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ORPHA:95434

Autosomal recessive cerebellar ataxia-movement disorder syndrome

low confidenceDisorder

Also known as: SCAR4 · SCASI

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

796

Trials

0

Interventional, condition-specific

Researchers

1,123

Distinct authors in sample

Gene link

VPS13D

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare characterized by a cerebellar associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with gait, trunk and limb with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.

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.

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — VPS13D

  2. LiteraturePresent

    796 matched papers (690 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Pes cavus; Unsteady gait; Dyslexia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 2 for broader category autosomal recessive cerebellar ataxia

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 (VPS13D).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

49

Associated phenotypes · MONDO:0011811

  • Pes cavus
  • Unsteady gait
  • Dyslexia
  • Impaired proprioception
  • Myoclonus

Showing 5 of 49 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

796

796 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.

796 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).

690 in the last 10 years · low confidence

Phrase hits: 176 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,123

Distinct author names in 176 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
    Leigh RJ6 papers · 2013
    Papers in Europe PMC
  2. 02
    Zhang Y5 papers · 2025

    MOE Key Laboratory of Bioinformatics, Center for Plant Biology, Center for Synthetic and Systems Biology and Tsinghua-Peking Joint Center for Life Sciences, School of Life Sciences, Tsinghua University, Beijing, 100084, China.

    Papers in Europe PMC
  3. 03
    Baehrecke EH4 papers · 2025

    Department of Molecular, Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, MA.

    Papers in Europe PMC
  4. 04
    Pavan FR4 papers · 2024

    Tuberculosis Research Laboratory, School of Pharmaceutical Science, Sao Paulo State University (UNESP), Araraquara, 14800-903, Brazil.

    Papers in Europe PMC
  5. 05
    Serra A4 papers · 2013

    Veterans Affairs Medical Center, Case Western Reserve University, Cleveland, OH, USA.

    Papers in Europe PMC
  6. 06
    Wang Y4 papers · 2026

    Guangdong Engineering Research Center for Translation of Medical 3D Printing Application, Guangdong Provincial Key Laboratory of Medical Biomechanics, National Key Discipline of Human Anatomy, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.

    Papers in Europe PMC
  7. 07
    Alkema MJ3 papers · 2025

    Department of Neurobiology, University of Massachusetts Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.

    Papers in Europe PMC
  8. 08
    Batista AA3 papers · 2018

    Departamento de Química, Universidade Federal de São Carlos, São Carlos, São Paulo 13565-905, Brazil.

    Papers in Europe PMC
  9. 09
    Chorilli M3 papers · 2024

    School of Pharmaceutical Science, Sao Paulo State University (UNESP), Araraquara, 14800-903, Brazil.

    Papers in Europe PMC
  10. 10
    Inoue M3 papers · 2024

    Department of Gastroenterology, Japanese Red Cross Okayama Hospital, Japan.

    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). 2 trials are registered for autosomal recessive cerebellar ataxia, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

2 interventional trials matched autosomal recessive cerebellar ataxia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: autosomal recessive cerebellar ataxia

2

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-30

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).

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 Autosomal recessive cerebellar ataxia-movement disorder syndrome — 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.

("Autosomal recessive cerebellar ataxia-movement disorder syndrome" OR "SCAR4" OR "SCASI") OR (MESH:"Spinocerebellar ataxia, autosomal recessive 4") OR ("VPS13D" OR "VPS13D syndrome" OR "VPS13D-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spinocerebellar ataxia, autosomal recessive 4

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

"Autosomal recessive cerebellar ataxia-movement disorder syndrome" OR "SCAR4" OR "SCASI" OR "Spinocerebellar ataxia, autosomal recessive 4"

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

Parent-category trials query:

"autosomal recessive cerebellar ataxia"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

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
  • Publication count (796) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T04:43:22.652Z