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Congenital myasthenic syndrome 4

MONDO:1040021

Any postsynaptic congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNE gene.

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

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Sub-types

Congenital myasthenic syndrome 4A (0) Congenital myasthenic syndrome 4B (0) Congenital myasthenic syndrome 4C (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neuromuscular disease (98) Syndromic disease (24) Human disease (14) Hereditary neurological disease (5) Congenital myasthenic syndrome (4) Hereditary neuromuscular disease (3) Disease of genetic or genomic mechanism (2)
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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