ORPHA:284324
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Also known as: Autosomal recessive spinocerebellar ataxia type 7 · SCAR7
Publications
112
63.3th percentile
Trials
0
Interventional, condition-specific
Researchers
928
Distinct authors in sample
Gene link
TPP1
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012235
- MeSH:C563753
- OMIM:609270
- UMLS:C1836474
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.”
2/6 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.
- Gene identifiedPresent
Strong — TPP1
- LiteraturePresent
112 matched papers (83 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
112
112 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
112 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
83 in the last 10 years · high confidence · 63.3th percentile (publications denominator)
Phrase hits: 111 · MeSH hits: 1
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.
- 01Mole 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 - 02Gardner 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 - 03Guelbert N3 papers · 2021
Hospital de Niños de La Santísima Trinidad, Cordoba, Argentina.
Papers in Europe PMC - 04Pessoa A3 papers · 2024
Universidade Estadual do Ceará, Hospital Infantil Albert Sabin, Fortaleza CE, Brazil.
Papers in Europe PMC - 05Schulz A3 papers · 2021
Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 06Wang X3 papers · 2022
Operating Theater, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250012, P.R. China.
Papers in Europe PMC - 07Aung AK2 papers · 2024
Department of General Medicine, Alfred Hospital and Monash University, School of Public Health and Preventive Medicine, Australia.
Papers in Europe PMC - 08Batista AA2 papers · 2018
Department of Chemistry, Universidade Federal de São Carlos, São Carlos, Brazil.
Papers in Europe PMC - 09Beaudin M2 papers · 2019
Axe Neurosciences, CHU de Québec-Université Laval, Québec, QC, Canada.
Papers in Europe PMC - 10Berger 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "TPP1"
Recall-expansion terms: TPP1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; 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
Ingested 2026-07-27T12:03:04.031Z