Stickler Syndrome Clinical Trials 2026 — Find Recruiting Studies

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 childhood Vitreous abnormality and risk of retinal detachment Sensorineural or mixed hearing loss Midface hypoplasia and cleft palate (Pierre Robin sequence in neonates) Early-onset degenerative arthritis and joint pain Hypermobility and spondyloepiphyseal dysplasia Marfanoid habitus in some subtypes

Clinical Trial Eligibility Tips

What to know before applying to Stickler Syndrome trials.

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.