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NEM2A-Pheo: Genetic Factors and Pheochromocytomas in Neoplasia Type 2

Sponsor
Assistance Publique Hopitaux De Marseille (Other)
Overall Status
Recruiting
CT.gov ID
NCT05158712
Collaborator
(none)
14
Enrollment
1
Location
21.9
Anticipated Duration (Months)
0.6
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome associated with activating mutations in the RET proto-oncogene, combining medullary thyroid cancer in approximately 100% of cases and pheochromocytoma in 10-80% of cases. While it is accepted that the RET mutation causes variable penetrance of pheochromocytoma in the MEN2A patient population, there is no pathophysiological explanation for the phenotypic variability among patients with the same mutation, including within the same family. The aim of this study is to better characterise the genetic factors that may explain the variable penetrance of pheochromocytoma in MEN2. To this end, the investigatoes plan to perform a whole exome analysis in 2 families carrying the

  1. Cys634Arg mutation causing NEM2A, followed in Marseille by the principal investigator: the 1st family has 11 members all aged over 35 years, for which 8 are carriers of pheochromocytoma while 3 have not developed it (while their age is higher than the latest age of diagnosis of pheochromocytoma in this family); the 2nd family has 3 members (father and daughter with pheochromocytoma developed before 25 years; son without pheochromocytoma at an age of 42 years). The investigators believe that the analysis of these patients should allow the isolation of variants on genes potentially involved in the genesis of a pheochromocytoma in MEN2.
Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    14 participants
    Observational Model:
    Family-Based
    Time Perspective:
    Prospective
    Official Title:
    Genetic Modifying Factors and Pheochromocytomas in Multiple Endocrine Neoplasia Type 2
    Anticipated Study Start Date :
    Feb 15, 2022
    Anticipated Primary Completion Date :
    Jan 14, 2023
    Anticipated Study Completion Date :
    Dec 14, 2023

    Outcome Measures

    Primary Outcome Measures

    1. Genetic profile [Month 0]

      whole-exome analysis between patients with and without pheochromocytoma

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    18 Years and Older
    Sexes Eligible for Study:
    All
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 APHM - Hôpital de la Conception Marseille France 13354

    Sponsors and Collaborators

    • Assistance Publique Hopitaux De Marseille

    Investigators

    • Study Director: François CREMIEUX, APHM

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Assistance Publique Hopitaux De Marseille
    ClinicalTrials.gov Identifier:
    NCT05158712
    Other Study ID Numbers:
    • 2020-65
    First Posted:
    Dec 15, 2021
    Last Update Posted:
    Feb 1, 2022
    Last Verified:
    Jan 1, 2022
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by Assistance Publique Hopitaux De Marseille
    neoplasia
    pheochromocytoma
    Additional relevant MeSH terms:
    Neoplasms
    Pheochromocytoma

    Study Results

    No Results Posted as of Feb 1, 2022