Familial Medullary Thyroid Carcinoma (FMTC) Clinical Trials

Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant cancer predisposition syndrome caused by germline gain-of-function mutations in the RET proto-oncogene (chromosome 10q11.2), resulting in constitutive receptor tyrosine kinase activation. Nearly all RET mutation carriers develop medullary thyroid carcinoma (MTC) derived from parafollicular C cells by adulthood if the thyroid is not removed prophylactically. The treatment landscape for advanced and metastatic MTC changed dramatically with the arrival of selective RET inhibitors.

The most common symptoms of Familial Medullary Thyroid Carcinoma include Medullary thyroid carcinoma, Elevated calcitonin levels, Thyroid nodule or mass, Metastatic disease with variable symptoms, Diarrhea from calcitonin excess, among others. Near-complete penetrance by adulthood in RET mutation carriers (varies by specific codon mutation); comprises ~25% of medullary thyroid cancers. Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Familial Medullary Thyroid Carcinoma from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. RET testing is the cornerstone of FMTC management. For hereditary cases, germline RET mutation testing identifies at-risk family members and guides timing of prophylactic thyroidectomy in childhood (timing depends on specific RET codon mutation per ATA risk stratification, typically before age 5 for high-risk codons like 634).

As of September 2026, Trial Friend's curated drug index does not include an FDA-approved treatment specific to Familial Medullary Thyroid Carcinoma. The Treatments section of this page checks FDA drug labels live and lists any approved drug whose label names the condition, and the trials listed below cover the investigational options.

Familial Medullary Thyroid Carcinoma is caused by variants in the RET gene. FMTC is the MTC-only end of the MEN2A spectrum; the RET codon involved predicts risk level and the recommended age for prophylactic thyroidectomy.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it. Near-complete penetrance by adulthood in RET mutation carriers (varies by specific codon mutation); comprises ~25% of medullary thyroid cancers. Genetic testing confirms the diagnosis.

Yes. Genetic testing for Familial Medullary Thyroid Carcinoma looks at the RET gene. FMTC is the MTC-only end of the MEN2A spectrum; the RET codon involved predicts risk level and the recommended age for prophylactic thyroidectomy.

It is autosomal dominant, so each child of an affected parent has a 1 in 2 chance of inheriting it.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Familial Medullary Thyroid Carcinoma clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Familial Medullary Thyroid Carcinoma clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.