Medullary Thyroid CancerNCT01660984
Natural History Study of Children and Adults With Medullary Thyroid Cancer
An observational study of Medullary Thyroid Cancer, run by National Cancer Institute (NCI) at 1 site in United States.
Trial summary
Background: Medullary thyroid cancer (MTC) is a rare cancer of the thyroid gland. In children and adults, it is often part of a condition called Multiple Endocrine Neoplasia 2 (MEN2). MEN2 is usually caused by a genetic mutation, and it can cause a number of problems in addition to MTC. Read more about this study
- Who is it for?
- Ages 4 months and older
- Conditions the study is for
- Medullary Thyroid Cancer
- How many people
- 105 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Jul 2012to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 4 months and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with histologically or cytologically confirmed MTC, confirmed by the Laboratory of Pathology, NCI, or confirmed MEN2A or MEN2B diagnosis, regardless of presence of MTC. Parents or caregivers of the enrolled patients will also be enrolled.
Who may be able to join
- Patients must have histologically or cytologically confirmed MTC, confirmed by the Laboratory of Pathology, NCI OR Confirmation of MEN2A or MEN2B diagnosis, regardless of presence of MTC.
- Performance Status: Ability to travel to the NIH and to undergo evaluations to be performed on this protocol.
- Informed Consent: Ability of patient or their legal guardian (if the patient is <18 years old) to understand and willing to sign a written informed consent document.
- Prior and current therapy: For the purpose of this study subjects who have not previously received medical or surgical treatment, patients, who have previously received medical or surgical treatment, and subjects who are currently receiving medical treatment and/or radiation for MEN 2 related manifestation(s) will be eligible. Prior and current treatment for MEN 2 related manifestations will be recorded at trial entry and throughout the study.
- Patients must have a primary care provider (for example a primary oncologist or endocrinologist) who can provide and coordinate the medical care for the patient.
- Must be a parent or primary caregiver of a patient (< 21) who has a histologically or cytologically confirmed MTC or who have MEN2 (regardless of MTC status).
- Ability to understand and be willing to sign a written informed consent document.
Who cannot join
- -In the opinion of the investigator the patient is not able to return for follow-up visits or obtain required follow-up studies.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Longitudinal Assessment and Natural History Study of Children and Adults With MEN2A or MEN2B With or Without Medullary Thyroid Carcinoma
Background:
- Medullary thyroid cancer (MTC) is a rare cancer of the thyroid gland. In children and adults, it is often part of a condition called Multiple Endocrine Neoplasia 2 (MEN2). MEN2 is usually caused by a genetic mutation, and it can cause a number of problems in addition to MTC. These problems include adrenal gland tumors, hormone changes, and problems with the bones and other organs. Not much is known about how MTC develops over time, especially in people with MEN2. Researchers want to study MTC in children and adults and see how it affects their growth and development.
Read more
Objectives:
- To study how medullary thyroid cancer affects children and adults over time.
Eligibility:
- Children and adults who have medullary thyroid cancer.
Design:
- Participants will be screened with a brief physical exam and medical history. Blood and tissue samples will be collected to see whether participants have the MEN2 genetic mutation.
- Treatment will not be provided as part of this study. However, participants will be receiving standard care for MTC. They may be eligible for other clinical trials at the National Institutes of Health.
- Participants will have regular study visits every 6 to 12 months to evaluate their MTC and any treatment. Blood tests, imaging studies, and other tests may be performed as needed to monitor the disease.
- Participants and their parents/guardians will also complete questionnaires about their health and emotions during the study.
Read the detailed description
Background:
- Medullary Thyroid Carcinoma (MTC) is a calcitonin producing tumor arising from the parafollicular C cells of thyroid. In children and adults, MTC is usually seen in association with Multiple Endocrine Neoplasia (MEN) 2A and 2B, which are rare cancer syndromes resulting from germline mutations of Rearranged during Transfection (RET) proto-oncogene. MTC develops in virtually all patients with MEN 2, and is the leading cause of death in these patients. Patients with MEN 2 may have other characteristic manifestations such as pheochromocytoma and hyperparathyroidism in MEN 2A and pheochromocytoma, ganglioneuromatosis, and skeletal deformities in MEN 2B.
- Complete surgical resection is the only current curative treatment for MTC, and the tumor is unresponsive to standard chemotherapy and conventional doses of radiation therapy. However, more than half the patients present with advanced or metastatic disease and cannot be cured surgically. Novel agents are currently under investigation for treatment of MTC, and vandetanib, an oral RET and receptor tyrosine kinase (RTK) inhibitor was recently approved by the FDA for adults with advanced or metastatic MTC. Vandetanib also has activity in children with hereditary MTC.
- However, complete responses to RTKs have not been observed, and some patients develop resistance to the treatment with RET and RTK inhibitors or have primary refractory disease. The natural history of MTC, particularly in patients with MEN 2, the molecular pathways involved in tumorigenesis, and the development of resistance to targeted therapies are not well understood.
Objectives:
-The overall objective of this longitudinal study is to develop a better understanding of the biology and natural history of MEN2 with or without MTC, particularly in children and adults with MEN 2A and 2B, as well as study non-tumor manifestations of MEN 2. This will hopefully allow for developing more effective treatment interventions for tumor and non-tumor related manifestations, and more sensitive endpoints in clinical trials.
Eligibility:
- Patients, must have histologically or cytologically confirmed MTC, confirmed by the Laboratory of Pathology, NCI or who have MEN2 (regardless of MTC status).
- Parent or primary caregiver of patient participant (<= 21)
- Participants may be undergoing standard care or receiving treatment on a clinical trial while participating in this study.
Design:
This study will allow for longitudinal evaluations of MTC and MEN2 and non-tumor related manifestations of MEN 2A and 2B in children and adults. Evaluations will consist of the following (summarized):
- Clinical and radiological evaluations
- Detailed pathologic and molecular analysis of tumor specimens will be performed, including immunohistochemistry (IHC), comparative genomic hybridization (CGH), and genome sequencing. CGH and genome sequencing will be performd with co-enrollment on protocol 10-C-0086 Comprehensive Omics Analysis of Pediatric Solid Tumors and Establishment of a Repository for Related Biological Studies.
- Conditions
- Medullary Thyroid Cancer
- Keywords
- Thyroid Tumor, Multiple Endocrine Neoplasia 2, Pheochromocytoma, RET Mutations, Natural History
- Medical subject headings
- Carcinoma, Medullary, Thyroid Neoplasms, Pheochromocytoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Parents/caregivers | Parents or caregivers of study patients to assess their psychosocial experiences and needs. | |
| Patients | Children and adults with MTC and MEN2B, other non-tumor manifestations of MEN2, and patients with MEN2 who do not demonstrate MTC. Characterize the biology and manifestations of their disease. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Study growth rate of primary and metastatic tumor lesions
Characterized features will be described and presented.
Measured: 5 years
Study molecular pathways altered in MTC
Characterized features will be described and presented.
Measured: 5 years
Secondary outcomes (2)
Describe the non-tumor related manifestations of MEN 2
Describe the non-tumor related manifestations of MEN 2
Measured: 5 years
Investigate the psychosocial experiences
Investigate the psychosocial experiences
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Aug 2012 (estimated)
- Study start30 Jul 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Medullary Thyroid CancerStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 105 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- John W Glod, M.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01660984
- Sponsor's protocol ID
- 120178
- Other IDs
- 12-C-0178
- Status last verified
- 10 Sep 2026
- First submitted
- 7 Aug 2012
- Last updated
- 5 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: All IPD recorded in the medical record will be shared with intramural investigators upon request.
Publications
Li I, Hartley IR, Klubo-Gwiedzdzinska J, Reynolds JC, Thomas BJ, Hogan J, Enyew MM, Dombi E, Ling A, Akshintala S, Venzon DJ, Del Rivero J, Collins M, Glod JW. Fracture Risk in Pediatric Patients With MEN2B. J Clin Endocrinol Metab. 2022 Nov 25;107(12):e4371-e4378. doi: 10.1210/clinem/dgac500.
PubMed 36056624
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Assessment and Natural History Study of Children and Adults With MEN2A or MEN2B With or Without Medullary Thyroid Carcinoma
- ClinicalTrials.gov ID
- NCT01660984
- Acronym / sponsor ID
- 120178
- Conditions
- Medullary Thyroid Cancer
- Keywords
- Thyroid Tumor, Multiple Endocrine Neoplasia 2, Pheochromocytoma, RET Mutations, Natural History
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 105 participants (actual)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 30 Jul 2012 (actual)
- First posted
- 9 Aug 2012 (estimated)
- 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.
Background:
- Medullary thyroid cancer (MTC) is a rare cancer of the thyroid gland. In children and adults, it is often part of a condition called Multiple Endocrine Neoplasia 2 (MEN2). MEN2 is usually caused by a genetic mutation, and it can cause a number of problems in addition to MTC. These problems include adrenal gland tumors, hormone changes, and problems with the bones and other organs. Not much is known about how MTC develops over time, especially in people with MEN2. Researchers want to study MTC in children and adults and see how it affects their growth and development.
Objectives:
- To study how medullary thyroid cancer affects children and adults over time.
Eligibility:
- Children and adults who have medullary thyroid cancer.
Design:
- Participants will be screened with a brief physical exam and medical history. Blood and tissue samples will be collected to see whether participants have the MEN2 genetic mutation.
- Treatment will not be provided as part of this study. However, participants will be receiving standard care for MTC. They may be eligible for other clinical trials at the National Institutes of Health.
- Participants will have regular study visits every 6 to 12 months to evaluate their MTC and any treatment. Blood tests, imaging studies, and other tests may be performed as needed to monitor the disease.
- Participants and their parents/guardians will also complete questionnaires about their health and emotions during the study.
Detailed description
Background:
- Medullary Thyroid Carcinoma (MTC) is a calcitonin producing tumor arising from the parafollicular C cells of thyroid. In children and adults, MTC is usually seen in association with Multiple Endocrine Neoplasia (MEN) 2A and 2B, which are rare cancer syndromes resulting from germline mutations of Rearranged during Transfection (RET) proto-oncogene. MTC develops in virtually all patients with MEN 2, and is the leading cause of death in these patients. Patients with MEN 2 may have other characteristic manifestations such as pheochromocytoma and hyperparathyroidism in MEN 2A and pheochromocytoma, ganglioneuromatosis, and skeletal deformities in MEN 2B.
- Complete surgical resection is the only current curative treatment for MTC, and the tumor is unresponsive to standard chemotherapy and conventional doses of radiation therapy. However, more than half the patients present with advanced or metastatic disease and cannot be cured surgically. Novel agents are currently under investigation for treatment of MTC, and vandetanib, an oral RET and receptor tyrosine kinase (RTK) inhibitor was recently approved by the FDA for adults with advanced or metastatic MTC. Vandetanib also has activity in children with hereditary MTC.
- However, complete responses to RTKs have not been observed, and some patients develop resistance to the treatment with RET and RTK inhibitors or have primary refractory disease. The natural history of MTC, particularly in patients with MEN 2, the molecular pathways involved in tumorigenesis, and the development of resistance to targeted therapies are not well understood.
Objectives:
-The overall objective of this longitudinal study is to develop a better understanding of the biology and natural history of MEN2 with or without MTC, particularly in children and adults with MEN 2A and 2B, as well as study non-tumor manifestations of MEN 2. This will hopefully allow for developing more effective treatment interventions for tumor and non-tumor related manifestations, and more sensitive endpoints in clinical trials.
Eligibility:
- Patients, must have histologically or cytologically confirmed MTC, confirmed by the Laboratory of Pathology, NCI or who have MEN2 (regardless of MTC status).
- Parent or primary caregiver of patient participant (<= 21)
- Participants may be undergoing standard care or receiving treatment on a clinical trial while participating in this study.
Design:
This study will allow for longitudinal evaluations of MTC and MEN2 and non-tumor related manifestations of MEN 2A and 2B in children and adults. Evaluations will consist of the following (summarized):
- Clinical and radiological evaluations
- Detailed pathologic and molecular analysis of tumor specimens will be performed, including immunohistochemistry (IHC), comparative genomic hybridization (CGH), and genome sequencing. CGH and genome sequencing will be performd with co-enrollment on protocol 10-C-0086 Comprehensive Omics Analysis of Pediatric Solid Tumors and Establishment of a Repository for Related Biological Studies.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Parents/caregivers | – | –Parents or caregivers of study patients to assess their psychosocial experiences and needs. |
| Patients | – | –Children and adults with MTC and MEN2B, other non-tumor manifestations of MEN2, and patients with MEN2 who do not demonstrate MTC. Characterize the biology and manifestations of their disease. |
Who may qualify
- Ages
- 4 months and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with histologically or cytologically confirmed MTC, confirmed by the Laboratory of Pathology, NCI, or confirmed MEN2A or MEN2B diagnosis, regardless of presence of MTC. Parents or caregivers of the enrolled patients will also be enrolled.
Key inclusion criteria (7 listed)
- Patients must have histologically or cytologically confirmed MTC, confirmed by the Laboratory of Pathology, NCI OR Confirmation of MEN2A or MEN2B diagnosis, regardless of presence of MTC.
- Performance Status: Ability to travel to the NIH and to undergo evaluations to be performed on this protocol.
- Informed Consent: Ability of patient or their legal guardian (if the patient is <18 years old) to understand and willing to sign a written informed consent document.
- Prior and current therapy: For the purpose of this study subjects who have not previously received medical or surgical treatment, patients, who have previously received medical or surgical treatment, and subjects who are currently receiving medical treatment and/or radiation for MEN 2 related manifestation(s) will be eligible. Prior and current treatment for MEN 2 related manifestations will be recorded at trial entry and throughout the study.
- Patients must have a primary care provider (for example a primary oncologist or endocrinologist) who can provide and coordinate the medical care for the patient.
Key exclusion criteria (1 listed)
- -In the opinion of the investigator the patient is not able to return for follow-up visits or obtain required follow-up studies.
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
Study growth rate of primary and metastatic tumor lesions
Time frame: 5 years
Characterized features will be described and presented.
Study molecular pathways altered in MTC
Time frame: 5 years
Characterized features will be described and presented.
2 secondary outcomes
Describe the non-tumor related manifestations of MEN 2
Time frame: 5 years
Investigate the psychosocial experiences
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Derived from this study: PubMed 36056624Li I, Hartley IR, Klubo-Gwiedzdzinska J, Reynolds JC, Thomas BJ, Hogan J, Enyew MM, Dombi E, Ling A, Akshintala S, Venzon DJ, Del Rivero J, Collins M, Glod JW. Fracture Risk in Pediatric Patients With MEN2B. J Clin Endocrinol Metab. 2022 Nov 25;107(12):e4371-e4378. doi: 10.1210/clinem/dgac500.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. All IPD recorded in the medical record will be shared with intramural investigators upon request.
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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.
John W Glod, M.D. principal investigator
National Cancer Institute (NCI)
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 Medullary Thyroid Cancer, run by National Cancer Institute (NCI) at 1 site in United States.
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 1 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: under way, not looking for participants, as of the sponsor's last update on 5 Nov 2026. 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 United States. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Study growth rate of primary and metastatic tumor lesions (time frame: 5 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01660984, which also lists 1 linked publication.
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 5 Nov 2026; AzTrials last refreshed its copy on 7 Nov 2026.