Stopped: Study concluded by Stanford University
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.
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Detailed phenotyping of the clinical course of NGLY1 deficiency over time
Timeframe: 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using Mullen Scales of Early Learning
Timeframe: 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using Bruininks-Oseretsky Test of Motor Proficiency, Second Edition
Timeframe: 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using the Peabody Scales of Motor Development
Timeframe: 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using the Differential Ability Scales II
Timeframe: 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using the Beery Visual Motor Integration developmental test
Timeframe: 5 years