ORPHA:95433
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Also known as: Autosomal recessive spinocerebellar ataxia type 3 · Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome · SCABD · SCAR3
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
213
74.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,315
Distinct authors in sample
Gene link
PEX6
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndromic cerebellar characterized by the association of early-onset cerebellar with hearing loss and blindness. Patients may also present demyelinating peripheral motor . Cerebral MRI shows alterations of the cerebellar white matter without cerebellar 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:0010061
- MONDO:0013931
- MeSH:C537309
- OMIM:271250
- OMIM:614863
- UMLS:C3553937
- NCIT:C155755
Additional Mondo synonyms (8)
PBD4B · autosomal recessive cerebellar ataxia-blindness-deafness syndrome · autosomal recessive spinocerebellar ataxia type 3 · autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome · peroxisome biogenesis disorder 4B · peroxisome biogenesis disorder type 4B · spinocerebellar ataxia autosomal recessive 3 · spinocerebellar ataxia, autosomal recessive 3
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
Definitive — PEX6
- LiteraturePresent
213 matched papers (153 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 (PEX6).
GenCC classification: Definitive.
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?
213
213 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.
213 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).
153 in the last 10 years · medium confidence · 74.3th percentile (publications denominator)
Phrase hits: 213 · MeSH hits: 0
Who's working on it?
1,315
Distinct author names in 200 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.
- 01Ravussin E7 papers · 2023
Pennington Biomedical Research Center, Louisiana State University System, Baton Rouge, LA eric.ravussin@pbrc.edu.
Papers in Europe PMC - 02
- 03Mauriège P5 papers · 2026
Department of Kinesiology, Faculty of Medicine, Centre de recherche de l'Institut universitaire de cardiologie et de pneumologie de Québec, Laval University, PEPS, Room 0290C, Québec, G1V 0A6, QC, Canada. pascale.mauriege@kin.ulaval.ca.
Papers in Europe PMC - 04Beyl RA4 papers · 2021
Pennington Biomedical Research Center, Louisiana State University System, Baton Rouge, LA.
Papers in Europe PMC - 05
- 06Fusco I4 papers · 2026
Clinical Research and Practice, El.En. Group, Florence, Italy.
Papers in Europe PMC - 07Joanisse DR4 papers · 2024
Department of Kinesiology, Faculty of Medicine, Centre de recherche de l'Institut universitaire de cardiologie et de pneumologie de Québec, Laval University, PEPS, Room 0290C, Québec, G1V 0A6, QC, Canada.
Papers in Europe PMC - 08Machesky LM4 papers · 2012Papers in Europe PMC
- 09Tchernof A4 papers · 2026
Centre de recherche de l'institut Universitaire de cardiologie et pneumologie de Québec (CRIUCPQ), Université Laval, Québec, Canada.
Papers in Europe PMC - 10Timmann D4 papers · 2025
Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
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.
medium 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.
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.
"Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" OR "Autosomal recessive spinocerebellar ataxia type 3" OR "Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" OR "SCABD" OR "SCAR3" OR "PBD4B" OR "autosomal recessive cerebellar ataxia-blindness-deafness syndrome" OR "peroxisome biogenesis disorder 4B" OR "peroxisome biogenesis disorder type 4B" OR "spinocerebellar ataxia autosomal recessive 3" OR "spinocerebellar ataxia, autosomal recessive 3"
MeSH descriptor terms unioned into the query: Spinocerebellar ataxia, autosomal recessive 10
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" OR "Autosomal recessive spinocerebellar ataxia type 3" OR "Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" OR "SCABD" OR "SCAR3" OR "PBD4B" OR "autosomal recessive cerebellar ataxia-blindness-deafness syndrome" OR "peroxisome biogenesis disorder 4B" OR "peroxisome biogenesis disorder type 4B" OR "spinocerebellar ataxia autosomal recessive 3" OR "spinocerebellar ataxia, autosomal recessive 3" OR "Spinocerebellar ataxia, autosomal recessive 10" OR "PEX6"
Recall-expansion terms: PEX6
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 (213) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T04:43:09.065Z