ORPHA:314597
Chudley-McCullough syndrome
Publications
107
59.8th percentile
Trials
0
Interventional, condition-specific
Researchers
743
Distinct authors in sample
Gene link
GPSM2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss ( or rapidly in infancy) associated with a complex brain including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.
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:0011411
- MeSH:C535459
- OMIM:604213
- UMLS:C1858695
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 — GPSM2
- LiteraturePresent
107 matched papers (69 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 (GPSM2).
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?
107
107 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.
107 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).
69 in the last 10 years · high confidence · 59.8th percentile (publications denominator)
Phrase hits: 107 · MeSH hits: 4
Who's working on it?
743
Distinct author names in 107 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.
- 01Doherty D7 papers · 2016
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 - 02Tekin M5 papers · 2015
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, United States of America.
Papers in Europe PMC - 03Barkovich AJ4 papers · 2019
3 Departments of Pediatrics and Neurosurgery, Radiology and Biomedical Imaging, The University of California Children's Hospital, CA 94143, USA4 Departments of Paediatrics and Neurosurgery, Radiology and Biomedical Imaging, The University of California San Francisco and The Benioff Children's Hospital, CA 94143-0628 USA.
Papers in Europe PMC - 04Dobyns WB4 papers · 2020
Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.
Papers in Europe PMC - 05Friedman TB4 papers · 2020
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
Papers in Europe PMC - 06Ishak GE4 papers · 2016
Department of Radiology, Seattle Children's Hospital and University of Washington, Seattle, WA 98195, USA.
Papers in Europe PMC - 07Mancini GMS4 papers · 2020
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Papers in Europe PMC - 08Montcouquiol M4 papers · 2020
INSERM, Neurocentre Magendie, U1215, 146 rue Leo-Saignat, Bordeaux, France.
Papers in Europe PMC - 09Oegema R4 papers · 2020
Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands. r.oegema@umcutrecht.nl.
Papers in Europe PMC - 10Azaiez H3 papers · 2018
Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology - Head and Neck Surgery, University of Iowa, Iowa City, 52242, IA, USA.
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 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.
high 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.
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.
"Chudley-McCullough syndrome"
MeSH descriptor terms unioned into the query: Chudley-Mccullough syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Chudley-McCullough syndrome" OR "GPSM2"
Recall-expansion terms: GPSM2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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
Ingested 2026-07-27T13:09:32.243Z