ORPHA:1179
Benign paroxysmal tonic upgaze of childhood with ataxia
Also known as: Ouvrier-Billson syndrome
Publications
756
Trials
0
Interventional, condition-specific
Researchers
18
Distinct authors in sample
Gene link
DAGLA
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Benign paroxysmal tonic upgaze of childhood with is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
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:0008206
- MeSH:C566817
- OMIM:168885
- UMLS:C1868576
Additional Mondo synonyms (1)
neuroocular syndrome 2, paroxysmal type
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
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
Strong — DAGLA
- LiteraturePresent
756 matched papers (626 in last 10 years) Source
- Phenotype characterisedPresent
3 HPO annotations (e.g. Nystagmus; Episodic ataxia; Abnormality of eye movement) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (DAGLA).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
3
Associated phenotypes · MONDO:0008206
- Nystagmus
- Episodic ataxia
- Abnormality of eye movement
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 2026-07-29
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
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?
756
756 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.
756 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).
626 in the last 10 years · low confidence
Phrase hits: 4 · MeSH hits: 0
Who's working on it?
18
Distinct author names in 4 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.
- 01Campistol J1 paper · 1993
Neuropediatric Service, Hospital Infantil San Juan de Dios, Barcelona, Spain.
Papers in Europe PMC - 02Chen B1 paper · 2023
Department of Neurology, Xijing hospital, Fourth Military Medical University (Air Force Medical University), Xi'an, 710032, PR China.
Papers in Europe PMC - 03Chen Z1 paper · 2023
Department of Neurology, Xijing hospital, Fourth Military Medical University (Air Force Medical University), Xi'an, 710032, PR China.
Papers in Europe PMC - 04Eto Y1 paper · 2002Papers in Europe PMC
- 05Garaizar C1 paper · 1993Papers in Europe PMC
- 06Hamano S1 paper · 2002Papers in Europe PMC
- 07Hu G1 paper · 2023
Department of Neurology, Xijing hospital, Fourth Military Medical University (Air Force Medical University), Xi'an, 710032, PR China.
Papers in Europe PMC - 08Lispi ML1 paper · 2001
Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165 Rome, Italy.
Papers in Europe PMC - 09Liu Y1 paper · 2023
Department of Neurology, Xijing hospital, Fourth Military Medical University (Air Force Medical University), Xi'an, 710032, PR China. liuyhong@fmmu.edu.cn.
Papers in Europe PMC - 10Mochizuki M1 paper · 2002
Division of Neurology, Saitama Children's Medical Center, Iwatsuki, Saitama.
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).
Data as of 11 September 2026 · last trial check 11 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 2026-07-29
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 Benign paroxysmal tonic upgaze of childhood with ataxia — check Associations / patient organisations on that page.
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.
("Benign paroxysmal tonic upgaze of childhood with ataxia" OR "Benign paroxysmal tonic upgaze of the childhood with ataxia" OR "Ouvrier-Billson syndrome" OR "neuroocular syndrome 2, paroxysmal type") OR ("DAGLA" OR "DAGLA syndrome" OR "DAGLA-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Benign paroxysmal tonic upgaze of childhood with ataxia" OR "Benign paroxysmal tonic upgaze of the childhood with ataxia" OR "Ouvrier-Billson syndrome" OR "neuroocular syndrome 2, paroxysmal type"
Study-type breakdown: 0 interventional · 0 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
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 (756) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T16:35:35.796Z