Investigating genetic factors in pheochromocytomas related to MEN2A
Genetic Modifying Factors and Pheochromocytomas in Multiple Endocrine Neoplasia Type 2
Assistance Publique Hopitaux De Marseille · NCT05158712
This study is trying to find out how certain genes affect whether family members with a specific mutation in MEN2A develop pheochromocytoma or not.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 14 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Assistance Publique Hopitaux De Marseille (other) |
| Locations | 1 site (Marseille) |
| Trial ID | NCT05158712 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore the genetic factors that contribute to the variable penetrance of pheochromocytoma in patients with multiple endocrine neoplasia type 2A (MEN2A). The researchers will conduct whole exome sequencing on two families with the p.Cys634Arg mutation to identify genetic variations that may explain why some family members develop pheochromocytoma while others do not. The study focuses on understanding the underlying genetic mechanisms that influence disease expression in affected individuals. By analyzing the genetic data, the study seeks to provide insights into the pathophysiology of MEN2A and its associated conditions.
Who should consider this trial
Good fit: Ideal candidates for this study are adults aged 18 years or older with familial MEN2A C634R, regardless of whether they have developed pheochromocytoma.
Not a fit: Patients who are pregnant, breastfeeding, or unable to understand the study's purpose will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of pheochromocytoma in MEN2A patients.
How similar studies have performed: While there have been studies on genetic factors in neoplasia, this specific investigation into the variable penetrance of pheochromocytoma in MEN2A is novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patient aged 18 years or older * Male or female patient * Patient followed in the investigating department for familial NEM2A C634R (multiple endocrine neoplasia type 2) with or without pheochromocytoma * Patient affiliated to or benefiting from a social security scheme * Patient having given his non-opposition to participate in this study * Patient who has given his consent for the genetic analysis carried out in the framework of the study * Patient able to understand the purpose of the study Exclusion Criteria: * Protected persons (articles L1121-5, L1121-6 and L121-8 of the Public Health Code): pregnant or breastfeeding women, persons deprived of their liberty, under guardianship or curator * Patients unable to understand the purpose of the study and the information note
Where this trial is running
Marseille
- APHM - Hôpital de la Conception — Marseille, France (RECRUITING)
Study contacts
- Study coordinator: Frederic Castinetti
- Email: frederic.castinetti@ap-hm.fr
- Phone: 0491384131
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Neoplasia, Pheochromocytoma, neoplasia, pheochromocytoma