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ORPHA:70595

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

low confidenceDisorder

Also known as: SANDO

Publications

8,330

Trials

0

Interventional, condition-specific

Researchers

1,516

Distinct authors in sample

Gene link

POLG

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare disease characterized by adult onset of the triad of sensory ataxic , dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include , , and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.

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 (8)

EPM5 · PME type 5 · PRICKLE2 progressive myoclonic epilepsy · epilepsy, progressive myoclonic, type 5 · mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) · progressive myoclonic epilepsy caused by mutation in PRICKLE2 · progressive myoclonus epilepsy type 5 · sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — POLG

  2. LiteraturePresent

    8,330 matched papers (4,971 in last 10 years) Source

  3. Phenotype characterisedPresent

    129 HPO annotations (e.g. Ophthalmoparesis; Nystagmus; Dysarthria) 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 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 (POLG).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

129

Associated phenotypes · MONDO:0011835

  • Ophthalmoparesis
  • Nystagmus
  • Dysarthria
  • Positive Romberg sign
  • Ragged-red muscle fibers

Showing 5 of 129 — 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?

8,330

8,330 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,330 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).

4,971 in the last 10 years · low confidence

Phrase hits: 3,449 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,516

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
    Sando S19 papers · 2026

    Department of Chemistry and Biotechnology, Graduate School of Engineering, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan.

    Papers in Europe PMC
  2. 02
    Sando MM18 papers · 2026

    African Academy for Public Health (AAPH), Dar es Salaam, Tanzania.

    Papers in Europe PMC
  3. 03
    Fawzi WW12 papers · 2026

    Department of Global Health and Population, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.

    Papers in Europe PMC
  4. 04
    Sando D12 papers · 2026

    School of Materials Science and Engineering, University of New South Wales, Sydney, NSW 2052, Australia.

    Papers in Europe PMC
  5. 05
    Sando E10 papers · 2026

    Department of General Internal Medicine and Clinical Infectious Diseases, Fukushima Medical University, Fukushima, Japan; Department of General Internal Medicine and Infectious Diseases, Kita-Fukushima Medical Centre, Fukushima, Japan. Electronic address: e-sando@fmu.ac.jp.

    Papers in Europe PMC
  6. 06
    Sando T10 papers · 2026

    School of Engineering, University of North Florida, Jacksonville, Florida.

    Papers in Europe PMC
  7. 07
    Shinde S10 papers · 2026

    Department of Global Health and Population, Harvard T.H. Chan School of Public Health, Boston, Massachusetts, USA.

    Papers in Europe PMC
  8. 08
    Fawzi W9 papers · 2026

    Department of Global Health and Population, Harvard T. H. Chan School of Public Health, Boston, Massachusetts, USA.

    Papers in Europe PMC
  9. 09
    Morimoto J9 papers · 2026

    Department of Chemistry and Biotechnology, Graduate School of Engineering, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan.

    Papers in Europe PMC
  10. 10
    Sando RC9 papers · 2026

    Department of Pharmacology, Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37240.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

Observational and natural-history studies

1 observational study matches 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 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis 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.

("Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" OR "SANDO" OR "PME type 5" OR "PRICKLE2 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic, type 5" OR "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)" OR "progressive myoclonic epilepsy caused by mutation in PRICKLE2" OR "progressive myoclonus epilepsy type 5" OR "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis") OR ("POLG" OR "POLG syndrome" OR "POLG-related")

Run this search on Europe PMC

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

"Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" OR "SANDO" OR "PME type 5" OR "PRICKLE2 progressive myoclonic epilepsy" OR "epilepsy, progressive myoclonic, type 5" OR "mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)" OR "progressive myoclonic epilepsy caused by mutation in PRICKLE2" OR "progressive myoclonus epilepsy type 5" OR "sensory ataxic neuropathy, dysarthria, and ophthalmoparesis"

Study-type breakdown: 0 interventional · 1 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: EPM5

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "PME type 5" also appears on ORPHA:402082
  • "progressive myoclonus epilepsy type 5" also appears on ORPHA:402082

Ingested 2026-07-27T01:38:01.105Z