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ORPHA:370022

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

low confidenceDisorder

Also known as: Poretti-Boltshauser syndrome

Publications

2,596

Trials

0

Interventional, condition-specific

Researchers

707

Distinct authors in sample

Gene link

LAMA1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neuro-ophthalmological disease characterized by nonprogressive cerebellar , delayed motor and language development and , in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal and myopia). Cerebellar cysts, cerebellar and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

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)

ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts 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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — LAMA1

  2. LiteraturePresent

    2,596 matched papers (1,971 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Ataxia; Dilated fourth ventricle; Cerebellar cyst) 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 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 (LAMA1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0014419

  • Ataxia
  • Dilated fourth ventricle
  • Cerebellar cyst
  • Myopia
  • Abnormal brainstem morphology

Showing 5 of 40 — 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 2026-07-29

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?

2,596

2,596 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.

2,596 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).

1,971 in the last 10 years · low confidence

Phrase hits: 91 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

707

Distinct author names in 91 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
    Boltshauser E7 papers · 2023

    Department of Pediatric Neurology (emeritus), Children's University Hospital, Zürich, Switzerland.

    Papers in Europe PMC
  2. 02
    Valente EM6 papers · 2023

    Neurogenetics Lab, IRCCS Santa Lucia Foundation, Rome, Italy.

    Papers in Europe PMC
  3. 03
    Doherty D5 papers · 2022

    Department of Pediatrics, Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA, ddoher@uw.edu r.oegema@erasmusmc.nl.

    Papers in Europe PMC
  4. 04
    Dempsey JC4 papers · 2022

    Department of Pediatrics.

    Papers in Europe PMC
  5. 05
    Li Y4 papers · 2026

    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

    Papers in Europe PMC
  6. 06
    Poretti A4 papers · 2017

    Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University, Baltimore, Maryland, USA.

    Papers in Europe PMC
  7. 07
    Wang L4 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  8. 08
    Borgatti R3 papers · 2022

    Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

    Papers in Europe PMC
  9. 09
    Brockmann K3 papers · 2023

    Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University of Goettingen, Goettingen, Germany.

    Papers in Europe PMC
  10. 10
    Elmas M3 papers · 2021

    Department of Medical Genetics, Afyon Kocatepe University, School of Medicine, Afyon 03218, Turkey.

    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.

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 2026-07-30

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 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome — 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.

("Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome" OR "Poretti-Boltshauser syndrome" OR "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome") OR ("LAMA1" OR "LAMA1 syndrome" OR "LAMA1-related")

Run this search on Europe PMC

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

"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome" OR "Poretti-Boltshauser syndrome" OR "ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"

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 (2596) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T14:53:01.115Z