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ORPHA:1332

Medullary thyroid carcinoma

medium confidenceDisorder

Also known as: MTC

Publications

28,627

97.9th percentile

Trials

103

Interventional, condition-specific

Researchers

1,315

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Medullary thyroid carcinoma (MTC) is developed from thyroid C cells that secrete calcitonin (CT).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (16)

C cell carcinoma · carcinoma of parafollicular cell · carcinoma, C-cell, malignant · medullary carcinoma · medullary carcinoma of the thyroid · medullary carcinoma of the thyroid gland · medullary carcinoma of thyroid · medullary carcinoma of thyroid gland · medullary thyroid cancer · medullary thyroid carcinoma · medullary thyroid gland carcinoma · parafollicular cell carcinoma · thyroid gland medullary cancer · thyroid gland medullary carcinoma · thyroid gland neuroendocrine carcinoma · thyroid medullary carcinoma

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    28,627 matched papers (15,039 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Dysphagia; Lymphadenopathy; Dysphonia) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationPresent

    8 FDA · 5 EMA designations (4 FDA orphan-indication approvals) — e.g. pentagastrin Source

  6. Interventional trialPresent

    103 matched on ClinicalTrials.gov (16 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

15

Associated phenotypes · MONDO:0015277

  • Dysphagia
  • Lymphadenopathy
  • Dysphonia
  • Weight loss
  • Primary hyperparathyroidism

Showing 5 of 15 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

13

Designations · 4 with FDA orphan-indication approval

  • FDA pentagastrinmedullary thyroid cancer · 2020-04-21 · Not FDA Approved for Orphan Indication
  • FDA pentagastrinMedullary thyroid carcinoma · 2009-05-29 · Not FDA Approved for Orphan Indication
  • FDA Combretastatin A4 Phosphatefollicular thyroid cancer anaplastic thyroid cancer Thyroid cancer medullary · 2003-07-23 · Not FDA Approved for Orphan Indication
  • FDA ArcitumomabMedullary thyroid carcinoma · 1996-05-10 · Not FDA Approved for Orphan Indication
  • EMA Metastable technetium 99 [99mTc] demogastrin 2Diagnosis of medullary thyroid carcinoma · 28/08/2006 · PositiveEMA designation
  • EMA Cyclopropane-1,1-dicarboxylic acid [4-(6,7-dimethoxy-quinolin-4-yloxy)-phenyl]-amide (4-fluoro-phenyl)-amide, (L)-malate salt (cabozantinib)Treatment of medullary thyroid carcinoma · 06/02/2009 · PositiveEMA designation
  • EMA 6-(2-hydroxy-2-methylpropoxy)-4-(6-(6-((6-methoxypyridin-3-yl)methyl)-3,6-diazabicyclo[3.1.1]heptan-3-yl)pyridin-3-yl)pyrazolo[1,5-a]pyridine-3-carbonitrileTreatment of medullary thyroid carcinoma · 26/10/2018 · WithdrawnEMA designation
  • EMA vandetanibTreatment of medullary thyroid carcinoma · 24/01/2006 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

52

Drugs / clinical candidates · MONDO_0015277

CTD chemicals (MyDisease.info)

1 associated chemical · 50 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Resveratrol · therapeutic

Pathways: Endocytosis; Pathways in cancer; Thyroid cancer; Central carbon metabolism in cancer; IRS-mediated signalling; SOS-mediated signalling; Developmental Biology; Cytokine Signaling in Immune system

MyDisease.info · MONDO:0015277

Literature

Is anyone studying this?

28,627

28,627 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

28,627 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

15,039 in the last 10 years · medium confidence · 97.9th percentile (publications denominator)

Phrase hits: 28,627 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,315

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Elisei R5 papers · 2026

    Department of Clinical and Experimental Medicine, Endocrinology Unit, University of Pisa, Pisa, Italy.

    Papers in Europe PMC
  2. 02
    Giovanella L5 papers · 2026

    Department of Nuclear Medicine, University Hospital of Zürich, Zürich, Switzerland.

    Papers in Europe PMC
  3. 03
    Matrone A5 papers · 2026

    Department of Clinical and Experimental Medicine, Endocrinology Unit, University of Pisa, Pisa, Italy.

    Papers in Europe PMC
  4. 04
    Chen J4 papers · 2026

    Department of General Medicine, Shazi Health Center, Liuzhou, Guangxi Zhuang Autonomous Region, China.

    Papers in Europe PMC
  5. 05
    Gambale C4 papers · 2026

    Department of Clinical and Experimental Medicine, Unit of Endocrinology, University-Hospital of Pisa, Pisa, Italy.

    Papers in Europe PMC
  6. 06
    Prete A4 papers · 2026

    Department of Clinical and Experimental Medicine, Unit of Endocrinology, University-Hospital of Pisa, Pisa, Italy.

    Papers in Europe PMC
  7. 07
    Torregrossa L4 papers · 2026

    Department of Surgical, Medical and Molecular Pathology, Pathology Unit, University of Pisa, Pisa, Italy.

    Papers in Europe PMC
  8. 08
    Ugolini C4 papers · 2026

    Department of Surgical, Medical and Molecular Pathology, Pathology Unit, University of Pisa, Pisa, Italy.

    Papers in Europe PMC
  9. 09
    Zhang Y4 papers · 2026

    Department of Ultrasound, The First Affiliated Hospital of Hunan Normal University (Hunan Provincial People's Hospital), Changsha, China.

    Papers in Europe PMC
  10. 10
    Agarwal S3 papers · 2026

    Department of Pathology, All India Institute of Medical Sciences, New Delhi, India. Electronic address: drshipra0902@gmail.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

103

interventional trials for this specific condition

103 interventional trials matched this specific condition name; 16 currently recruiting in our sample.

Data as of 9 September 2026

103 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.6th percentile).

medium confidence · 98.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

103 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

30 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 56 · after dedupe 56 · already on CT.gov 0 · kept 1 · parent 0 · uncertain 20 · dropped 35 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

Uncertain / not reviewed (20)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Medullary thyroid carcinoma — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Medullary thyroid carcinoma" OR "C cell carcinoma" OR "carcinoma of parafollicular cell" OR "carcinoma, C-cell, malignant" OR "medullary carcinoma" OR "medullary carcinoma of the thyroid" OR "medullary carcinoma of the thyroid gland" OR "medullary carcinoma of thyroid" OR "medullary carcinoma of thyroid gland" OR "medullary thyroid cancer" OR "medullary thyroid gland carcinoma" OR "parafollicular cell carcinoma" OR "thyroid gland medullary cancer" OR "thyroid gland medullary carcinoma" OR "thyroid gland neuroendocrine carcinoma" OR "thyroid medullary carcinoma"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Medullary thyroid carcinoma" OR "C cell carcinoma" OR "carcinoma of parafollicular cell" OR "carcinoma of the parafollicular cell" OR "carcinoma, C-cell, malignant" OR "medullary carcinoma" OR "medullary carcinoma of the thyroid" OR "medullary carcinoma of thyroid" OR "medullary carcinoma of the thyroid gland" OR "medullary carcinoma of thyroid gland" OR "medullary thyroid cancer" OR "medullary thyroid gland carcinoma" OR "parafollicular cell carcinoma" OR "thyroid gland medullary cancer" OR "thyroid gland medullary carcinoma" OR "thyroid gland neuroendocrine carcinoma" OR "thyroid medullary carcinoma"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 103 interventional · 30 observational · 6 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MTC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T02:29:21.422Z