Understanding genetic causes of neuroendocrine tumors in Mexican patients

Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients

This study is trying to find out the genetic changes that cause neuroendocrine tumors in Mexican patients to help develop better treatments.

Quick facts

• Study type: Observational
• Enrollment: 750 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: Universidad Nacional Autonoma de Mexico (Academic / other)
• Locations: 3 sites (Mexico City, Mexico City and 2 other locations)
• Trial ID: NCT06523582 on ClinicalTrials.gov

What this trial studies

This project aims to identify the genetic defects associated with neuroendocrine neoplasms (NENs) in a large cohort of Mexican patients. Utilizing three different genetic testing methods, the study will explore both inherited and non-inherited genetic changes that may contribute to the development of these tumors. NENs can vary significantly in their clinical behavior, and understanding their genetic basis could lead to better-targeted treatments. The research addresses a critical gap in genetic testing availability in Mexico, where such tests are not widely accessible.

Who should consider this trial

Good fit: Ideal candidates include adult patients diagnosed with various types of neuroendocrine neoplasms, whether sporadic or familial.

Not a fit: Patients without a diagnosis of neuroendocrine neoplasms or those who do not meet the inclusion criteria may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for patients with neuroendocrine neoplasms.

How similar studies have performed: While the genetic basis of neuroendocrine neoplasms has been explored in other populations, this study's focus on Mexican patients represents a novel approach.

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.

Where this trial is running

Mexico City, Mexico City and 2 other locations

• Hospital de Especialidades, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social — Mexico City, Mexico City, Mexico (Recruiting)
• Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán — Mexico City, Mexico City, Mexico (Recruiting)
• Red de Apoyo a la Investigación, Coordinación de la Investigación Científica, Universidad Nacional Autónoma de México — Mexico City, Mexico City, Mexico (Recruiting)

Study contacts

• Principal investigator: Laura C Hernández Ramírez, MD, PhD — Universidad Nacional Autonoma de Mexico
• Study coordinator: Laura C Hernández Ramírez, MD, PhD

Conditions Neuroendocrine Neoplasm; Neuroendocrine Neoplasm of Gastrointestinal Tract; Neuroendocrine Neoplasm of Lung; Thymic Neuroendocrine Neoplasm; Neuroendocrine Tumor of Pancreas; Gastrointestinal Stromal Tumors; Medullary Thyroid Cancer; Paraganglioma