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CNGB3-related retinopathy

MONDO:0100446

A retinopathy caused by biallelic variants in the CNGB3 gene.

Also known as: CNGB3 retinopathy, ACHM1, ACHM1 (formerly), ACHM1, formerly, ACHM3, CNGB3 achromatopsia, RMCH1, RMCH1 (formerly)

1 clinical trial for this condition and its sub-types.

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Sub-types

Achromatopsia 3 (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neuromuscular disease (98) Human disease (14) Hereditary neurological disease (5) Hereditary neuromuscular disease (3) Disease by molecular mechanism (2) Disease of genetic or genomic mechanism (2) Disease by body system or component (0)
Not yet recruiting 1
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  • Gene therapy readiness check: new study maps virus immunity in muscle disease patients

    Knowledge-focused Not yet recruiting

    This study will test blood samples from 450 people aged 6 to 60 with inherited neuromuscular diseases to see if they have antibodies that could block gene therapy viruses (AAVs). The goal is to understand how common these antibodies are and which patients might be good candidates…

    Phase: NA • Sponsor: Genethon • Aim: Knowledge-focused

    Last updated Jun 27, 2026 13:04 UTC

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