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Longitudinal Assessment and Natural History Study of Children and Young Adults With Medullary Thyroid Carcinoma

1 Year
Open (Enrolling)
Medullary Thyroid Carcer

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Trial Information

Longitudinal Assessment and Natural History Study of Children and Young Adults With Medullary Thyroid Carcinoma


- Medullary Thyroid Carcinoma (MTC) is a calcitonin producing tumor arising from the
parafollicular C cells of thyroid. In children and young 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.


-The overall objective of this longitudinal study is to develop a better understanding of
the biology and natural history of MTC, particularly in children and young 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.


- Patients less than or equal to 25 years of age, must have histologically or
cytologically confirmed MTC, confirmed by the Laboratory of Pathology, NCI

- Participants may be undergoing standard care or receiving treatment on a clinical trial
while participating in this study.


This study will allow for longitudinal evaluations of MTC and non-tumor related
manifestations of MEN 2A and 2B in children and young adults. Evaluations will consist of
the following (summarized):

1. Clinical and radiological evaluations every 6 - 12 months

2. Detailed pathologic and molecular analysis of tumor specimens will be performed,
including immunohistochemistry (IHC), comparative genomic hybridization (CGH), and
genome sequencing.

Inclusion Criteria


- Patients must have histologically or cytologically confirmed MTC, confirmed by the
Laboratory of Pathology, NCI

- Disease status: Patients must have evidence of active MTC as documented by either
elevated plasma biomarkers (CEA and/or calcitonin), or presence of evaluable or
measurable disease.

- Age: less than or equal to 25 years of age

- Performance Status: Ability to travel to the NIH and to undergo evaluations to be
performed on this protocol.

- Informed Consent: All patients or their legal guardians (if the patients is< 18 years
old) must sign an IRB-approved document of informed consent to demonstrate their
understanding of the investigational nature and the risks of this study before any
protocol-related studies are performed. When appropriate, pediatric subjects will be
included in all discussions.

- 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 a MEN 2 related manifestations 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


- In the opinion of the investigator the patient is not able to return for follow-up
visits or obtain required follow-up studies.

- Individuals who are pregnant or breast feeding or who become pregnant while enrolled
on this trial will not be excluded from participation, but will not undergo
radiographic evaluations or other studies for research purposes, which might
negatively impact on the pregnancy.

Type of Study:


Study Design:

Time Perspective: Prospective

Principal Investigator

Brigitte C Widemann, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Cancer Institute (NCI)


United States: Federal Government

Study ID:




Start Date:

July 2012

Completion Date:

Related Keywords:

  • Medullary Thyroid Carcer
  • Thyroid Tumor
  • Multiple Endocrine Neoplasia 2
  • Pheochromocytoma
  • RET Mutations
  • Thyroid Diseases



National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, Maryland  20892