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ORPHA:2388

Choreoacanthocytosis

low confidenceDisorder

Also known as: ChAc · Chorea-acanthocytosis · Levine-Critchley syndrome

Publications

1,391

Trials

0

Interventional, condition-specific

Researchers

937

Distinct authors in sample

Gene link

VPS13A

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like with neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

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 (5)

CHAC · Chac · VPS13A disease · chorea-acanthocytosis · choreoacanthocytosis

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

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — VPS13A

  2. LiteraturePresent

    1,391 matched papers (935 in last 10 years) Source

  3. Phenotype characterisedPresent

    122 HPO annotations (e.g. Involuntary movements; Seizure; Acanthocytosis) Source

  4. Animal modelPresent

    1 genotype model (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 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 (VPS13A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

122

Associated phenotypes · MONDO:0008695

  • Involuntary movements
  • Seizure
  • Acanthocytosis
  • Incoordination
  • Caudate atrophy

Showing 5 of 122 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,391

1,391 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.

1,391 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).

935 in the last 10 years · low confidence

Phrase hits: 808 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

937

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.

  1. 01
    Peikert K27 papers · 2026

    Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, 18051 Rostock, Germany.

    Papers in Europe PMC
  2. 02
    Danek A24 papers · 2026

    Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.

    Papers in Europe PMC
  3. 03
    Hermann A24 papers · 2026

    Division of Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, Dresden, Germany; Center for Regenerative Therapies Dresden (CRTD), Technische Universität Dresden, Dresden, Germany; German Center for Neurodegenerative Diseases (DZNE) Dresden, Dresden, Germany; Universitäts Centrum für seltene Erkrankungen, Technische Universität Dresden, Dresden, Germany. Electronic address: andreas.hermann@uniklinikum-dresden.de.

    Papers in Europe PMC
  4. 04
    Walker RH18 papers · 2026

    Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA; Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA. Electronic address: ruth.walker@mssm.edu.

    Papers in Europe PMC
  5. 05
    Kaestner L12 papers · 2026

    Experimental Physics, Saarland University, 66123 Saarbruecken, Germany.

    Papers in Europe PMC
  6. 06
    De Camilli P10 papers · 2026

    Department of Neuroscience, Howard Hughes Medical Institute, Program in Cellular Neuroscience, Neurodegeneration and Repair, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, USA; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA. Electronic address: pietro.decamilli@yale.edu.

    Papers in Europe PMC
  7. 07
    Glaß H9 papers · 2026

    Division of Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, Dresden, Germany; Center for Regenerative Therapies Dresden (CRTD), Technische Universität Dresden, Dresden, Germany.

    Papers in Europe PMC
  8. 08
    Miltenberger-Miltenyi G7 papers · 2025

    Department of Neurology, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.

    Papers in Europe PMC
  9. 09
    Nakamura M7 papers · 2026

    Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima, 890-8520, Japan. Electronic address: nakamu36@m.kufm.kagoshima-u.ac.jp.

    Papers in Europe PMC
  10. 10
    Masana M6 papers · 2026

    Department of Biomedical Sciences, Institute of Neurosciences, School of Medicine and Health Sciences, Universitat de Barcelona, E-08036 Barcelona, Spain.

    Papers 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Choreoacanthocytosis — 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.

("Choreoacanthocytosis" OR "Chorea-acanthocytosis" OR "Levine-Critchley syndrome" OR "VPS13A disease") OR ("VPS13A" OR "VPS13A syndrome" OR "VPS13A-related")

Run this search on Europe PMC

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

"Choreoacanthocytosis" OR "Chorea-acanthocytosis" OR "Levine-Critchley syndrome" OR "VPS13A disease"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ChAc

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T20:03:19.387Z