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ORPHA:94124

Spinocerebellar ataxia with axonal neuropathy type 1

low confidenceDisorder

Also known as: SCAN1

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

Publications

2,522

Trials

0

Interventional, condition-specific

Researchers

1,213

Distinct authors in sample

Gene link

TDP1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Spinocerebellar with axonal type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly cerebellar . Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral , stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include , mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

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 (3)

Spinocerebellar Ataxia with Axonal Neuropathy · spinocerebellar ataxia type 1 with axonal neuropathy · spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — TDP1

  2. LiteraturePresent

    2,522 matched papers (1,695 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Impaired distal proprioception; Steppage gait; Cerebellar atrophy) Source

  4. Animal modelPresent

    1 genotype model (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 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 (TDP1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

39

Associated phenotypes · MONDO:0011801

  • Impaired distal proprioception
  • Steppage gait
  • Cerebellar atrophy
  • Distal amyotrophy
  • Seizure

Showing 5 of 39 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

2,522

2,522 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.

2,522 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).

1,695 in the last 10 years · low confidence

Phrase hits: 946 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,213

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
    Lavrik OI10 papers · 2026

    Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.

    Papers in Europe PMC
  2. 02
    Dyrkheeva NS9 papers · 2026

    Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.

    Papers in Europe PMC
  3. 03
    El-Khamisy SF9 papers · 2021

    Department of Molecular Biology and Biotechnology, Firth Court, University of Sheffield, Sheffield S10 2TN, UK.

    Papers in Europe PMC
  4. 04
    Zakharenko AL9 papers · 2026

    Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.

    Papers in Europe PMC
  5. 05
    Pommier Y8 papers · 2020

    Developmental Therapeutics Branch and Laboratory of Molecular Pharmacology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Building 37, Room 5068, Bethesda, MD 20892-4255, USA.

    Papers in Europe PMC
  6. 06
    Boerkoel CF6 papers · 2018

    BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada. cboerkoel@gmail.com.

    Papers in Europe PMC
  7. 07
    Takashima H6 papers · 2024

    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

    Papers in Europe PMC
  8. 08
    Caldecott KW5 papers · 2020

    Department of Genome Dynamics, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague 4, 142 20, Czech Republic.

    Papers in Europe PMC
  9. 09
    Chernyshova IA5 papers · 2026

    Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.

    Papers in Europe PMC
  10. 10
    McKinnon PJ5 papers · 2017

    Department of Genetics and Tumour Cell Biology, St Jude Children's Research Hospital, 262 Danny Thomas Place, Memphis, Tennessee 38105, USA. peter.mckinnon@stjude.org

    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.

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 Spinocerebellar ataxia with axonal neuropathy type 1 — 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.

("Spinocerebellar ataxia with axonal neuropathy type 1" OR "SCAN1" OR "Spinocerebellar Ataxia with Axonal Neuropathy" OR "spinocerebellar ataxia type 1 with axonal neuropathy" OR "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1") OR (MESH:"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy") OR ("TDP1" OR "TDP1 syndrome" OR "TDP1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy

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

"Spinocerebellar ataxia with axonal neuropathy type 1" OR "SCAN1" OR "Spinocerebellar Ataxia with Axonal Neuropathy" OR "spinocerebellar ataxia type 1 with axonal neuropathy" OR "spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" OR "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy"

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

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 (2522) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T04:40:05.095Z