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ORPHA:275872

Frontotemporal dementia with motor neuron disease

low confidenceDisorder

Also known as: FTD-ALS · FTD-MND · Frontotemporal dementia with amyotrophic lateral sclerosis

Publications

2,987

Trials

0

Interventional, condition-specific

Researchers

1,606

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is , with death occurring 2-5 years after onset.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

FTDALS · frontotemporal dementia with ALS · frontotemporal dementia with amyotrophic lateral sclerosis

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,987 matched papers (2,200 in last 10 years) Source

  3. Phenotype characterisedPresent

    154 HPO annotations (e.g. Dysphagia; Parkinsonism; Hyporeflexia) Source

  4. Animal modelPresent

    34 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 trialPartial

    None under the specific name; 2065 for broader category dementia

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)

154

Associated phenotypes · MONDO:0017161

  • Dysphagia
  • Parkinsonism
  • Hyporeflexia
  • Babinski sign
  • Dysarthria

Showing 5 of 154 — open Monarch for the full list.

Animal models (Monarch / Alliance)

34

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,987

2,987 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.

2,987 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).

2,200 in the last 10 years · low confidence

Phrase hits: 2,987 · MeSH hits: 7

Open Europe PMC search

Who's working on it?

1,606

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Borroni B11 papers · 2025

    Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

    Papers in Europe PMC
  2. 02
    Dickson DW10 papers · 2026

    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.

    Papers in Europe PMC
  3. 03
    Piguet O9 papers · 2026

    The University of Sydney, School of Psychology and Brain & Mind Centre, Sydney, Australia.

    Papers in Europe PMC
  4. 04
    Seelaar H9 papers · 2025

    Department of Neurology, Alzheimer Center Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands.

    Papers in Europe PMC
  5. 05
    Gitler AD7 papers · 2026

    Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America.

    Papers in Europe PMC
  6. 06
    Hartikainen P7 papers · 2026

    Neuro Center - Neurology, Kuopio University Hospital, Kuopio, Finland.

    Papers in Europe PMC
  7. 07
    Krüger J7 papers · 2026

    Research Unit of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland.

    Papers in Europe PMC
  8. 08
    Petrucelli L7 papers · 2026

    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America.

    Papers in Europe PMC
  9. 09
    Rohrer JD7 papers · 2025

    Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.

    Papers in Europe PMC
  10. 10
    Solje E7 papers · 2026

    Institute of Clinical Medicine - Neurology, University of Eastern Finland, Kuopio, Finland eino.solje@uef.fi.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 2,065 trials are registered for dementia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

2,065 interventional trials matched dementia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: dementia

2,065

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

2 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 1 · 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).

Broader / parent-category hits (1)

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 Frontotemporal dementia with motor neuron disease — 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.

"Frontotemporal dementia with motor neuron disease" OR "FTD-ALS" OR "FTD-MND" OR "Frontotemporal dementia with amyotrophic lateral sclerosis" OR "FTDALS" OR "frontotemporal dementia with ALS"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Frontotemporal Dementia With Motor Neuron Disease

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

"Frontotemporal dementia with motor neuron disease" OR "FTD-ALS" OR "FTD-MND" OR "Frontotemporal dementia with amyotrophic lateral sclerosis" OR "FTDALS" OR "frontotemporal dementia with ALS"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"dementia"

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

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
  • Publication count (2987) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T01:40:00.854Z