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ORPHA:85458

Hereditary cerebral amyloid angiopathy

low confidenceDisorder

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

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,432 matched papers (1,365 in last 10 years) Source

  3. Phenotype characterisedPresent

    85 HPO annotations (e.g. Dementia; Global developmental delay; Stroke) Source

  4. Animal modelPresent

    21 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. 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)

85

Associated phenotypes · MONDO:0005620

  • Dementia
  • Global developmental delay
  • Stroke
  • Somatic sensory dysfunction
  • Atypical behavior

Showing 5 of 85 — open Monarch for the full list.

Animal models (Monarch / Alliance)

21

Model associations linked to this Mondo ID

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

3

Drugs / clinical candidates · MONDO_0005620

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

2,432 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).

1,365 in the last 10 years · low confidence

Phrase hits: 1,939 · MeSH hits: 537

Open Europe PMC search

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.

  1. 01
    Greenberg 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
  2. 02
    Terwindt GM29 papers · 2026

    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  3. 03
    Wermer MJH27 papers · 2026

    Neurology, Leiden University Medical Center (LUMC), Albinusdreef 2, 2300RC, Leiden, NL, the Netherlands.

    Papers in Europe PMC
  4. 04
    van Buchem MA25 papers · 2025

    Department of Radiology, Leiden University Medical Center, Leiden, the Netherlands.

    Papers in Europe PMC
  5. 05
    van Etten ES22 papers · 2026

    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  6. 06
    Rasing I20 papers · 2026

    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  7. 07
    Voigt S18 papers · 2025

    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  8. 08
    Koemans EA17 papers · 2025

    Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC
  9. 09
    van Rooden S17 papers · 2025

    Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands. S.van_Rooden@lumc.nl

    Papers in Europe PMC
  10. 10
    van 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 11 September 2026

16 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.2th percentile).

low confidence · 94.2th 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.

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

Open the complete matched search on ClinicalTrials.gov

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Hereditary cerebral amyloid angiopathy — 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.

"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"

Run this search on Europe PMC

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