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ORPHA:94147

Spinocerebellar ataxia type 7

medium confidenceDisorder

Also known as: Ataxia with pigmentary retinopathy · Cerebellar syndrome-pigmentary maculopathy syndrome · SCA7

Publications

1,776

87.5th percentile

Trials

4

Interventional, condition-specific

Researchers

1,197

Distinct authors in sample

Gene link

ATXN7

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

An cerebellar type II that is characterized by , motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to blindness.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (10)

ADCA2 · ADCAII · ATXN7 autosomal dominant cerebellar ataxia type II · ataxia with pigmentary retinopathy · autosomal dominant cerebellar ataxia type 2 · autosomal dominant cerebellar ataxia type II · autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7 · cerebellar syndrome-pigmentary maculopathy syndrome · spinocerebellar ataxia 7 · spinocerebellar ataxia 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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ATXN7

  2. LiteraturePresent

    1,776 matched papers (1,038 in last 10 years) Source

  3. Phenotype characterisedPresent

    52 HPO annotations (e.g. Orofacial dyskinesia; Babinski sign; Pigmentary retinopathy) Source

  4. Animal modelPresent

    28 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 trialPresent

    4 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (ATXN7).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

52

Associated phenotypes · MONDO:0016163

  • Orofacial dyskinesia
  • Babinski sign
  • Pigmentary retinopathy
  • Chorea
  • Progressive cerebellar ataxia

Showing 5 of 52 — open Monarch for the full list.

Animal models (Monarch / Alliance)

28

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

1

Drugs / clinical candidates · MONDO_0016163

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,776

1,776 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.

1,776 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).

1,038 in the last 10 years · medium confidence · 87.5th percentile (publications denominator)

Phrase hits: 914 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,197

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Magaña JJ13 papers · 2026

    Laboratory of Genomic Medicine, Department of Genetics, INR, Mexico City, Mexico.. Electronic address: maganasm@hotmail.com.

    Papers in Europe PMC
  2. 02
    La Spada AR11 papers · 2026

    Department of Pediatrics, University of California, San Diego, La Jolla, CA 92093, USA; Department Cellular & Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA; Department of Neurobiology, Duke University School of Medicine, Durham, NC 27710, USA; Department of Cell Biology, Duke University School of Medicine, Durham, NC 27710, USA; Duke Center for Neurodegeneration & Neurotherapeutics, Duke University School of Medicine, Durham, NC 27710, USA. Electronic address: al.laspada@duke.edu.

    Papers in Europe PMC
  3. 03
    Cisneros B10 papers · 2026

    Department of Genetics and Molecular Biology, Centro de Investigaciones Avanzados-Instituto Politécnico Nacional (CINVESTAV-IPN), Mexico City, Mexico.

    Papers in Europe PMC
  4. 04
    Fernandez-Ruiz J8 papers · 2021

    Posgrado de Neuroetologia, Universidad Veracruzana, Mexico City, Mexico.

    Papers in Europe PMC
  5. 05
    Hernández-Hernández O8 papers · 2026

    Laboratory of Genomic Medicine, Department of Genetics, INR, Mexico City, Mexico.

    Papers in Europe PMC
  6. 06
    Hernandez-Castillo CR6 papers · 2021

    Consejo Nacional de Ciencia y Tecnología - Cátedras - Instituto de Neuroetologia, Universidad Veracruzana, Xalapa, México.

    Papers in Europe PMC
  7. 07
    Lemos JA6 papers · 2026

    Department of Oral Biology, College of Dentistry, University of Florida, Gainesville, FL, USA.

    Papers in Europe PMC
  8. 08
    Trottier Y6 papers · 2026

    Institute of Genetics and Molecular and Cellular Biology (IGBMC), INSERM U1258, CNRS UMR7104, University of Strasbourg, 67404, Illkirch, France. Yvon.Trottier@igbmc.fr.

    Papers in Europe PMC
  9. 09
    Diaz R5 papers · 2021

    Departamento de Fisiologia, Facultad de Medicina, UNAM, Mexico City, Mexico.

    Papers in Europe PMC
  10. 10
    Galvez V5 papers · 2018

    Unidad Periferica de Neurociencias, Facultad de Medicina, UNAM/Instituto, Nacional de Neurologia y Neurocirugia 'Manuel Velasco Suarez', Mexico City, Mexico.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

2 observational studies match 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 type 7 — 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 type 7" OR "Ataxia with pigmentary retinopathy" OR "Cerebellar syndrome-pigmentary maculopathy syndrome" OR "ADCA2" OR "ADCAII" OR "ATXN7 autosomal dominant cerebellar ataxia type II" OR "autosomal dominant cerebellar ataxia type 2" OR "autosomal dominant cerebellar ataxia type II" OR "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7" OR "spinocerebellar ataxia 7") OR ("ATXN7" OR "ATXN7 syndrome" OR "ATXN7-related")

Run this search on Europe PMC

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

"Spinocerebellar ataxia type 7" OR "Ataxia with pigmentary retinopathy" OR "Cerebellar syndrome-pigmentary maculopathy syndrome" OR "ADCA2" OR "ADCAII" OR "ATXN7 autosomal dominant cerebellar ataxia type II" OR "autosomal dominant cerebellar ataxia type 2" OR "autosomal dominant cerebellar ataxia type II" OR "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7" OR "spinocerebellar ataxia 7"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SCA7

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T04:40:34.239Z