Natural History Study of Children and Adults With Medullary Thyroid Cancer

NCT01660984 | Recruiting

• 2 other identifiers: 12017812-C-0178
• Study Type: observational
• Target: 259
• Locations: 1 country
• Sites: 1

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.

Conditions

Medullary Thyroid Cancer

Keywords

Thyroid Tumor; Multiple Endocrine Neoplasia 2; Pheochromocytoma; RET Mutations; Natural History

Outcome Measures

Primary Outcomes (2)

• Study growth rate of primary and metastatic tumor lesions

  Characterized features will be described and presented.

  5 years

• Study molecular pathways altered in MTC

  Characterized features will be described and presented.

  5 years

Secondary Outcomes (2)

• Describe the non-tumor related manifestations of MEN 2

  5 years

• Investigate the psychosocial experiences

  5 years

Study Arms (2)

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.

Eligibility Criteria

• Age: 4 Months+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (1)

• 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 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Carcinoma, Medullary; Thyroid Neoplasms; Pheochromocytoma

Condition Hierarchy (Ancestors)

Carcinoma, Neuroendocrine; Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms, Ductal, Lobular, and Medullary; Neoplasms, Nerve Tissue; Endocrine Gland Neoplasms; Neoplasms by Site; Head and Neck Neoplasms; Endocrine System Diseases; Thyroid Diseases; Paraganglioma

Study Officials

• John W Glod, M.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Andrea N Lucas

CONTACT

(240) 760-6252; andrea.lucas@nih.gov

John W Glod, M.D.

CONTACT

(240) 760-6194; john.glod@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 7, 2012
• First Posted: August 9, 2012
• Study Start: July 30, 2012
• Last Updated: March 27, 2026

Record last verified: 2025-10-16

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: Clinical data available during the study and indefinitely.
• Access Criteria: Clinical data will be made available via subscription to BTRIS and with the permission of the study PI.

Locations

US (1)