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ORPHA:199354

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

high confidenceDisorder

Also known as: CARASIL · Maeda syndrome

Publications

705

90.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,236

Distinct authors in sample

Gene link

HTRA1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

CARASIL is a cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and cognitive disturbances leading to severe dementia.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — HTRA1

  2. LiteraturePresent

    705 matched papers (510 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 trialPresent

    1 matched on ClinicalTrials.gov

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 (HTRA1).

GenCC classification: Definitive.

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?

705

705 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.

705 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).

510 in the last 10 years · high confidence · 90.3th percentile (publications denominator)

Phrase hits: 705 · MeSH hits: 13

Open Europe PMC search

Who's working on it?

1,236

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
    Onodera O13 papers · 2025

    From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata, Japan. onodera@bri.niigata-u.ac.jp.

    Papers in Europe PMC
  2. 02
    Nozaki H11 papers · 2023

    From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata, Japan.

    Papers in Europe PMC
  3. 03
    Uemura M8 papers · 2025

    From the Department of Medical Technology, School of Health Sciences, Faculty of Medicine (H.N.), Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (T.K., A.Y., O.O.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (M. Nihonmatsu, Y. Saito, A.K., A.S., M.U., Y. Sekine, M. Nishizawa), Department of Regenerative and Transplant Medicine, Division of Orthopedic Surgery (N.E.), and Department of Molecular Genetics, Bioresource Science Branch, Brain Research Institute (R. Kuwano), Niigata University, Niigata City; Department of Neurology (I.M., T. Mizuno), Kyoto Prefectural University of Medicine; Department of Neurology (T.N.), Ichinomiya Municipal Hospital, Aichi; Department of Neurology (R. Koike), Nishi-Niigata Chuo National Hospital, Niigata; Department of Neurology (K.M.), Shiseikai-Daini Hospital, Tokyo; Department of Neurology (M.K.), Kanazawa Medical University, Ishikawa; Department of Neurology (S.I.), Chiba University; Department of Neurology (M.M.), Nantan General Hospital, Kyoto; Departments of Neurology (A.M.) and Advanced Diagnosis (S.M.), Nagoya Medical Center, Aichi; Department of Neurology (K.H.), Japanese Red Cross Akita Hospital; Department of Internal Medicine (T. Momotsu), Sado General Hospital, Niigata; and Institute for Medical Science of Aging (M.Y.), Aichi Medical University, Japan.

    Papers in Europe PMC
  4. 04
    Haffner C6 papers · 2023

    Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig Maximilians University, 81377 Munich, Germany; christof.haffner@med.uni-muenchen.de huber@biochem.mpg.de martin.dichgans@med.uni-muenchen.de.

    Papers in Europe PMC
  5. 05
    Kato T6 papers · 2025

    Department of Neurology, Clinical Neuroscience Branch, Niigata University Brain Research Institute.

    Papers in Europe PMC
  6. 06
    Ando S5 papers · 2025

    Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.

    Papers in Europe PMC
  7. 07
    Dichgans M5 papers · 2024

    Institute for Stroke and Dementia Research, Klinikum der Universität München, Ludwig Maximilians University, 81377 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany christof.haffner@med.uni-muenchen.de huber@biochem.mpg.de martin.dichgans@med.uni-muenchen.de.

    Papers in Europe PMC
  8. 08
    Mizuno T5 papers · 2024

    From the Department of Medical Technology, School of Health Sciences, Faculty of Medicine (H.N.), Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (T.K., A.Y., O.O.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (M. Nihonmatsu, Y. Saito, A.K., A.S., M.U., Y. Sekine, M. Nishizawa), Department of Regenerative and Transplant Medicine, Division of Orthopedic Surgery (N.E.), and Department of Molecular Genetics, Bioresource Science Branch, Brain Research Institute (R. Kuwano), Niigata University, Niigata City; Department of Neurology (I.M., T. Mizuno), Kyoto Prefectural University of Medicine; Department of Neurology (T.N.), Ichinomiya Municipal Hospital, Aichi; Department of Neurology (R. Koike), Nishi-Niigata Chuo National Hospital, Niigata; Department of Neurology (K.M.), Shiseikai-Daini Hospital, Tokyo; Department of Neurology (M.K.), Kanazawa Medical University, Ishikawa; Department of Neurology (S.I.), Chiba University; Department of Neurology (M.M.), Nantan General Hospital, Kyoto; Departments of Neurology (A.M.) and Advanced Diagnosis (S.M.), Nagoya Medical Center, Aichi; Department of Neurology (K.H.), Japanese Red Cross Akita Hospital; Department of Internal Medicine (T. Momotsu), Sado General Hospital, Niigata; and Institute for Medical Science of Aging (M.Y.), Aichi Medical University, Japan.

    Papers in Europe PMC
  9. 09
    Mizuta I5 papers · 2024

    From the Department of Medical Technology, School of Health Sciences, Faculty of Medicine (H.N.), Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (T.K., A.Y., O.O.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (M. Nihonmatsu, Y. Saito, A.K., A.S., M.U., Y. Sekine, M. Nishizawa), Department of Regenerative and Transplant Medicine, Division of Orthopedic Surgery (N.E.), and Department of Molecular Genetics, Bioresource Science Branch, Brain Research Institute (R. Kuwano), Niigata University, Niigata City; Department of Neurology (I.M., T. Mizuno), Kyoto Prefectural University of Medicine; Department of Neurology (T.N.), Ichinomiya Municipal Hospital, Aichi; Department of Neurology (R. Koike), Nishi-Niigata Chuo National Hospital, Niigata; Department of Neurology (K.M.), Shiseikai-Daini Hospital, Tokyo; Department of Neurology (M.K.), Kanazawa Medical University, Ishikawa; Department of Neurology (S.I.), Chiba University; Department of Neurology (M.M.), Nantan General Hospital, Kyoto; Departments of Neurology (A.M.) and Advanced Diagnosis (S.M.), Nagoya Medical Center, Aichi; Department of Neurology (K.H.), Japanese Red Cross Akita Hospital; Department of Internal Medicine (T. Momotsu), Sado General Hospital, Niigata; and Institute for Medical Science of Aging (M.Y.), Aichi Medical University, Japan.

    Papers in Europe PMC
  10. 10
    Nishizawa M5 papers · 2021

    From the Department of Medical Technology, School of Health Sciences Faculty of Medicine (H.N.), Department of Neurology, Clinical Neuroscience Branch, Brain Research Institute (M.N.), and Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute (O.O.), Niigata University, Niigata, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 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.

"Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy" OR "CARASIL" OR "Maeda syndrome" OR "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

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

"Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy" OR "CARASIL" OR "Maeda syndrome" OR "cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy" OR "HTRA1"

Recall-expansion terms: HTRA1

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 3 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

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 2026-07-27T09:15:07.297Z