HEPHESTOS - Hereditary Pheochromocytoma Assessment of Tumour Immunologies

What this Trial Is About

Researchers are examining how the immune system functions in people with pheochromocytoma and paraganglioma (PPGL), rare tumors that produce catecholamines. The study focuses on understanding immune differences between individuals with hereditary and non-hereditary forms of these tumors. The goal is to learn how genetics affect immune responses during tumor development and to compare immune system markers in people with and without these tumors, which may help discover new immune-targeted treatments for PPGL. The study includes two parts: Part I involves blood sample collection from patients with PPGL, carriers of gene mutations linked to PPGL, and healthy volunteers at multiple time points including before surgery, after surgery, and during follow-up visits at 1 and 2 years. Part II studies immune cells in tumor tissue samples collected during surgery from patients with hereditary and sporadic PPGL. Blood samples are collected according to routine care or volunteer donation protocols. Participants will have regular blood draws at scheduled visits, including before and after surgery and during follow-up at 1 and 2 years. Researchers will analyze immune cell responses, inflammatory molecules, and proteins in blood and tumor samples, along with genetic factors. Secondary measures include gene activity patterns, immune metabolites, tumor recurrence, metastasis, and survival. The study imposes a low burden with no extra risks beyond standard blood draws, and participation may help improve future therapies for PPGL.

Hereditary Pheochromocytoma Assessment of Tumour Immunologies