ORPHA:85458
Hereditary cerebral amyloid angiopathy
Also known as: HCHWA · Hereditary cerebral hemorrhage with amyloidosis
Publications
2,432
Trials
16
Interventional, condition-specific
Researchers
1,043
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and cognitive decline eventually leading to dementia.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0005620
- MeSH:D016657
- UMLS:C1510489
- NCIT:C84625
Additional Mondo synonyms (3)
dutch hereditary cerebral amyloid angiopathy · hereditary cerebral haemorrhage with amyloidosis - Dutch type · hereditary cerebral hemorrhage with amyloidosis - Dutch 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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,432 matched papers (1,365 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 trialPresent
16 matched on ClinicalTrials.gov (6 recruiting in sample)
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?
2,432
2,432 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=5449) is 41.
2,432 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).
1,365 in the last 10 years · low confidence
Phrase hits: 1,939 · MeSH hits: 537
Who's working on it?
1,043
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.
- 01Greenberg SM32 papers · 2026
Department of Neurology, J.P. Kistler Stroke Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Papers in Europe PMC - 02Terwindt GM29 papers · 2026
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 03Wermer MJH27 papers · 2026
Neurology, Leiden University Medical Center (LUMC), Albinusdreef 2, 2300RC, Leiden, NL, the Netherlands.
Papers in Europe PMC - 04van Buchem MA25 papers · 2025
Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands.
Papers in Europe PMC - 05van Etten ES22 papers · 2026
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 06Rasing I20 papers · 2026
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 07Voigt S18 papers · 2025
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 08Koemans EA17 papers · 2025
Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
Papers in Europe PMC - 09van Rooden S17 papers · 2025
Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands. S.van_Rooden@lumc.nl
Papers in Europe PMC - 10van der Grond J16 papers · 2025
Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
16
interventional trials for this specific condition
16 interventional trials matched this specific condition name; 6 currently recruiting in our sample.
Data as of 27 July 2026
16 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.7th percentile).
low confidence · 93.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
16 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07026994·RECRUITING·Colchicine for the Prevention of Recurrence in Cerebral Amyloid Angiopathy RElated IntraCerebral Hemorrhage
Conditions: Cerebral Amyloid Angiopathy · Intracerebral Hemorrhage Lobar·Matched via MeSH
- NCT07250035·RECRUITING·Jiedu Huayu Oral Prescription in the Treatment of Intracranial Hemorrhage Associated With Cerebral Amyloid Angiopathy
Conditions: Cerebral Amyloid Angiopathy·Matched via MeSH
- NCT06714097·RECRUITING·Application of Digital Twins' Technology in Patients Who Had a Stroke, With Moyamoya Disease and With Cerebral Amyloid Angiopathy (CAA) During the Secondary Prevention Phase: A Proof of Concept Using a Randomized Control Trial (Clinical Study 6, STRATIF-AI Project)
Conditions: Stroke · Moyamoya Disease · Cerebral Amyloid Angiopathy·Matched via MeSH
- NCT06421532·ENROLLING BY INVITATION·Stimulating Amyloid Clearance in Cerebral Amyloid Angiopathy
Conditions: Cerebral Amyloid Angiopathy·Matched via MeSH
- NCT06393712·RECRUITING·A Phase 2 Trial of ALN-APP in Patients With Cerebral Amyloid Angiopathy
Conditions: Cerebral Amyloid Angiopathy·Matched via MeSH
- NCT05709314·RECRUITING·A Study of AMDX-2011P in Participants With CAA
Conditions: Cerebral Amyloid Angiopathy·Matched via MeSH
Observational and natural-history studies
20 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
- NCT06933212·RECRUITING·Effect of the Mediterranean Diet in Patients Affected by CADASIL and Cerebral Amyloid Angiopathy.
Conditions: Cerebral Amyloid Angiopathy · CAA - Cerebral Amyloid Angiopathy·Matched via MeSH
- NCT04204642·RECRUITING·SEarchiNg biomarkErs Cerebral Amyloid Angiopathy (SENECA)
Conditions: Cerebral Amyloid Angiopathy·Matched via MeSH
- NCT06864000·RECRUITING·Phenotypic and Molecular Characterisation of Cerebral Amyloid Angiopathy
Conditions: Cerebral Amyloid Aβ Angiopathy·Matched via MeSH
- NCT05734378·RECRUITING·Prognosis of Cerebral Small Vessel Disease
Conditions: Cerebral Amyloid Angiopathy · Small Vessel Cerebrovascular Disease · Cadasil · CAA - Cerebral Amyloid Angiopathy·Matched via MeSH
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.
"Hereditary cerebral amyloid angiopathy" OR "HCHWA" OR "Hereditary cerebral hemorrhage with amyloidosis" OR "dutch hereditary cerebral amyloid angiopathy" OR "hereditary cerebral haemorrhage with amyloidosis - Dutch type" OR "hereditary cerebral hemorrhage with amyloidosis - Dutch type"
MeSH descriptor terms unioned into the query: Cerebral Amyloid Angiopathy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary cerebral amyloid angiopathy" OR "HCHWA" OR "Hereditary cerebral hemorrhage with amyloidosis" OR "dutch hereditary cerebral amyloid angiopathy" OR "hereditary cerebral haemorrhage with amyloidosis - Dutch type" OR "hereditary cerebral hemorrhage with amyloidosis - Dutch type" OR "Cerebral Amyloid Angiopathy"
Interventional trials matched via: mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 16 interventional · 20 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- "Hereditary cerebral hemorrhage with amyloidosis" also appears on ORPHA:100008
- Publication count (2432) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:04:18.348Z