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ORPHA:275864

Behavioral variant of frontotemporal dementia

high confidenceDisorder

Also known as: bv-FTD

Publications

1,137

86.6th percentile

Trials

4

Interventional, condition-specific

Researchers

1,358

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.

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.

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.”

4/6 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

    1,137 matched papers (820 in last 10 years) Source

  3. Phenotype characterisedPresent

    111 HPO annotations (e.g. Aphasia; Brain atrophy; Visual agnosia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov (1 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)

111

Associated phenotypes · MONDO:0017160

  • Aphasia
  • Brain atrophy
  • Visual agnosia
  • Anomic aphasia
  • Dementia

Showing 5 of 111 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0017160

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,137

1,137 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,137 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).

820 in the last 10 years · high confidence · 86.6th percentile (publications denominator)

Phrase hits: 1,137 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,358

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
    Miller BL11 papers · 2026

    Memory and Aging Center, University of California Memory and Aging Center, San Francisco, California, USA.

    Papers in Europe PMC
  2. 02
    Borroni B8 papers · 2026

    Department of Clinical and Experimental Sciences, , Viale Europa, 11 , ,

    Papers in Europe PMC
  3. 03
    Ducharme S8 papers · 2025

    McConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montreal, Quebec, QC, Canada.

    Papers in Europe PMC
  4. 04
    Galimberti D8 papers · 2025

    Neurodegenerative Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Otto M8 papers · 2025

    Department of Neurology, University Clinic, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.

    Papers in Europe PMC
  6. 06
    Seeley WW7 papers · 2026

    Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco.

    Papers in Europe PMC
  7. 07
    Gorno-Tempini ML6 papers · 2026

    Neurology, University of California Memory and Aging Center, San Francisco, California, USA.

    Papers in Europe PMC
  8. 08
    Pijnenburg YAL6 papers · 2025

    Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands.

    Papers in Europe PMC
  9. 09
    Rabinovici GD6 papers · 2026

    Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco.

    Papers in Europe PMC
  10. 10
    Rowe JB6 papers · 2025

    MRC Cognition and Brain Sciences Unit, University of Cambridge, Cambridge, United Kingdom; Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, University of Cambridge, United Kingdom. Electronic address: james.rowe@mrc-cbu.cam.ac.uk.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 98 trials are registered for frontotemporal dementia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 9 September 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

high confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: frontotemporal dementia

98

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

1 observational study matches 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 1 · 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

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

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 Behavioral variant of frontotemporal dementia — 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.

"Behavioral variant of frontotemporal dementia" OR "bv-FTD"

Run this search on Europe PMC

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

"Behavioral variant of frontotemporal dementia" OR "Behavioral variant of the frontotemporal dementia" OR "bv-FTD"

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: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"frontotemporal dementia"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T02:34:50.236Z