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Leber congenital amaurosis 2

MONDO:0008765

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.

Also known as: LCA2, Leber congenital amaurosis 2, Leber congenital amaurosis caused by mutation in RPE65, Leber congenital amaurosis type 2, RPE65 Leber congenital amaurosis, amaurosis congenita of Leber 2, amaurosis congenita of Leber, type 2

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

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Eye disorder (102) Retinal disorder (85) Inherited retinal dystrophy (40) Retinal degeneration (40) Perceptual disorders (22) Human disease (14) Leber congenital amaurosis (9)
Trials to join now! 12 Not yet recruiting 3 Not yet finished but already full! 1 Completed 8 Terminated 2
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  • Newborn screening study aims to catch rare diseases at birth

    Diagnosis Ongoing

    This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

    Sponsor: RTI International • Aim: Diagnosis

    Last updated Jul 03, 2026 00:00 UTC

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