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ORPHA:1020

Early-onset autosomal dominant Alzheimer disease

high confidenceDisorder

Also known as: EOFAD · Early-onset familial autosomal dominant Alzheimer disease · Familial Alzheimer disease

Publications

1,163

79th percentile

Trials

1

Interventional, condition-specific

Researchers

1,041

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Early-onset Alzheimer disease (EOAD) is a dementia with reduction of cognitive functions. EOAD presents the same as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.

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 (1)

early-onset familial autosomal dominant Alzheimer disease

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

    1,163 matched papers (352 in last 10 years) Source

  3. Phenotype characterisedPresent

    85 HPO annotations (e.g. Agitation; Hallucinations; Seizure) Source

  4. Animal modelPresent

    21 genotype models (Danio rerio, 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

    1 matched on ClinicalTrials.gov

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)

85

Associated phenotypes · MONDO:0015140

  • Agitation
  • Hallucinations
  • Seizure
  • Confusion
  • Parkinsonism

Showing 5 of 85 — open Monarch for the full list.

Animal models (Monarch / Alliance)

21

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

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?

1,163

1,163 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.

1,163 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).

352 in the last 10 years · high confidence · 79th percentile (publications denominator)

Phrase hits: 1,163 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,041

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
    Lardelli M25 papers · 2025

    Centre for Molecular Pathology, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

    Papers in Europe PMC
  2. 02
    Newman M21 papers · 2022

    Centre for Molecular Pathology, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

    Papers in Europe PMC
  3. 03
    Barthelson K18 papers · 2025

    School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

    Papers in Europe PMC
  4. 04
    Pederson SM11 papers · 2024

    Bioinformatics Hub, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

    Papers in Europe PMC
  5. 05
    Tanzi RE9 papers · 2026

    Genetics and Aging Research Unit, Department of Neurology, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02129, USA. tanzi@helix.mgh.harvard.edu

    Papers in Europe PMC
  6. 06
    Hin N7 papers · 2024

    Department of Molecular and Biomedical Science, University of Adelaide, School of Biological Sciences, North Terrace, Adelaide, SA, 5005, Australia.

    Papers in Europe PMC
  7. 07
    Jayadev S7 papers · 2025

    Department of Neurology, University of Washington School of Medicine, Seattle, WA, 98195, USA.

    Papers in Europe PMC
  8. 08
    Dong Y6 papers · 2021

    Alzheimer's Disease Genetics Laboratory, School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

    Papers in Europe PMC
  9. 09
    Liu X6 papers · 2025

    Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

    Papers in Europe PMC
  10. 10
    Graff C5 papers · 2025

    Division of Neurogeriatrics, Center for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Solna, Sweden; Theme Inflammation and Aging, Clinic for Cognitive Disorders, Karolinska University Hospital, Stockholm, Sweden.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 1,493 trials are registered for Alzheimer disease, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: Alzheimer disease

1,493

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

3 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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 Early-onset autosomal dominant Alzheimer 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.

"Early-onset autosomal dominant Alzheimer disease" OR "EOFAD" OR "Early-onset familial autosomal dominant Alzheimer disease" OR "Familial Alzheimer disease"

Run this search on Europe PMC

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

"Early-onset autosomal dominant Alzheimer disease" OR "EOFAD" OR "Early-onset familial autosomal dominant Alzheimer disease" OR "Familial Alzheimer disease"

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: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"Alzheimer disease"

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 2026-07-26T16:13:17.936Z