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ORPHA:439254

ITM2B amyloidosis

high confidenceDisorder

Also known as: Familial cerebral amyloid angiopathy · ITM2B-related amyloidosis · ITM2B-related cerebral amyloid angiopathy

Publications

88

46.9th percentile

Trials

0

Interventional, condition-specific

Researchers

479

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, neurodegenerative disease characterized by dementia and , widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

familial cerebral amyloid angiopathy

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.”

2/6 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

    88 matched papers (35 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 369 for broader category amyloidosis

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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

88

88 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

88 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

35 in the last 10 years · high confidence · 46.9th percentile (publications denominator)

Phrase hits: 88 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

479

Distinct author names in 88 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
    Frangione B12 papers · 2008

    New York University Medical Center, NY 10016.

    Papers in Europe PMC
  2. 02
    Ghiso J9 papers · 2009

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

    Papers in Europe PMC
  3. 03
    Rostagno A7 papers · 2009

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

    Papers in Europe PMC
  4. 04
    Plant G6 papers · 2008
    Papers in Europe PMC
  5. 05
    Lashley T5 papers · 2008

    Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK.

    Papers in Europe PMC
  6. 06
    Levy E5 papers · 2016

    Department of Psychiatry, New York University School of Medicine, and Nathan Kline Institute, Orangeburg 10962, USA. elevy@nki.rfmh.org

    Papers in Europe PMC
  7. 07
    Plant GT5 papers · 1999

    National Hospital for Nervous Diseases, Queen Square, London, UK.

    Papers in Europe PMC
  8. 08
    Revesz T5 papers · 2008

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

    Papers in Europe PMC
  9. 09
    Greenberg SM4 papers · 2024

    Universitat Autónoma de Barcelona, Spain; Department of Neurology, J. Philip Kistler Stroke Research Center, Massachusetts General Hospital, Boston, MA (A.M.A., K.S., S.M.G.).

    Papers in Europe PMC
  10. 10
    Révész T4 papers · 2001
    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. 5 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 369 trials are registered for amyloidosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

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

Broader category: amyloidosis

369

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

5 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"ITM2B amyloidosis" OR "Familial cerebral amyloid angiopathy" OR "ITM2B-related amyloidosis" OR "ITM2B-related cerebral amyloid angiopathy"

Run this search on Europe PMC

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

"ITM2B amyloidosis" OR "Familial cerebral amyloid angiopathy" OR "ITM2B-related amyloidosis" OR "ITM2B-related cerebral amyloid angiopathy" OR "hereditary amyloidosis"

Recall-expansion terms: hereditary amyloidosis

Study-type breakdown: 0 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"amyloidosis"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-27T16:18:19.874Z