ORPHA:50817
Duane anomaly-myopathy-scoliosis syndrome
Also known as: Verloes-Deprez syndrome
Publications
135
59.2th percentile
Trials
0
Interventional, condition-specific
Researchers
894
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
135 matched papers (117 in last 10 years) Source
- Phenotype characterisedPresent
1 HPO annotations (e.g. Strabismus) 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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 2026-07-27
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?
135
135 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=3967) is 59.
135 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).
117 in the last 10 years · high confidence · 59.2th percentile (publications denominator)
Phrase hits: 135 · MeSH hits: 0
Who's working on it?
894
Distinct author names in 135 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.
- 01Kuhlmann E5 papers · 2023
Klinik für Rheumatologie und Immunologie, Medizinische Hochschule Hannover, OE 6830, Carl-Neuberg-Str. 1, 30625, Hannover, Germany. kuhlmann.ellen@mh-hannover.de.
Papers in Europe PMC - 02Dopfer-Jablonka A3 papers · 2022
Clinic for Rheumatology and Immunology, Hannover Medical School, Hanover, Germany.
Papers in Europe PMC - 03Nikčević AV3 papers · 2022
Department of Psychology, School of Law, Social and Behavioural Sciences, Kingston University, Kingston, UK.
Papers in Europe PMC - 04Spada MM3 papers · 2022
School of Applied Sciences, London South Bank University, London, UK.
Papers in Europe PMC - 05Abidin NEZ2 papers · 2024
Faculty of Sports and Exercise Science, University of Malaya, Kuala Lumpur, Malaysia.
Papers in Europe PMC - 06Aviles Gonzalez CI2 papers · 2025
Department of Medical Sciences and Public Health, University of Cagliari, 09042 Cagliari, Italy.
Papers in Europe PMC - 07Behrens GMN2 papers · 2022
Clinic for Rheumatology and Immunology, Hannover Medical School, Hanover, Germany.
Papers in Europe PMC - 08Blain B2 papers · 2019
Motivation, Brain and Behavior Team, Centre de NeuroImagerie de Recherche, Institut du Cerveau et de la Moelle épinière, Hôpital de la Pitié-Salpêtrière, 75013 Paris, France; INSERM UMRS 1127, CNRS UMR 7225, Université Pierre et Marie Curie-Paris 6, 75005 Paris, France; Centre d'Economie de la Sorbonne, Université Paris 1, 75013 Paris, France.
Papers in Europe PMC - 09Boamah SA2 papers · 2023
School of Nursing, 62703McMaster University Faculty of Health Sciences, Hamilton, ON, Canada.
Papers in Europe PMC - 10Cai Y2 papers · 2024
Department of Physical Education, Sun Yat-Sen University, Guangzhou, China. caiym@mail.sysu.edu.cn.
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 9 September 2026 · last trial check 9 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.
high 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 2026-07-27
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 Duane anomaly-myopathy-scoliosis syndrome — 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.
"Duane anomaly-myopathy-scoliosis syndrome" OR "Verloes-Deprez syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Duane anomaly-myopathy-scoliosis syndrome" OR "Verloes-Deprez 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
Ingested 2026-07-26T01:33:08.737Z