NCT03834987

NGLY1 Deficiency: A Prospective Natural History Study

• Status: Terminated
• Phase: —
• Study type: Observational
• Enrollment: 29 (actual)
• Sponsor: Stanford University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Genetic Syndrome

Interventions

Type	Name	Description
OTHER	Neurodevelopmental Assessment	Developmental assessment at baseline and longitudinally as measured by age and ability-appropriate scales, including: the Mullen Scales of Early Learning, the Peabody Scales of Motor Development, the Vineland 3, and Beery Visual Motor Integration

Timeline

• Start date: 2019-02-01
• Primary completion: 2021-11-19
• Completion: 2021-11-19
• First posted: 2019-02-08
• Last updated: 2022-06-08

Locations

1 site across 1 country: United States