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ORPHA:320406

Spastic paraplegia-optic atrophy-neuropathy syndrome

low confidenceDisorder

Also known as: SPOAN

Publications

619

Trials

0

Interventional, condition-specific

Researchers

746

Distinct authors in sample

Gene link

KLC2

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, complex type of spastic paraplegia characterized by early-onset spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and joint contractures and scoliosis.

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.

Additional Mondo synonyms (2)

SPOAN syndrome · spastic paraplegia-optic atrophy-neuropathy syndrome

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

    Strong — KLC2

  2. LiteraturePresent

    619 matched papers (405 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Distal amyotrophy; Pes cavus; Impaired vibration sensation in the lower limbs) 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 (KLC2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0012297

  • Distal amyotrophy
  • Pes cavus
  • Impaired vibration sensation in the lower limbs
  • Delayed gross motor development
  • Exaggerated startle response

Showing 5 of 40 — 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?

619

619 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.

619 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).

405 in the last 10 years · low confidence

Phrase hits: 120 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

746

Distinct author names in 120 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
    Kok F13 papers · 2023

    Departamento de Neurologia, Hospital das Clínicas, Universidade de São Paulo, São Paulo, SP, Brazil.

    Papers in Europe PMC
  2. 02
    Santos S12 papers · 2023

    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP Brazil.

    Papers in Europe PMC
  3. 03
    Zatz M10 papers · 2019

    Human Genome and Research Center (HUG-CELL), Instituto de Biociências, Universidade de São Paulo (USP), São Paulo, SP, Brazil.

    Papers in Europe PMC
  4. 04
    Macedo-Souza LI6 papers · 2015

    Department of Biology, Institute of Biological Sciences and Center for Study of Human Genome, University of São Paulo, Brazil.

    Papers in Europe PMC
  5. 05
    Stevanin G5 papers · 2021

    Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France. giovanni.stevanin@upmc.fr.

    Papers in Europe PMC
  6. 06
    Amorim S4 papers · 2015

    Department of Neurology, School of Medicine, University of Sao Paulo (USP), São Paulo, SP 01246-903, Brazil.

    Papers in Europe PMC
  7. 07
    Fosså SD4 papers · 1986
    Papers in Europe PMC
  8. 08
    Graciani Z4 papers · 2019

    Department of Neurology, University of São Paulo School of Medicine, São Paulo, SP, Brazil.

    Papers in Europe PMC
  9. 09
    Barsottini OGP3 papers · 2023

    Department of Neurology, Ataxia Unit Universidade Federal de São Paulo, São Paulo, Brazil.

    Papers in Europe PMC
  10. 10
    Bocchetta M3 papers · 2025

    Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London WC1N 3AR, UK.

    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 2026-07-30

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 Spastic paraplegia-optic atrophy-neuropathy 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.

("Spastic paraplegia-optic atrophy-neuropathy syndrome" OR "SPOAN" OR "SPOAN syndrome") OR (MESH:"Spastic Paraplegia, Optic Atrophy, and Neuropathy") OR ("KLC2" OR "KLC2 syndrome" OR "KLC2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic Paraplegia, Optic Atrophy, and Neuropathy

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

"Spastic paraplegia-optic atrophy-neuropathy syndrome" OR "SPOAN" OR "SPOAN syndrome" OR "Spastic Paraplegia, Optic Atrophy, and Neuropathy"

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

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

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

Ingested 2026-07-27T13:33:45.943Z