What is this study trying to find out about neuroendocrine neoplasms?

This study aims to identify genetic defects that cause neuroendocrine neoplasms in Mexican patients. Researchers will use advanced genetic testing methods to better understand how these tumors develop and behave. The project is led by the Universidad Nacional Autonoma de Mexico and will help improve knowledge about the molecular causes of these tumors.

Who may be eligible for this neuroendocrine neoplasm clinical trial?

Adults aged 18 years and older with a diagnosis of any type of neuroendocrine neoplasm may be eligible. Participants of all genders can join, including those with sporadic or familial forms and related syndromes. People must be willing to provide informed consent to participate. Please review eligibility criteria for more details.

Is there any cost to participate in this neuroendocrine neoplasm clinical trial?

Study-related care, including genetic testing and all trial visits, is provided at no cost. However, personal travel expenses may vary and are not guaranteed to be covered. Participants should plan accordingly for any travel or accommodation costs.

Actively Recruiting

Age: 18Years +

All Genders

Healthy Volunteers

ID06523582

Study of Genetic Causes of Various Neuroendocrine Tumors in Mexican Adults

Led by Universidad Nacional Autonoma de Mexico · Updated on 2024-07-26

750

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Neuroendocrine neoplasms NENs are a diverse group of tumors that arise from hormone-producing cells and can develop in various organs. Their behavior ranges from benign to aggressive, sometimes causing serious health problems due to excess hormone production. Many NENs are inherited or part of genetic syndromes, while others arise from non-inherited genetic changes. This research aims to identify genetic defects causing NENs in a large group of Mexican patients, improving understanding of their molecular causes and potential treatment targets. This study collects blood and tissue samples from adult patients with different types of NENs at two hospitals in Mexico City. Participants undergo genetic testing using three methods targeted gene sequencing, analysis of gene copy number changes, and full exome sequencing in selected cases. The study also gathers detailed clinical, laboratory, imaging, and pathology information, and offers genetic screening to family members when appropriate. Samples and data are carefully stored and analyzed to detect genetic variants associated with NENs. Participants provide blood and, when possible, tumor tissue samples for DNA analysis. Researchers collect clinical and family history data, along with laboratory and imaging results. The main outcome is identifying genetic defects linked to NENs over a follow-up period of up to 15 years. Participants who want to know their genetic results receive detailed reports. The study seeks to correlate genetic findings with clinical features and outcomes, aiming to discover new genetic associations and improve future diagnosis and treatment strategies.

CONDITIONS

Brief Title

Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients

Who Can Participate

Age: 18Years +

All Genders

Healthy Volunteers

Eligibility Criteria

You may qualify if you...

Adults aged 18 years or older
Diagnosis of any type of isolated or familial neuroendocrine neoplasm (NEN), including bronchopulmonary, gastrointestinal, pancreatic, medullary thyroid carcinoma, paragangliomas, pheochromocytomas, pituitary tumors, and primary hyperparathyroidism
Diagnosis of familial isolated NENs such as familial pituitary adenoma, familial pheochromocytomas and paragangliomas, familial primary hyperparathyroidism, familial gastrointestinal stromal tumors, and X-linked acrogigantism
Diagnosis of clinical syndromes involving NENs, including Carney complex, Carney-Stratakis syndrome, Carney triad, Cowden syndrome, DICER1 syndrome, Li-Fraumeni syndrome, Lynch syndrome, multiple endocrine neoplasia types 1, 2, and 4, neurofibromatosis type 1, Pacak-Zhuang syndrome, paraganglioma-pheochromocytoma and pituitary adenoma syndrome, tuberous sclerosis complex, and Von Hippel Lindau syndrome

You will not qualify if you...

Age younger than 18 years
Refusal to give informed consent

Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - At recruitment and ongoing sample collection as needed

Participants provide blood and tumor tissue samples for genetic testing to identify germline and somatic genetic defects associated with neuroendocrine neoplasms.

1 visit at recruitment; additional visits may occur depending on surgical tumor excision

Long-term Monitoring

Duration - Up to 15 years

Participants are followed prospectively for up to 15 years to collect clinical outcomes and correlate genetic findings with disease progression and treatment responses.

Periodic visits as clinically indicated for follow-up and outcome data collection