Clinical trial · Observational
Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
NCT03160274CI-TRIAL-00096581recruitingClinicalTrials.gov clinicaltrialsProvenance
- 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)
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma/paraganglioma of various genetic origins.
Conditions
Conditions (8)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Associated Conditions | — | UNRESOLVED | — |
| Bone Cancer | Malignant Bone Neoplasm | ALIAS | 0.90 |
| Inherited Cancer Syndrome | — | UNRESOLVED | — |
| Kidney Neoplasms | Kidney Neoplasm | ONTOLOGY_EXACT | 0.90 |
| Other Cancer | — | UNRESOLVED | — |
| Paraganglioma | Paraganglioma | ONTOLOGY_EXACT | 0.98 |
| Pheochromocytoma | Adrenal Gland Pheochromocytoma | ALIAS | 0.90 |
| Thyroid Neoplasms | Thyroid Gland Neoplasm | ALIAS | 0.90 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Genetic screening | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (2)
- measure
- Identification of germline driver mutation
- timeFrame
- through study completion- average time approximately 6 months
- description
- Genetic screen detects a mutation that is likely responsible for tumor development
- measure
- Identification of somatic driver mutation
- timeFrame
- through study completion- average time approximately 6 months
- description
- Genetic screen detects a mutation that is likely responsible for tumor development
Secondary outcomes (2)
- measure
- Identification of additional, potentially pathogenic genetic variants
- timeFrame
- through study completion- average time approximately 6 months
- description
- Genetic screen detects other mutations with potential pathogenic effects
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: * diagnosis of pheochromocytoma and or paraganglioma * family member with diagnosis of pheochromocytoma and or paraganglioma * diagnosis of a pheochromocytoma- and or paraganglioma-associated condition * family member with diagnosis of a pheochromocytoma- and or paraganglioma-associated condition Exclusion Criteria: * unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition
References
Publications (1)
- BACKGROUNDDahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer. 2014 Feb;14(2):108-19. doi: 10.1038/nrc3648. Epub 2014 Jan 20. PMID 24442145