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ORPHA:1496

Corpus callosum agenesis-neuronopathy syndrome

low confidenceDisorder

Also known as: Andermann syndrome · Charlevoix disease

Publications

740

Trials

0

Interventional, condition-specific

Researchers

1,104

Distinct authors in sample

Gene link

SLC12A6

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodegenerative disorder characterized by severe sensorimotor beginning in infancy with resulting , areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an trait.

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 (4)

agenesis of the corpus callosum with peripheral neuropathy · corpus callosum agenesis-neuronopathy syndrome · hereditary motor and sensory neuropathy with agenesis of the corpus callosum · peripheral neuropathy associated with agenesis of the corpus callosum

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — SLC12A6

  2. LiteraturePresent

    740 matched papers (441 in last 10 years) Source

  3. Phenotype characterisedPresent

    68 HPO annotations (e.g. Turricephaly; Nystagmus; Intellectual disability) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  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 (SLC12A6).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

68

Associated phenotypes · MONDO:0000902

  • Turricephaly
  • Nystagmus
  • Intellectual disability
  • Global developmental delay
  • Agenesis of corpus callosum

Showing 5 of 68 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

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?

740

740 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.

740 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).

441 in the last 10 years · low confidence

Phrase hits: 191 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,104

Distinct author names in 191 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
    Delpire E16 papers · 2023

    Department of Anesthesiology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA. eric.delpire@vanderbilt.edu carsten.bonnemann@nih.gov.

    Papers in Europe PMC
  2. 02
    Rouleau GA13 papers · 2017

    Montreal Neurological Institute and Hospital, Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada.

    Papers in Europe PMC
  3. 03
    Kahle KT8 papers · 2019

    Department of Neurosurgery, Harvard Medical School, Boston, MA 02114, USA. kkahle@genetics.med.harvard.edu

    Papers in Europe PMC
  4. 04
    Bouchard JP7 papers · 2017

    Université Laval, Québec, Canada; CHU de Québec, Hôpital de l'Enfant-Jésus, Département des sciences neurologiques, Québec, Québec, Canada.

    Papers in Europe PMC
  5. 05
    Mathieu J7 papers · 2025

    Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Hôpital de Chicoutimi, Chicoutimi, Québec, Canada.

    Papers in Europe PMC
  6. 06
    Gamba G6 papers · 2022

    Department of Nephrology and Mineral Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

    Papers in Europe PMC
  7. 07
    Dupré N5 papers · 2012

    Centre for Research in Neurosciences and the Department of Neurology and Neurosurgery, McGill University, Montreal.

    Papers in Europe PMC
  8. 08
    Salin-Cantegrel A5 papers · 2013

    Centre of Excellence in Neuroscience of University of Montreal, Montréal, Québec, Canada.

    Papers in Europe PMC
  9. 09
    Shekarabi M5 papers · 2013

    Centre of Excellence in Neuromics, CHUM Research Center and Department of Medicine, University of Montreal, Notre-Dame Hospital, 1560 Sherbrooke East, De-Seve Pavillion, room Y-3616-2, Montréal, QC, H2L 4M1, Canada.

    Papers in Europe PMC
  10. 10
    Zhang J5 papers · 2023

    Institute of Biomedical and Clinical Sciences, Medical School, College of Medicine and Health, University of Exeter, Hatherly Laboratories, Exeter, EX4 4PS, UK.

    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 2026-07-29

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 Corpus callosum agenesis-neuronopathy 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.

("Corpus callosum agenesis-neuronopathy syndrome" OR "Andermann syndrome" OR "Charlevoix disease" OR "agenesis of the corpus callosum with peripheral neuropathy" OR "agenesis of corpus callosum with peripheral neuropathy" OR "hereditary motor and sensory neuropathy with agenesis of the corpus callosum" OR "hereditary motor and sensory neuropathy with agenesis of corpus callosum" OR "peripheral neuropathy associated with agenesis of the corpus callosum" OR "peripheral neuropathy associated with agenesis of corpus callosum") OR ("SLC12A6" OR "SLC12A6 syndrome" OR "SLC12A6-related")

Run this search on Europe PMC

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

"Corpus callosum agenesis-neuronopathy syndrome" OR "Andermann syndrome" OR "Charlevoix disease" OR "agenesis of the corpus callosum with peripheral neuropathy" OR "agenesis of corpus callosum with peripheral neuropathy" OR "hereditary motor and sensory neuropathy with agenesis of the corpus callosum" OR "hereditary motor and sensory neuropathy with agenesis of corpus callosum" OR "peripheral neuropathy associated with agenesis of the corpus callosum" OR "peripheral neuropathy associated with agenesis of corpus callosum"

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

Ingested 2026-07-26T17:33:57.393Z