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Stickler syndrome, type 4

MONDO:0013590

Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.

Also known as: COL9A1 autosomal recessive Stickler syndrome, autosomal recessive Stickler syndrome caused by mutation in COL9A1, STICKLER syndrome, type IV, STL4

13 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Nervous system disorder (231) Musculoskeletal system disorder (207) Hereditary disease (176) Eye disorder (102) Retinal disorder (85) Bone disorder (51) Syndromic disease (25) Human disease (14) Osteochondrodysplasia (12)
Trials to join now! 6 Not yet recruiting 1 Completed 5 Terminated 1
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  • New eye camera could spot retinal disease earlier

    Knowledge-focused Not yet recruiting

    This study will test a new, noninvasive camera called XyCAM CRE that measures blood flow in the back of the eye. Researchers will compare its images with standard eye tests in 350 adults with retinal disorders. The goal is to see if this camera can provide extra information to he…

    Sponsor: Stuart Terry Eye Associates • Aim: Knowledge-focused

    Last updated Jun 27, 2026 13:07 UTC

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