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ORPHA:97345

ABri amyloidosis

low confidenceSubtype of disorder

Also known as: Familial dementia, British type

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,351

Trials

0

Interventional, condition-specific

Researchers

71

Distinct authors in sample

Gene link

ITM2B

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, neurodegenerative disease characterized by cognitive impairment, spastic tetraparesis, and cerebellar resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

FBD · cerebral amyloid angiopathy, British type · cerebral amyloid angiopathy, ITM2B-related, type 1 · familial dementia, British type · presenile dementia with spastic ataxia

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.”

3/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — ITM2B

  2. LiteraturePresent

    1,351 matched papers (921 in last 10 years) Source

  3. Phenotype characterisedPresent

    7 HPO annotations (e.g. Hypertonia; Cerebral amyloid angiopathy; Progressive neurologic deterioration) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

Yes — we know a specific gene responsible (ITM2B).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

7

Associated phenotypes · MONDO:0008306

  • Hypertonia
  • Cerebral amyloid angiopathy
  • Progressive neurologic deterioration
  • Tremor
  • Rigidity

Showing 5 of 7 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

1,351

1,351 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.

1,351 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).

921 in the last 10 years · low confidence

Phrase hits: 18 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

71

Distinct author names in 18 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
    Ghiso J6 papers · 2006

    Department of Pathology, New York University School of Medicine, New York, NY 10016, USA. ghisoj01@popmail.med.nyu.edu

    Papers in Europe PMC
  2. 02
    Frangione B5 papers · 2006
    Papers in Europe PMC
  3. 03
    Plant G4 papers · 2006
    Papers in Europe PMC
  4. 04
    Plant GT4 papers · 1999
    Papers in Europe PMC
  5. 05
    Revesz T4 papers · 2006

    Queen Square Brain Bank, Department of Molecular Pathogenesis, University College London, UK. t.revesz@ion.ucl.ac.uk

    Papers in Europe PMC
  6. 06
    Rostagno A4 papers · 2006

    Department of Pathology, New York University School of Medicine, New York 10016, USA. rostaa02@popmail.med.nyu.edu

    Papers in Europe PMC
  7. 07
    Lashley T3 papers · 2006
    Papers in Europe PMC
  8. 08
    Levy E3 papers · 2016

    Departments of Psychiatry, New York University School of Medicine, USA; Biochemistry and Molecular Pharmacology, New York University School of Medicine, USA; Center for Dementia Research, Nathan S. Kline Institute, Orangeburg, NY 10962, USA. Electronic address: elevy@nki.rfmh.org.

    Papers in Europe PMC
  9. 09
    Baumann MH2 papers · 2000

    Institute of Biomedicine, Protein Chemistry Education and Research Unit, P.O. Box 8, FIN-00014 University of Helsinki, Finland. Marc.Baumann@helsinki.fi

    Papers in Europe PMC
  10. 10
    Holton J2 papers · 2006
    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 6 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-30

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).

Uncertain / not reviewed (5)

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 ABri amyloidosis — 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.

("ABri amyloidosis" OR "Familial dementia, British type" OR "cerebral amyloid angiopathy, British type" OR "cerebral amyloid angiopathy, ITM2B-related, type 1" OR "presenile dementia with spastic ataxia") OR (MESH:"[OBSOLETE] Dementia, familial British") OR ("ITM2B" OR "ITM2B syndrome" OR "ITM2B-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Dementia, familial British

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

"ABri amyloidosis" OR "Familial dementia, British type" OR "cerebral amyloid angiopathy, British type" OR "cerebral amyloid angiopathy, ITM2B-related, type 1" OR "presenile dementia with spastic ataxia" OR "[OBSOLETE] Dementia, familial British"

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

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FBD

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
  • Publication count (1351) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:12:07.838Z