ORPHA:1125
Ocular motor apraxia, Cogan type
Also known as: Oculomotor apraxia, Cogan type
Publications
5,625
Trials
0
Interventional, condition-specific
Researchers
7
Distinct authors in sample
Gene link
SUFU
Strong
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.
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:0009764
- MeSH:C537423
- OMIM:257550
- UMLS:C0543874
Additional Mondo synonyms (2)
oculomotor apraxia, Cogan type · oculomotor apraxia, congenital, Cogan-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.”
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.
- Gene identifiedPresent
Strong — SUFU
- LiteraturePresent
5,625 matched papers (4,158 in last 10 years) Source
- Phenotype characterisedPresent
19 HPO annotations (e.g. Jerky head movements; Seizure; Oculomotor apraxia) Source
- Animal modelPresent
1 genotype model (Danio rerio) Source
- 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 (SUFU).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
19
Associated phenotypes · MONDO:0009764
- Jerky head movements
- Seizure
- Oculomotor apraxia
- Ataxia
- Delayed speech and language development
Showing 5 of 19 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- dscaml1vt1/+; cu2Tg·ZFIN:ZDB-FISH-201218-4·Danio rerio
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?
5,625
5,625 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
5,625 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).
4,158 in the last 10 years · low confidence
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
7
Distinct author names in 3 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.
- 01Gleeson JG1 paper · 2011
Department of Neurosciences and Paediatrics, University of California, San Diego, La Jolla, CA, USA.
Papers in Europe PMC - 02Jan JE1 paper · 1997Papers in Europe PMC
- 03Kim M1 paper · 2025
Department of Ophthalmology, Seoul National University College of Medicine, Seoul, South Korea.
Papers in Europe PMC - 04Kim US1 paper · 2025
Department of Ophthalmology, Chung-Ang University, College of Medicine, Seoul, South Korea. ungsookim@cau.ac.kr.
Papers in Europe PMC - 05Poskitt KJ1 paper · 1997Papers in Europe PMC
- 06Sargent MA1 paper · 1997
Department of Radiology, British Columbia's Children's Hospital, Vancouver, Canada.
Papers in Europe PMC - 07Sattar S1 paper · 2011
Department of Neurosciences and Paediatrics, University of California, San Diego, La Jolla, CA, 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 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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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).
Uncertain / not reviewed (59)
- ctis·2025-523837-25-00·Authorised·4TAZPower: A Phase 3b/4, Randomized, Double-Blind, Parallel-Group, Placebo-Controlled, Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Patients with Genetically Confirmed Barth Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524282-24-00·Authorised·A Phase 3b, Open-Label Study of Crinecerfont to Evaluate Androgen Reduction and Related Outcomes in Adults With Classic Congenital Adrenal Hyperplasia
skipped — LLM skipped (--skip-llm)
- ctis·2025-524576-28-00·Authorised·Intrathecal Administration of MELPIDA For Hereditary Spastic Paraplegia Type 50 (SPG50): A multicenter Phase 3, Open-Label Trial with Matched Prospective Concurrent Control Arm (CT-MEL-03)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521506-17-01·Authorised·iSTOP-CP: intranasal Stem Cells to treat Perinatal brain injury to combat Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2024-514190-21-00·Authorised, ongoing·Long-term Follow-up (LTFU) Study of Participants in any iECURE Protocol Using an Investigational Product
skipped — LLM skipped (--skip-llm)
- ctis·2025-523896-44-00·Authorised·Efanesoctocog alfa treatment in patients with synovitis in congenital hemophilia A: multicenter, randomized, open-label, phase 3 clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523497-16-00·Authorised·TSRA196-AAT-201: A Phase 1/2, Open-Label, Multi-Center, Dose Escalation, Dose Expansion, and Single Repeat Dose Study of TSRA-196 in Adults With the PiZZ Genotype Who Have Lung and/or Liver Disease Associated with Severe Alpha-1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-523109-14-00·Authorised·A prospective, open-label, non-randomized, multicentre trial to assess the safety and PD of Cangrelor as procedural platelet inhibitor in paediatric subjects from birth to <18 years of age undergoing diagnostic and/or therapeutic percutaneous vascular procedures for management of congenital heart disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-522434-32-00·Authorised, recruiting·A MULTICENTER, RANDOMIZED, OPEN-LABEL, PHASE III CLINICAL TRIAL TO EVALUATE THE EFFICACY, SAFETY, PHARMACOKINETICS AND PHARMACODYNAMICS OF NXT007 PROPHYLAXIS VERSUS FACTOR VIII PROPHYLAXIS IN PEOPLE WITH HEMOPHILIA A WITHOUT INHIBITORS
skipped — LLM skipped (--skip-llm)
- ctis·2024-518043-38-00·11·MOOD - MethOxyflurane analgesia in vasoOcclusive crises of sickle cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524423-50-00·Authorised·An open-label, single-arm, phase 1/2 first-in-human study to assess the safety and efficacy of autologous CD34+ cells transduced with a lentiviral vector encoding the human NCF1 gene (SGX-001) in paediatric and adult patients with chronic granulomatous disease caused by p47phox deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-523400-72-00·Authorised·A Phase 2, Randomized, Double-blind, Controlled Study to Evaluate the Safety and Efficacy of VX‑828/Deutivacaftor With and Without Tezacaftor in Subjects Aged 18 Years and Older With Cystic Fibrosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-522964-33-00·Authorised·A Phase 4, Multicenter, Double-blind, Study to Investigate the Efficacy, Safety, and Tolerability of 3 Active Doses of Respreeza® / Zemaira® Weekly Intravenous Infusions Administered over 3 Years as Longterm Maintenance Therapy in Adult Subjects with Emphysema Related to Alpha1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-524995-53-00·Authorised·Reproductive outcomes with letrozole co-treatment during ovarian stimulation in women with endometriosis undergoing IVF/ICSI: a randomised, multicentre, parallel group pragmatic trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-525073-37-00·Revoked·A study to investigate the safety, tolerability, pharmacokinetics, immunogenicity and pharmacodynamics of a single subcutaneous dose of GSK4771261 in healthy participants aged 25 to 55 years of age inclusive
skipped — LLM skipped (--skip-llm)
- ctis·2025-523811-12-00·Authorised·A Multicenter, Randomized, Operationally Seamless Phase 2/3 Study to Evaluate the Efficacy and Safety of BMN 333 versus Vosoritide in Children with Achondroplasia
skipped — LLM skipped (--skip-llm)
- ctis·2025-521154-42-00·Authorised, recruiting·Phase 2a, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety of Anumigilimab (CSL324) in Adults with Sickle Cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-523738-21-00·Authorised·Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of MRM-3379 in Male Participants with Fragile X Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-523793-16-00·Authorised, recruiting·A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind Study of the Efficacy and Safety of Vamifeport in Adult Subjects with HFE-related Hereditary Hemochromatosis (FERROCLEAR Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523558-14-00·Authorised·A Phase 1 Study of AIR-001 in Adults with AATD.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521628-31-00·Authorised·A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects with Friedreich’s Ataxia
skipped — LLM skipped (--skip-llm)
- ctis·2025-523509-13-00·Authorised, ongoing·Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children with Hypochondroplasia: ACCEL OLE
skipped — LLM skipped (--skip-llm)
- ctis·2025-523157-34-00·Authorised, recruiting·A Phase 3 randomized, double-blind, placebo-controlled, parallel group, multicenter study with open-label extension to evaluate the efficacy and safety of fenfluramine hydrochloride in study participants with Rett syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524195-29-00·Authorised·A randomized, placebo-controlled trial to assess the efficacy, tolerability, and pharmacokinetics of clemastine in children and adults with Pitt-Hopkins syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-522207-15-01·Authorised·An Open-label, Multicenter, Two Part, Ascending Dose Followed by a Controlled Trial to Assess the Safety and Efficacy of a Subretinal Administration of AAVB-039 in Participants with Stargardt Disease (STGD1) (CELESTE)
skipped — LLM skipped (--skip-llm)
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 Ocular motor apraxia, Cogan type — 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.
("Ocular motor apraxia, Cogan type" OR "Oculomotor apraxia, Cogan type" OR "oculomotor apraxia, congenital, Cogan-type") OR ("SUFU" OR "SUFU syndrome" OR "SUFU-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ocular motor apraxia, Cogan type" OR "Oculomotor apraxia, Cogan type" OR "oculomotor apraxia, congenital, Cogan-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 (5625) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T16:28:13.160Z