NGLY1 Deficiency: A Prospective Natural History Study

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

29 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-02-01

Study Completion Date

2021-11-19

Brief Summary

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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 Description

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Conditions

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Genetic Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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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

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Parent(s)/legal representative and/or participant must be willing and able to give informed consent/assent for participation in the study
* Males or females of any age
* Suspected or confirmed diagnosis of NGLY1 deficiency with genetic variants in both NGLY1 alleles and consistent clinical characteristics
* Participant and caregiver must be willing to provide clinical data, participate in standardized assessments, and provide biological samples (if living in the United States)
* Willingness to travel to Palo Alto, CA is favored, but not required

Exclusion Criteria

* The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of NGLY1 deficiency

Eligible Sex

ALL

Accepts Healthy Volunteers

No