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ORPHA:101010

Autosomal spastic paraplegia type 30

low confidenceDisorder

Also known as: SPG30

Publications

2,644

Trials

0

Interventional, condition-specific

Researchers

1,915

Distinct authors in sample

Gene link

KIF1A

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, pure or complex form of spastic paraplegia characterized by either a pure spastic paraplegia , usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar and mild, distal, axonal .

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 (5)

KIF1A hereditary spastic paraplegia · autosomal spastic paraplegia type 30 · hereditary spastic paraplegia caused by mutation in KIF1A · hereditary spastic paraplegia type 30 · spastic paraplegia 30, autosomal dominant

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — KIF1A

  2. LiteraturePresent

    2,644 matched papers (1,769 in last 10 years) Source

  3. Phenotype characterisedPresent

    50 HPO annotations (e.g. Peripheral axonal neuropathy; Dysmetria; Lower limb muscle weakness) Source

  4. Animal modelPresent

    2 genotype models (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 trialPartial

    None under the specific name; 104 for broader category paraplegia

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 (KIF1A).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

50

Associated phenotypes · MONDO:0012476

  • Peripheral axonal neuropathy
  • Dysmetria
  • Lower limb muscle weakness
  • Lower limb spasticity
  • Ankle clonus

Showing 5 of 50 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

2,644

2,644 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.

2,644 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).

1,769 in the last 10 years · low confidence

Phrase hits: 166 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,915

Distinct author names in 167 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
    Berindan-Neagoe I12 papers · 2023

    Research Center for Functional Genomics, Biomedicine and Translational Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Papers in Europe PMC
  2. 02
    Stevanin G11 papers · 2021

    Sorbonne Université UMR S 1127, Paris, France.

    Papers in Europe PMC
  3. 03
    Burz C8 papers · 2023

    Department of Immunology and Allergology, Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Papers in Europe PMC
  4. 04
    Chelaru V8 papers · 2023

    Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Papers in Europe PMC
  5. 05
    Pralea I8 papers · 2023

    Research Center for Advanced Medicine MedFUTURE, Cluj-Napoca, Romania

    Papers in Europe PMC
  6. 06
    Ţigu A8 papers · 2023

    Research Center for Advanced Medicine MedFUTURE, Cluj-Napoca, Romania

    Papers in Europe PMC
  7. 07
    Toma V8 papers · 2023

    Research Center for Advanced Medicine MEDFUTURE, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, Romania

    Papers in Europe PMC
  8. 08
    Tomuleasa C8 papers · 2023

    Research Center for Advanced Medicine MEDFUTURE, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, Romania

    Papers in Europe PMC
  9. 09
    Vlase L8 papers · 2023

    Department of Pharmaceutical Technology and Biopharmacy, Faculty of Pharmacy, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Papers in Europe PMC
  10. 10
    Grama A7 papers · 2023

    Department of 2 Pediatric Clinic, Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    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). 104 trials are registered for paraplegia, 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.

104 interventional trials matched paraplegia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: paraplegia

104

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 spastic paraplegia type 30 — 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 spastic paraplegia type 30" OR "SPG30" OR "KIF1A hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in KIF1A" OR "hereditary spastic paraplegia type 30" OR "spastic paraplegia 30, autosomal dominant") OR (MESH:"Spastic Paraplegia 30, Autosomal Recessive") OR ("KIF1A" OR "KIF1A syndrome" OR "KIF1A-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic Paraplegia 30, Autosomal Recessive

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

"Autosomal spastic paraplegia type 30" OR "SPG30" OR "KIF1A hereditary spastic paraplegia" OR "hereditary spastic paraplegia caused by mutation in KIF1A" OR "hereditary spastic paraplegia type 30" OR "spastic paraplegia 30, autosomal dominant" OR "Spastic Paraplegia 30, Autosomal Recessive"

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

Parent-category trials query:

"paraplegia"

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 (2644) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:12:30.729Z