Development of a Comprehensive Predictive Model for Risk of Metastatic Disease in PPGLs Based on a Combination of Clinical, Biochemical, Genetic, and Pathoanatomical Characteristics a Retrospective National Cohort Study
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (7)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Genetic Predisposition to Disease | — | UNRESOLVED | — |
| Head and Neck Cancer | Malignant Head and Neck Neoplasm | ALIAS | 0.90 |
| Neuroendocrine Tumors | Neuroendocrine Tumor | ONTOLOGY_EXACT | 0.90 |
| Paraganglioma | Paraganglioma | ONTOLOGY_EXACT | 0.98 |
| Pathology | — | UNRESOLVED | — |
| Pheochromocytoma | Adrenal Gland Pheochromocytoma | ALIAS | 0.90 |
| Somatic Mutation | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Malignant or non-malignant disease
- timeFrame
- 25 ys (1996-2021) retrospective data collection of approximately 400 patients until death or until today.
- description
- Defined as metastatic disease
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 0 Years
- Maximum age
- 120 Years
Show eligibility criteria text
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.
References
Publications (20)
- BACKGROUNDNicolas M, Dahia P. Predictors of outcome in phaeochromocytomas and paragangliomas. F1000Res. 2017 Dec 21;6:2160. doi: 10.12688/f1000research.12419.1. eCollection 2017. PMID 29333259
- BACKGROUNDNGS in PPGL (NGSnPPGL) Study Group; Toledo RA, Burnichon N, Cascon A, Benn DE, Bayley JP, Welander J, Tops CM, Firth H, Dwight T, Ercolino T, Mannelli M, Opocher G, Clifton-Bligh R, Gimm O, Maher ER, Robledo M, Gimenez-Roqueplo AP, Dahia PL. Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nat Rev Endocrinol. 2017 Apr;13(4):233-247. doi: 10.1038/nrendo.2016.185. Epub 2016 Nov 18. PMID 27857127
- BACKGROUNDPacak K, Tella SH. Pheochromocytoma and Paraganglioma. In: De Groot LJ, Chrousos G, Dungan K, et al., eds. Endotext. South Dartmouth MA: MDText.com, Inc.; 2000
- BACKGROUNDPlouin PF, Amar L, Dekkers OM, Fassnacht M, Gimenez-Roqueplo AP, Lenders JW, Lussey-Lepoutre C, Steichen O; Guideline Working Group. European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma. Eur J Endocrinol. 2016 May;174(5):G1-G10. doi: 10.1530/EJE-16-0033. PMID 27048283
- BACKGROUNDLenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, Naruse M, Pacak K, Young WF Jr; Endocrine Society. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014 Jun;99(6):1915-42. doi: 10.1210/jc.2014-1498. PMID 24893135
- BACKGROUNDLloyd RV OR, Klöppel G, Rosai J. WHO Classification of Tumours of Endocrine Organs 4th ed. Lyon IARC; 2017
- BACKGROUNDOishi T, Iino K, Okawa Y, Kakizawa K, Matsunari S, Yamashita M, Taniguchi T, Maekawa M, Suda T, Oki Y. DNA methylation analysis in malignant pheochromocytoma and paraganglioma. J Clin Transl Endocrinol. 2016 Dec 23;7:12-20. doi: 10.1016/j.jcte.2016.12.004. eCollection 2017 Mar.