ORPHA:475
Isolated Joubert syndrome
Also known as: CPD IV · Cerebelloparenchymal disorder IV · Classic Joubert syndrome · Joubert syndrome type A · Joubert-Boltshauser syndrome · Pure Joubert syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,947
Trials
1
Interventional, condition-specific
Researchers
1,290
Distinct authors in sample
Gene link
ARL13B, SLC30A7, SUFU
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, cerebellar characterized by of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, , , and delay in achieving motor milestones.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018772
- UMLS:C5979921
- NCIT:C74996
Additional Mondo synonyms (4)
Joubert syndrome · cerebelloparenchymal disorder IV · classic Joubert syndrome · pure Joubert syndrome
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ARL13B, SLC30A7, SUFU
- LiteraturePresent
3,947 matched papers (2,478 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 trialPresent
1 matched on ClinicalTrials.gov
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 (ARL13B, SLC30A7, SUFU).
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?
3,947
3,947 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=5449) is 41.
3,947 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).
2,478 in the last 10 years · low confidence
Phrase hits: 3,947 · MeSH hits: 0
Who's working on it?
1,290
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.
- 01Valente EM9 papers · 2026
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 02D'Abrusco F4 papers · 2025
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 03Mański Ł4 papers · 2026
Gdansk Medical Academy of Applied Sciences, 80-335 Gdansk, Poland.
Papers in Europe PMC - 04Moluszys A4 papers · 2026
Gdansk Medical Academy of Applied Sciences, 80-335 Gdansk, Poland.
Papers in Europe PMC - 05Serpieri V4 papers · 2026
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 06Wang Y4 papers · 2026
Department of Cell Biology, School of Life Sciences, Central South University, Changsha, 410013, China.
Papers in Europe PMC - 07Wierzba J4 papers · 2026
Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University Gdansk, 80-208 Gdansk, Poland .
Papers in Europe PMC - 08Zhang L4 papers · 2026
Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, People's Republic of China.
Papers in Europe PMC - 09Boltshauser E3 papers · 2024
Department of Pediatric Neurology (Emeritus), University Children's Hospital, Zurich, Switzerland.
Papers in Europe PMC - 10Cao Z3 papers · 2026
National Human Genetic Resources Center, National Research Institute for Family Planning, Beijing, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
Recruiting or not-yet-recruiting
- NCT01401998·RECRUITING·ARPKD Database Study
Conditions: Hepato/Renal Fibrocystic Disease · Autosomal Recessive Polycystic Kidney Disease · Joubert Syndrome · Bardet Biedl Syndrome·Matched via name phrase
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.
"Isolated Joubert syndrome" OR "CPD IV" OR "Cerebelloparenchymal disorder IV" OR "Classic Joubert syndrome" OR "Joubert syndrome type A" OR "Joubert-Boltshauser syndrome" OR "Pure Joubert syndrome" OR "Joubert syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated Joubert syndrome" OR "CPD IV" OR "Cerebelloparenchymal disorder IV" OR "Classic Joubert syndrome" OR "Joubert syndrome type A" OR "Joubert-Boltshauser syndrome" OR "Pure Joubert syndrome" OR "Joubert syndrome" OR "ARL13B" OR "SLC30A7" OR "SUFU"
Recall-expansion terms: ARL13B, SLC30A7, SUFU
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: 1 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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
- "Joubert syndrome" also appears on ORPHA:140874
- Publication count (3947) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T13:57:24.883Z