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ORPHA:284324

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

low confidenceDisorder

Also known as: Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Publications

4,288

Trials

0

Interventional, condition-specific

Researchers

928

Distinct authors in sample

Gene link

TPP1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, cerebellar disease characterized by slowly spinocerebellar developing during childhood, manifesting with gait and limb , postural tremor, dysarthria, sensory alterations (e.g. decreased vibration sense), eye movement anomalies (i.e. nystagmus, saccadic pursuit, oculomotor apraxia), upper and lower limb fasciculations, and hyperreflexia with Babinski signs. Brain imaging reveals cerebellar, pontine, vermian and medullar atrophy.

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)

autosomal recessive spinocerebellar ataxia type 7 · spinocerebellar ataxia, autosomal recessive type 7

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 — TPP1

  2. LiteraturePresent

    4,288 matched papers (2,835 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Hyperreflexia; Limb ataxia; Saccadic smooth pursuit interruptions) 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 (TPP1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

42

Associated phenotypes · MONDO:0012235

  • Hyperreflexia
  • Limb ataxia
  • Saccadic smooth pursuit interruptions
  • Dysarthria
  • Cerebellar atrophy

Showing 5 of 42 — 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?

4,288

4,288 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.

4,288 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).

2,835 in the last 10 years · low confidence

Phrase hits: 111 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

928

Distinct author names in 112 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
    Mole SE5 papers · 2021

    MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London, WC1E 6BT, UK; UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK. Electronic address: s.mole@ucl.ac.uk.

    Papers in Europe PMC
  2. 02
    Gardner E3 papers · 2021

    UCL MRC Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

    Papers in Europe PMC
  3. 03
    Guelbert N3 papers · 2021

    Hospital de Niños de La Santísima Trinidad, Cordoba, Argentina.

    Papers in Europe PMC
  4. 04
    Pessoa A3 papers · 2024

    Universidade Estadual do Ceará, Hospital Infantil Albert Sabin, Fortaleza CE, Brazil.

    Papers in Europe PMC
  5. 05
    Schulz A3 papers · 2021

    Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  6. 06
    Wang X3 papers · 2022

    Operating Theater, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, P.R. China.

    Papers in Europe PMC
  7. 07
    Aung AK2 papers · 2024

    Department of General Medicine, Alfred Hospital and Monash University, School of Public Health and Preventive Medicine, Australia.

    Papers in Europe PMC
  8. 08
    Batista AA2 papers · 2018

    Department of Chemistry, Universidade Federal de São Carlos, São Carlos, Brazil.

    Papers in Europe PMC
  9. 09
    Beaudin M2 papers · 2019

    Axe Neurosciences, CHU de Québec-Université Laval, Québec, QC, Canada.

    Papers in Europe PMC
  10. 10
    Berger RD2 papers · 2020

    Alliance for Cardiovascular Diagnostic and Treatment Innovation (E.S., A.P., K.N.A., S.Z., S.L.Z., H.T., R.D.B., J.C., N.A.T.), Johns Hopkins University, Baltimore, MD.

    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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia — 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.

("Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" OR "Autosomal recessive spinocerebellar ataxia type 7" OR "SCAR7" OR "spinocerebellar ataxia, autosomal recessive type 7") OR (MESH:"Spinocerebellar Ataxia, Autosomal Recessive 7") OR ("TPP1" OR "TPP1 syndrome" OR "TPP1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spinocerebellar Ataxia, Autosomal Recessive 7

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

"Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" OR "Autosomal recessive spinocerebellar ataxia type 7" OR "SCAR7" OR "spinocerebellar ataxia, autosomal recessive type 7" OR "Spinocerebellar Ataxia, Autosomal Recessive 7"

Study-type breakdown: 0 interventional · 1 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 (4288) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:03:04.031Z