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NGLY1 Deficiency: A Prospective Natural History Study

NCT03834987 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 29

Last updated 2022-06-08

No results posted yet for this study

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

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

Sponsors & Collaborators

Principal Investigators

  • Maura Ruzhnikov, MD · Stanford University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-02-01
Primary Completion
2021-11-19
Completion
2021-11-19

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03834987 on ClinicalTrials.gov