NeoplasiaNEM2A-PheoNCT05158712
Genetic Factors and Pheochromocytomas in Neoplasia Type 2
An observational study of Neoplasia and Pheochromocytoma, run by Assistance Publique Hopitaux De Marseille at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Neoplasia, Pheochromocytoma
- How many people
- 14 participants
- Where
- 1 siteFrance
- Study dates
- 2 Feb 2022to 14 Dec 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Adult, Older adult
Study population: Adult patient followed for familial neoplasia type 2 with or without pheochromocytoma
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
APHM - Hôpital de la Conception
Marseille, 13354
Frédéric Castinetti, frederic.castinetti@ap-hm.fr
About this study
Official title: Genetic Modifying Factors and Pheochromocytomas in Multiple Endocrine Neoplasia Type 2
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 p. 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.
- Conditions
- Neoplasia, Pheochromocytoma
- Keywords
- neoplasia, pheochromocytoma
- Medical subject headings
- Neoplasms, Pheochromocytoma
What is being measured
The primary outcome is the main question the study is designed to answer.
Genetic profile
whole-exome analysis between patients with and without pheochromocytoma
Measured: Month 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Dec 2021
- Study start2 Feb 2022
- Primary completion14 Dec 2023 (estimated)
- Study completion14 Dec 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for NeoplasiaStudies of the same condition, open and under way.
- More trials run by Assistance Publique Hopitaux De MarseilleThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 14 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique Hopitaux De Marseille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- François CREMIEUX, Study director, APHM
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05158712
- Sponsor's protocol ID
- 2020-65
- Acronym
- NEM2A-Pheo
- Status last verified
- Jul 2023
- First submitted
- 2 Dec 2021
- Last updated
- 27 Jul 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Jul 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Modifying Factors and Pheochromocytomas in Multiple Endocrine Neoplasia Type 2
- ClinicalTrials.gov ID
- NCT05158712
- Acronym / sponsor ID
- NEM2A-Pheo / 2020-65
- Conditions
- Neoplasia, Pheochromocytoma
- Keywords
- neoplasia, pheochromocytoma
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 14 participants (estimated)
- Lead sponsor
- Assistance Publique Hopitaux De MarseilleUniversity, hospital or other
- Study start
- 2 Feb 2022 (actual)
- Primary completion
- 14 Dec 2023 (estimated)
- Study completion
- 14 Dec 2023 (estimated)
- First posted
- 15 Dec 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 p. 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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Adult patient followed for familial neoplasia type 2 with or without pheochromocytoma
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Genetic profile
Time frame: Month 0
whole-exome analysis between patients with and without pheochromocytoma
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jul 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
François CREMIEUX study director
APHM
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neoplasia and Pheochromocytoma, run by Assistance Publique Hopitaux De Marseille at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 27 Jul 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Frederic Castinetti (0491384131 ext. 33, frederic.castinetti@ap-hm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genetic profile (time frame: Month 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Jul 2023.