ORPHA:313850
Infantile cerebellar-retinal degeneration
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.
Is anyone studying this?
52
52 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=183) is 38.
52 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
46 in the last 10 years · high confidence · 54.4th percentile (publications denominator)
Is a treatment being tested?
12
trials for this specific condition
12 interventional trials matched this specific condition name; 4 currently recruiting in our sample. 55 trials are registered for retinal degeneration, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
55
trials for retinal degeneration, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
12 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 87.6th percentile).
high confidence · 87.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (ACO2).
GenCC classification: Definitive.
Who's working on it?
484
Distinct author names in 52 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.
- 01Spiegel R3 papers · 2019
Department of Pediatrics A, Ha'Emek Medical Center, Afula, Israel.
Papers in Europe PMC - 02Abela L2 papers · 2019
Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.
Papers in Europe PMC - 03Amati-Bonneau P2 papers · 2021
Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.
Papers in Europe PMC - 04Bhoj 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 - 05Bonneau D2 papers · 2021
Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.
Papers in Europe PMC - 06Bris C2 papers · 2021
Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.
Papers in Europe PMC - 07Charif M2 papers · 2021
Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.
Papers in Europe PMC - 08Desquiret-Dumas V2 papers · 2021
Unité Mixte de Recherche MITOVASC, CNRS 6015/INSERM 1083, Université d'Angers, Angers, France.
Papers in Europe PMC - 09Ferré 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 - 10Gohier P2 papers · 2021
Département d'Ophtalmologie, Centre Hospitalier Universitaire d'Angers, Angers, France.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
12 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05626920·Disulfiram for Treatment of Retinal Degeneration
- NCT07656753·Safety and Efficacy Study of PUMCH-E111 Injection in Subjects With RLBP1 Related Inherited Retinal Dystrophy
- NCT07082855·A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
- NCT05976139·Micropulsed Laser in Patients With Macular Oedema in Retinal Dystrophies
Observational and natural-history studies
4 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.
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 below but are not added to the query string.
"Infantile cerebellar-retinal degeneration"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Infantile cerebellar-retinal degeneration" OR "ACO2" OR "inherited retinal dystrophy"
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: 12 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:614559 UMLS:C3281192
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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