NCT06523582 Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
| NCT ID | NCT06523582 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Universidad Nacional Autonoma de Mexico |
| Condition | Neuroendocrine Neoplasm |
| Study Type | OBSERVATIONAL |
| Enrollment | 750 participants |
| Start Date | 2022-08-03 |
| Primary Completion | 2037-03-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 750 participants in total. It began in 2022-08-03 with a primary completion date of 2037-03-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs. Their clinical behavior is quite variable, encompassing both benign lesions and aggressive tumors that invade surrounding and/or distant structures. NENs may also cause serious morbidity due to hormone oversecretion. NENs are among the most frequently inherited human tumors, presenting either isolated or as part of syndromes in which a single patient or family develops multiple tumors. There are also non-inherited changes in the genetic information of the tumor cells that are potential targets for treatment. Both inherited and non-inherited DNA defects can be identified using modern routine genetic tests which, unfortunately, are not widely available in Mexico. This project seeks to uncover the genetic defects causing NENs in a large cohort of Mexican patients, using three different methods for genetic testing. Adult individuals with various types of NENs from two reference hospitals in Mexico City will be invited to participate. After completing informed consent, blood and, if possible, tissue samples will be obtained from all participants. Clinical details, laboratory results, imaging studies, and histopathological data at disease presentation will be retrieved. An initial screening will be performed by analyzing changes in the sequence of multiple genes that have been associated with the occurrence of NENs. In cases with negative screening, a specific method to assess changes in the number of copies of the same genes will also be employed. Finally, sequences of all DNA regions encoding information required to make proteins will be obtained in selected cases. Analyses will be carried out in blood and, if available, also in tumor tissue samples from study participants. Screening of additional family members will be offered. This project will accurately describe the repertoire of specific defects causing NENs in the study population, and will likely uncover and characterize novel genetic associations. The results will contribute for a better understanding of the alterations within and outside known driver genes that shape syndromic presentations, tumor behaviors, and inheritance patterns in individuals with NENs. These data will contribute to improve the information on the molecular bases of NENs, including alterations that can be used as therapeutic targets.
Eligibility Criteria
Inclusion Criteria: Adult patients with a new or previous clinical diagnosis of any of the following conditions: * Isolated NENs with sporadic presentation, including bronchopulmonary NENs, gastrointestinal NENs, medullary thyroid carcinoma, pancreatic NENs, paragangliomas, pheochromocytomas, pituitary neuroendocrine tumors, and primary hyperparathyroidism. * Familial isolated NENs, including familial isolated pituitary adenoma, familial pheochromocytomas and paragangliomas, familial primary hyperparathyroidism, familial gastrointestinal stromal tumors and X-linked acrogigantism. * Clinical syndromes encompassing NENs, with familial or sporadic presentation, including Carney complex, Carney-Stratakis syndrome, Carney triad, Cowden syndrome, DICER1 syndrome, Li-Fraumeni syndrome, Lynch syndrome, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, multiple endocrine neoplasia type 4, neurofibromatosis type 1, Pacak-Zhuang syndrome, paraganglioma, pheochromocytoma and pituitary adenoma syndrome, tuberous sclerosis complex, Von Hippel Lindau syndrome. Exclusion criteria: * Age \<18 years. * Refusal to give informed consent.
Contact & Investigator
Laura C Hernández Ramírez, MD, PhD
PRINCIPAL INVESTIGATOR
Universidad Nacional Autonoma de Mexico
Frequently Asked Questions
Who can join the NCT06523582 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Neuroendocrine Neoplasm. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06523582 currently recruiting?
Yes, NCT06523582 is actively recruiting participants. Contact the research team at laura.hernandez@cic.unam.mx for enrollment information.
Where is the NCT06523582 trial being conducted?
This trial is being conducted at Mexico City, Mexico, Mexico City, Mexico, Mexico City, Mexico.
Who is sponsoring the NCT06523582 clinical trial?
NCT06523582 is sponsored by Universidad Nacional Autonoma de Mexico. The principal investigator is Laura C Hernández Ramírez, MD, PhD at Universidad Nacional Autonoma de Mexico. The trial plans to enroll 750 participants.