ORPHA:97346
ADan amyloidosis
Also known as: Familial dementia, Danish type
Publications
258
69.9th percentile
Trials
0
Interventional, condition-specific
Researchers
796
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, neurodegenerative disease characterized by cataracts, hearing loss, cerebellar , paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse and the presence of extremely thin and almost completely demyelinated cranial nerves.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007297
- MeSH:C538209
- OMIM:117300
- UMLS:C1861735
Additional Mondo synonyms (7)
FDD · HOOE · Heredopathia Ophthalmootoencephalica · cerebellar ataxia, cataract, deafness, and dementia Or psychosis · cerebral amyloid angiopathy, ITM2B-related, type 2 · familial Danish dementia · familial dementia, Danish type
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
258 matched papers (123 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?
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?
258
258 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.
258 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).
123 in the last 10 years · medium confidence · 69.9th percentile (publications denominator)
Phrase hits: 258 · MeSH hits: 6
Who's working on it?
796
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.
- 01D'Adamio L30 papers · 2025
Department of Pharmacology, Physiology & Neuroscience, New Jersey Medical School, Brain Health Institute, Jacqueline Krieger Klein Center in Alzheimer's Disease and Neurodegeneration Research, Rutgers, The State University of New Jersey, Newark, New Jersey, USA. Electronic address: luciano.dadamio@rutgers.edu.
Papers in Europe PMC - 02Ghiso J26 papers · 2024
Department of Pathology, New York University School of Medicine, New York, NY, USA. jorge.ghiso@nyumc.org.
Papers in Europe PMC - 03Lashley T23 papers · 2025
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London, UK.
Papers in Europe PMC - 04Vidal R22 papers · 2026
Department of Pathology, New York University School of Medicine, New York 10016, USA. vidalr01@popmail.med.nyu.edu
Papers in Europe PMC - 05Rostagno A21 papers · 2024
Department of Pathology, New York University School of Medicine, New York, NY, USA.
Papers in Europe PMC - 06Revesz T18 papers · 2024
Queen Square Brain Bank, Department of Molecular Pathogenesis, University College London, UK. t.revesz@ion.ucl.ac.uk
Papers in Europe PMC - 07DEMUTH HANS-ULRICH14 papers · 2012Papers in Europe PMC
- 08Frangione B14 papers · 2010Papers in Europe PMC
- 09HOFFMANN TORSTEN14 papers · 2012Papers in Europe PMC
- 10SCHILLING STEPHAN13 papers · 2011Papers 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.
"ADan amyloidosis" OR "Familial dementia, Danish type" OR "Heredopathia Ophthalmootoencephalica" OR "cerebellar ataxia, cataract, deafness, and dementia Or psychosis" OR "cerebral amyloid angiopathy, ITM2B-related, type 2" OR "familial Danish dementia"
MeSH descriptor terms unioned into the query: Dementia, familial Danish
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"ADan amyloidosis" OR "Familial dementia, Danish type" OR "Heredopathia Ophthalmootoencephalica" OR "cerebellar ataxia, cataract, deafness, and dementia Or psychosis" OR "cerebral amyloid angiopathy, ITM2B-related, type 2" OR "familial Danish dementia" OR "Dementia, familial Danish" 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.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FDD; HOOE
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T05:12:23.242Z