ORPHA:97345
ABri amyloidosis
Also known as: Familial dementia, British type
Publications
18
15.2th percentile
Trials
0
Interventional, condition-specific
Researchers
71
Distinct authors in sample
Gene link
ITM2B
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008306
- MeSH:C538208
- OMIM:176500
- UMLS:C5190835
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.”
2/6 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.
- Gene identifiedPresent
Strong — ITM2B
- LiteraturePresent
18 matched papers (3 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
18
18 papers have ever been indexed 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.
18 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).
3 in the last 10 years · medium confidence · 15.2th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 0
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.
- 01Ghiso 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 - 02Frangione B5 papers · 2006Papers in Europe PMC
- 03Plant G4 papers · 2006Papers in Europe PMC
- 04Plant GT4 papers · 1999Papers in Europe PMC
- 05Revesz 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 - 06Rostagno 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 - 07Lashley T3 papers · 2006Papers in Europe PMC
- 08Levy 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 - 09Baumann 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 - 10Holton J2 papers · 2006Papers 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.
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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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
- NCT07124377·RECRUITING·Phenotypic Manifestations of Hereditary ATTR Amyloidosis
Conditions: Hereditary Amyloidosis, Transthyretin-Related·Matched via recall expansion
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 2026-07-26This 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"
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" OR "ITM2B" OR "hereditary amyloidosis"
Recall-expansion terms: ITM2B, hereditary amyloidosis
Study-type breakdown: 0 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T05:12:07.838Z