ORPHA:2388
Choreoacanthocytosis
Also known as: ChAc · Chorea-acanthocytosis · Levine-Critchley syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
808
Trials
0
Interventional, condition-specific
Researchers
937
Distinct authors in sample
Gene link
VPS13A
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008695
- OMIM:200150
- UMLS:C0393576
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — VPS13A
- LiteraturePresent
808 matched papers (464 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?
Yes — we know a specific gene responsible (VPS13A).
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?
808
808 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.
808 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).
464 in the last 10 years · low confidence
Phrase hits: 808 · MeSH hits: 0
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.
- 01Peikert 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 - 02Danek A24 papers · 2026
Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.
Papers in Europe PMC - 03Hermann 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 - 04Walker 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 - 05Kaestner L12 papers · 2026
Experimental Physics, Saarland University, 66123 Saarbruecken, Germany.
Papers in Europe PMC - 06De 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 - 07Glaß 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 - 08Miltenberger-Miltenyi G7 papers · 2025
Department of Neurology, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
Papers in Europe PMC - 09Nakamura 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 - 10Masana 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 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.
low 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.
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.
"Choreoacanthocytosis" OR "Chorea-acanthocytosis" OR "Levine-Critchley syndrome" OR "VPS13A disease"
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" OR "VPS13A"
Recall-expansion terms: VPS13A
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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