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NGLY1 Deficiency: A Prospective Natural History Study

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ClinicalTrials.gov Identifier: NCT03834987
Recruitment Status : Recruiting
First Posted : February 8, 2019
Last Update Posted : February 8, 2019
Sponsor:
Collaborator:
Grace Science Foundation
Information provided by (Responsible Party):
Maura Ruzhnikov, 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.


Condition or disease Intervention/treatment
Genetic Syndrome Other: Neurodevelopmental Assessment

Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: NGLY1 Deficiency: A Prospective Natural History Study
Estimated Study Start Date : February 2019
Estimated Primary Completion Date : January 2026
Estimated Study Completion Date : January 2026



Intervention Details:
  • 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


Primary Outcome Measures :
  1. Detailed phenotyping of the clinical course of NGLY1 deficiency over time [ Time Frame: 5 years ]
    Conducted in patients with NGLY1 deficiency: detailed standardized general, neurologic, dysmorphologic, and ophthalmologic evaluations; clinical laboratory studies; electroencephalogram; nerve conduction studies; quantitative studies of autonomic function; scoring of movement disorder and NGLY1 deficiency symptom scales; and a timed 10-meter walk test. As much information as available will also be collected from existing medical records including clinical evaluations, imaging studies and neuropsychological and motor function evaluations.

  2. Neurodevelopmental profile of NGLY1 deficiency as measured using Mullen Scales of Early Learning [ Time Frame: 5 years ]
    Developmental assessment at baseline and longitudinally, if age and ability-appropriate.

  3. Neurodevelopmental profile of NGLY1 deficiency as measured using Bruininks-Oseretsky Test of Motor Proficiency, Second Edition [ Time Frame: 5 years ]
    Developmental assessment at baseline and longitudinally, if age and ability-appropriate.

  4. Neurodevelopmental profile of NGLY1 deficiency as measured using the Peabody Scales of Motor Development [ Time Frame: 5 years ]
    Developmental assessment at baseline and longitudinally, if age and ability-appropriate.

  5. Neurodevelopmental profile of NGLY1 deficiency as measured using the Differential Ability Scales II [ Time Frame: 5 years ]
    Developmental assessment at baseline and longitudinally, if age and ability-appropriate.

  6. Neurodevelopmental profile of NGLY1 deficiency as measured using the Beery Visual Motor Integration developmental test [ Time Frame: 5 years ]
    Developmental assessment at baseline and longitudinally, if age and ability-appropriate.


Secondary Outcome Measures :
  1. Participant quality of life as measured through the Pediatric Quality of Life Inventory (PedsQL) [ Time Frame: 5 years ]
    Quality of life will be evaluated at baseline and longitudinally.

  2. Caregiver quality of life as measured through the 36 Item Short Form Survey (SF36) [ Time Frame: 5 years ]
    Quality of life will be evaluated at baseline and longitudinally. Caregivers will complete the survey but will not be enrolled in the study.

  3. Biomarkers for NGLY1 deficiency identified during the course of the study [ Time Frame: 5 years ]
    Longitudinal collection and monitoring of laboratory studies and clinical presentation as measured through standardized and quantitative assessments may identify biomarkers for NGLY1 deficiency.



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals of any age with NGLY1 deficiency.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03834987


Locations
United States, California
Stanford University Recruiting
Stanford, California, United States, 94305
Contact: Study Team    650-736-0885    dpena25@stanford.edu   
Principal Investigator: Maura Ruzhnikov, MD         
Sub-Investigator: Elise Brimble, MS         
Sponsors and Collaborators
Stanford University
Grace Science Foundation
Investigators
Principal Investigator: Maura Ruzhnikov, MD Stanford University

Additional Information:
Publications:
Responsible Party: Maura Ruzhnikov, Clinical Assistant Professor, Stanford University
ClinicalTrials.gov Identifier: NCT03834987     History of Changes
Other Study ID Numbers: IRB-47335
First Posted: February 8, 2019    Key Record Dates
Last Update Posted: February 8, 2019
Last Verified: February 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Researchers and clinicians with academic interest in NGLY1 deficiency may be provided access to data obtained through this study. Any data or samples shared outside of Stanford University will be done so in a coded fashion with no protected health information included and with the execution of all applicable agreements (i.e. a material transfer agreement) or ongoing collaborations as approved in eProtocol 47335.

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Maura Ruzhnikov, Stanford University:
NGLY1 Deficiency