NGLY1 Deficiency: A Prospective Natural History Study

Status Terminated

Clinical Trial Summary

NGLY1 deficiency is a rare genetic disorder that is characterized by: global developmental delay and/or intellectual disability, hypo- or alacrima, transient elevation of transaminases, and a hyperkinetic movement disorder. Significant phenotypic variability has been observed in the small number of affected individuals described in the medical literature. The purpose of this study is to describe the natural history of NGLY1 deficiency in a prospective, detailed, and highly uniform manner. Study participants will be closely monitored over the course of five years in order to: - understand the clinical spectrum and progression of NGLY1 deficiency using standardized clinical and neurodevelopmental assessments - identify clinical and biomarker endpoints for use in therapeutic trials, and - identify genotype-phenotype correlations Close clinical follow-up will allow for generation of a rich dataset and detailed understanding of the natural history of NGLY1 deficiency.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Genetic Syndrome

Clinical Trial Details

NCT number	NCT03834987
Study type	Observational
Source	Stanford University
Contact
Status	Terminated
Phase
Start date	February 1, 2019
Completion date	November 19, 2021

View Details

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