NCT01660984 · CITED IN SOURCE DOCUMENTS

Natural History Study of Children and Adults With Medullary Thyroid Cancer

An NCI or FDA source cites this study. A citation does not establish that it applies to an individual diagnosis.

Phase: Not reported
Status at capture: RECRUITING
Registry last update: 2026-09-08

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.

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What did the study report?

Outcomes, safety and baseline populations are separate source sections. Quality-of-life measures appear under their original outcome titles.

No posted result sections were captured. Registered plans do not establish that a treatment works.

Who could take part

eligibility Criteria: * INCLUSION CRITERIA FOR PATIENTS: * 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. EXCLUSION CRITERIA FOR PATIENTS: -In the opinion of the investigator the patient is not able to return for follow-up visits or obtain required follow-up studies. Inclusion Criteria for Parents or Primary Caregivers * 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. EXCLUSION CRITERIA FOR PARENTS OR PRIMARY CAREGIVERS: None
healthy Volunteers: true
minimum Age: 4 Months
sampling Method: NON_PROBABILITY_SAMPLE
sex: ALL
std Ages: 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.

Treatment arms and interventions

arm Groups

description
Parents or caregivers of study patients to assess their psychosocial experiences and needs.
label
Parents/caregivers
description
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.
label
Patients

Study design

observational Model: COHORT
time Perspective: PROSPECTIVE

Enrollment

count: 259
type: ESTIMATED

Registered outcome plans (not posted results)

primary Outcomes

description
Characterized features will be described and presented.
measure
Study growth rate of primary and metastatic tumor lesions
time Frame
5 years
description
Characterized features will be described and presented.
measure
Study molecular pathways altered in MTC
time Frame
5 years

secondary Outcomes

description
Describe the non-tumor related manifestations of MEN 2
measure
Describe the non-tumor related manifestations of MEN 2
time Frame
5 years
description
Investigate the psychosocial experiences
measure
Investigate the psychosocial experiences
time Frame
5 years

Full study description

brief 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. 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): 1. Clinical and radiological evaluations 2. 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.

Source references

references

citation
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.
pmid
36056624
type
DERIVED