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ORPHA:313850

Infantile cerebellar-retinal degeneration

low confidenceDisorder

Publications

4,662

Trials

0

Interventional, condition-specific

Researchers

484

Distinct authors in sample

Gene link

ACO2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurometabolic disease characterized by onset truncal /, athetosis, generalized and ophthalmologic abnormalities notably optic atrophy and retinal degeneration (strabismus, nystagmus, abnormal eye movements, and abnormal pursuit can also be present). Additional clinical features may include cerebral changes (thinning of the corpus callosum, dysmyelination, and frontal and temporal cortical atrophy), severely delayed global and psychomotor development with profound , , muscle atrophy and hyperreflexia. Most patients are not able to walk. Some patients may have milder and variable including mild , and behavioral abnormalities. Short stature, moderate to severe sensorineural hearing loss, facial features (including prominent forehead, downslanting palpebral fissures, droopy eyelids, bifid uvula, submucous cleft palate) are also reported in some patients.

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 (1)

infantile cerebellar-retinal degeneration

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — ACO2

  2. LiteraturePresent

    4,662 matched papers (3,464 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Bilateral tonic-clonic seizure; Strabismus; Severe intellectual disability) 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 trialPartial

    None under the specific name; 57 for broader category retinal degeneration

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 (ACO2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

23

Associated phenotypes · MONDO:0013802

  • Bilateral tonic-clonic seizure
  • Strabismus
  • Severe intellectual disability
  • Failure to thrive
  • Nystagmus

Showing 5 of 23 — 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 2026-07-27

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?

4,662

4,662 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.

4,662 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).

3,464 in the last 10 years · low confidence

Phrase hits: 52 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

484

Distinct author names in 52 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
    Spiegel R3 papers · 2019

    Department of Pediatrics A, Ha'Emek Medical Center, Afula, Israel.

    Papers in Europe PMC
  2. 02
    Abela L2 papers · 2019

    Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.

    Papers in Europe PMC
  3. 03
    Amati-Bonneau P2 papers · 2021

    Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.

    Papers in Europe PMC
  4. 04
    Bhoj E2 papers · 2021

    Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.

    Papers in Europe PMC
  5. 05
    Bonneau D2 papers · 2021

    Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.

    Papers in Europe PMC
  6. 06
    Bris C2 papers · 2021

    Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.

    Papers in Europe PMC
  7. 07
    Charif M2 papers · 2021

    Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.

    Papers in Europe PMC
  8. 08
    Desquiret-Dumas V2 papers · 2021

    Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.

    Papers in Europe PMC
  9. 09
    Ferré M2 papers · 2021

    Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France. marc.ferre@univ-angers.fr.

    Papers in Europe PMC
  10. 10
    Gohier P2 papers · 2021

    Département d'Ophtalmologie, Centre Hospitalier Universitaire d'Angers, Angers, France.

    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). 57 trials are registered for retinal degeneration, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 9 September 2026 · last trial check 9 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.

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

Broader category: retinal degeneration

57

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 2026-07-27

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 Infantile cerebellar-retinal degeneration — 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.

("Infantile cerebellar-retinal degeneration") OR ("ACO2" OR "ACO2 syndrome" OR "ACO2-related")

Run this search on Europe PMC

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

"Infantile cerebellar-retinal degeneration"

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

Parent-category trials query:

"retinal degeneration"

Query health: ok — strategies attempted: phrase; 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 (4662) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T01:40:13.553Z