NGLY1 Deficiency: A Prospective Natural History Study

NGLY1 Deficiency: A Prospective Natural History Study

Sponsors

Lead Sponsor: Stanford University

Collaborator: Grace Science Foundation

Source Stanford University
Brief 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.

Overall Status Active, not recruiting
Start Date February 1, 2019
Completion Date January 2026
Primary Completion Date January 2026
Study Type Observational
Primary Outcome
Measure Time Frame
Detailed phenotyping of the clinical course of NGLY1 deficiency over time 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using Mullen Scales of Early Learning 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using Bruininks-Oseretsky Test of Motor Proficiency, Second Edition 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using the Peabody Scales of Motor Development 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using the Differential Ability Scales II 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using the Beery Visual Motor Integration developmental test 5 years
Secondary Outcome
Measure Time Frame
Participant quality of life as measured through the Pediatric Quality of Life Inventory (PedsQL) 5 years
Caregiver quality of life as measured through the 36 Item Short Form Survey (SF36) 5 years
Biomarkers for NGLY1 deficiency identified during the course of the study 5 years
Enrollment 28
Condition
Intervention

Intervention Type: Other

Intervention Name: Neurodevelopmental Assessment

Description: 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

Eligibility

Sampling Method: Non-Probability Sample

Criteria:

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

Gender: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No

Overall Official
Last Name Role Affiliation
Maura Ruzhnikov, MD Principal Investigator Stanford University
Location
Facility: Stanford University
Location Countries

United States

Verification Date

March 2020

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Stanford University

Investigator Full Name: Maura Ruzhnikov

Investigator Title: Clinical Assistant Professor

Keywords
Has Expanded Access No
Patient Data Yes
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective

Source: ClinicalTrials.gov