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First received: November 02, 2023

Clinical Trial: NGLY1 Natural History

Study Status: Completed

Recruit Status: RECRUITING

Condition: NGLY1 Deficiency

Study Type: OBSERVATIONAL


Official Title: Investigation of NGLY1 Deficiency Movement Disorder & Clinical Features

Brief Summary: N-glycanase 1 (NGLY1) Deficiency (OMIM #615273) is an ultra-rare, autosomal recessive disorder caused by loss of function variants in NGLY1 gene.The multisystemic disorder is characterized by five key features: (1) global developmental delay and/or intellectual disability, (2) a (primarily) hyperkinetic movement disorder (3) transient elevation of liver transaminases (4) (hypo)- alacrima and (5) peripheral neuropathy.The condition was first reported in 2012 and thus comprehensive characterization of the…

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