ORPHA:90654
Stickler syndrome type 2
Publications
136
63.1th percentile
Trials
1
Interventional, condition-specific
Researchers
1,116
Distinct authors in sample
Gene link
COL11A1
Definitive
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011493
- MeSH:C537493
- OMIM:604841
- UMLS:C1858084
- NCIT:C74985
Additional Mondo synonyms (3)
COL11A1 Stickler syndrome · Stickler syndrome caused by mutation in COL11A1 · Stickler syndrome type II
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — COL11A1
- LiteraturePresent
136 matched papers (82 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 trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (COL11A1).
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?
136
136 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.
136 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).
82 in the last 10 years · high confidence · 63.1th percentile (publications denominator)
Phrase hits: 136 · MeSH hits: 1
Who's working on it?
1,116
Distinct author names in 136 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Snead MP7 papers · 2024
Molecular Genetics Laboratory, Addenbrooke's NHS Trust, Cambridge, UK.
Papers in Europe PMC - 02Pope FM6 papers · 2000
Strangeways Research Laboratory, Addenbrooke's NHS Trust, Cambridge, UK.
Papers in Europe PMC - 03Richards AJ6 papers · 2024
MRC Connective Tissue Genetics Group, University of Cambridge, Department of Pathology, Cambridge CB2 1QP, UK.
Papers in Europe PMC - 04Scott JD5 papers · 2004Papers in Europe PMC
- 05Yates JR4 papers · 2000Papers in Europe PMC
- 06Baguley DM3 papers · 2021
National Institute for Health Research (NIHR) Nottingham Biomedical Research Centre, Nottingham, NG1 5DU, UK. David.baguley@nottingham.ac.uk.
Papers in Europe PMC - 07Han J3 papers · 2021
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China.
Papers in Europe PMC - 08Li Y3 papers · 2017
Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Malaysia.
Papers in Europe PMC - 09Payne SJ3 papers · 1996Papers in Europe PMC
- 10Superti-Furga A3 papers · 2025
Genetica AG, and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 1 trial are registered for Stickler syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07146516·RECRUITING·Retinal Detachment Prevention (Laser Prophylaxis) in Stickler Syndrome (SS)
Conditions: Stickler Syndrome Type 1 · Stickler Syndrome Type 2·Matched via name + MeSH
Broader category: Stickler syndrome
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Stickler syndrome type 2" OR "COL11A1 Stickler syndrome" OR "Stickler syndrome caused by mutation in COL11A1" OR "Stickler syndrome type II"
MeSH descriptor terms unioned into the query: Stickler syndrome, type 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Stickler syndrome type 2" OR "COL11A1 Stickler syndrome" OR "Stickler syndrome caused by mutation in COL11A1" OR "Stickler syndrome type II" OR "Stickler syndrome, type 2" OR "COL11A1"
Recall-expansion terms: COL11A1
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Stickler syndrome"
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 2026-07-27T03:53:41.014Z