RecruitingNot applicableNCT07146516
Connective Tissue
Stickler Syndrome
Also known as hereditary progressive arthro-ophthalmopathy, Marshall-Stickler syndrome
Stickler syndrome is a progressive connective tissue disorder affecting collagen types II and XI, presenting with a characteristic triad of ocular, orofacial, and musculoskeletal abnormalities. The ocular phenotype is most severe in type I
ORPHA:828 ↗Gene COL2A1Gene COL11A1Gene COL11A2Prevalence 1 in 7,500–9,000Onset CongenitalGenetic — autosomal dominant (most), autosomal recessive (rare)
2
studies recruiting now
as of 7 Sept 2026
6
studies registered in total
as of 7 Sept 2026
2
countries with a recruiting site
as of 7 Sept 2026
28 Aug 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT01793168
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Showing the 2 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Stickler Syndrome
Stickler syndrome is a progressive connective tissue disorder affecting collagen types II and XI, presenting with a characteristic triad of ocular, orofacial, and musculoskeletal abnormalities. The ocular phenotype is most severe in type I (COL2A1) and carries a high lifetime risk of retinal detachment, which is a leading cause of blindness in young people. Hearing loss, midface hypoplasia, and early-onset arthropathy are variable features depending on the causative gene.
Common clinical features
High myopia presenting in early childhoodVitreous abnormality and risk of retinal detachmentSensorineural or mixed hearing lossMidface hypoplasia and cleft palate (Pierre Robin sequence in neonates)Early-onset degenerative arthritis and joint painHypermobility and spondyloepiphyseal dysplasiaMarfanoid habitus in some subtypes
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Stickler Syndrome. Not eligibility rules; those are set by each study.
- Ophthalmological records including vitreous phenotype classification (membranous vs. beaded) help confirm subtype and are frequently requested during eligibility screening.
- Audiological assessment and ENT history should be current (within 12 months) as hearing loss severity may affect trial stratification.
- Genetic subtype confirmation (COL2A1 vs. COL11A1/COL11A2) is essential, as some trials target specific collagen gene mutations.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).