Genetic SyndromeNCT03834987
NGLY1 Deficiency: A Prospective Natural History Study
An observational study of Genetic Syndrome, run by Stanford University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Genetic Syndrome
- What is being tested?
- Neurodevelopmental Assessment
- How many people
- 29 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Feb 2019to 19 Nov 2021
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals of any age with NGLY1 deficiency.
Who may be able to join
- 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
Who cannot join
- The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of NGLY1 deficiency
Trial locations and contacts
1 site in 1 country.
About this study
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:
Read more
- 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
- Being tested
- Neurodevelopmental Assessment
- Keywords
- NGLY1 Deficiency
- Medical subject headings
- Genetic Diseases, Inborn, NGLY1 deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Neurodevelopmental AssessmentOther
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
What is being measured
The primary outcome is the main question the study is designed to answer.
Detailed phenotyping of the clinical course of NGLY1 deficiency over time
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.
Measured: 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using Mullen Scales of Early Learning
Developmental assessment at baseline and longitudinally, if age and ability-appropriate.
Measured: 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using Bruininks-Oseretsky Test of Motor Proficiency, Second Edition
Developmental assessment at baseline and longitudinally, if age and ability-appropriate.
Measured: 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using the Peabody Scales of Motor Development
Developmental assessment at baseline and longitudinally, if age and ability-appropriate.
Measured: 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using the Differential Ability Scales II
Developmental assessment at baseline and longitudinally, if age and ability-appropriate.
Measured: 5 years
Neurodevelopmental profile of NGLY1 deficiency as measured using the Beery Visual Motor Integration developmental test
Developmental assessment at baseline and longitudinally, if age and ability-appropriate.
Measured: 5 years
Secondary outcomes (3)
Participant quality of life as measured through the Pediatric Quality of Life Inventory (PedsQL)
Quality of life will be evaluated at baseline and longitudinally.
Measured: 5 years
Caregiver quality of life as measured through the 36 Item Short Form Survey (SF36)
Quality of life will be evaluated at baseline and longitudinally. Caregivers will complete the survey but will not be enrolled in the study.
Measured: 5 years
Biomarkers for NGLY1 deficiency identified during the course of the study
Longitudinal collection and monitoring of laboratory studies and clinical presentation as measured through standardized and quantitative assessments may identify biomarkers for NGLY1 deficiency.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Feb 2019
- Study start1 Feb 2019
- Primary completion19 Nov 2021
- Study completion19 Nov 2021
Why it stopped: Study concluded by Stanford University
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Genetic SyndromeStudies of the same condition, open and under way.
- More trials run by Stanford UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 29 participants (actual)
Sponsor and investigators
- Lead sponsor
- Stanford University
- Sponsor type
- University, hospital or other
- Collaborators
- Grace Science Foundation
- Responsible party
- Principal investigator, Maura Ruzhnikov, Stanford University
- Investigators
- Maura Ruzhnikov, MD, Principal investigator, Stanford University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03834987
- Sponsor's protocol ID
- IRB-47335
- Status last verified
- Jun 2022
- First submitted
- 23 Jan 2019
- Last updated
- 8 Jun 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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.
Publications
Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR. Delineating the epilepsy phenotype of NGLY1 deficiency. J Inherit Metab Dis. 2022 May;45(3):571-583. doi: 10.1002/jimd.12494. Epub 2022 Mar 11.
PubMed 35243670Frater CH, Ruzhnikov MRZ, Beres S, Alcorn D, Shue A, Levy RJ. Ocular features of NGLY1 deficiency from a prospective longitudinal cohort. J AAPOS. 2024 Jun;28(3):103925. doi: 10.1016/j.jaapos.2024.103925. Epub 2024 Apr 30.
PubMed 38697387
Study at a glance
From the registry record, last updated by the sponsor on 8 Jun 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- NGLY1 Deficiency: A Prospective Natural History Study
- ClinicalTrials.gov ID
- NCT03834987
- Acronym / sponsor ID
- IRB-47335
- Conditions
- Genetic Syndrome
- Keywords
- NGLY1 Deficiency
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Study concluded by Stanford University
- Enrolment
- 29 participants (actual)
- Lead sponsor
- Stanford UniversityUniversity, hospital or other
- Collaborators
- Grace Science Foundation
- Study start
- 1 Feb 2019 (actual)
- Primary completion
- 19 Nov 2021 (actual)
- Study completion
- 19 Nov 2021 (actual)
- First posted
- 8 Feb 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals of any age with NGLY1 deficiency.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (1 listed)
- The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of NGLY1 deficiency
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Neurodevelopmental AssessmentDevelopmental 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 | Other | – |
Primary outcome
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.
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.
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.
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.
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.
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.
3 secondary outcomes
Participant quality of life as measured through the Pediatric Quality of Life Inventory (PedsQL)
Time frame: 5 years
Caregiver quality of life as measured through the 36 Item Short Form Survey (SF36)
Time frame: 5 years
Biomarkers for NGLY1 deficiency identified during the course of the study
Time frame: 5 years
Results and safety
The study was stopped early (reason given: Study concluded by Stanford University). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jun 2022.
- Results publication: PubMed 35243670Levy RJ, Frater CH, Gallentine WB, Phillips JM, Ruzhnikov MR. Delineating the epilepsy phenotype of NGLY1 deficiency. J Inherit Metab Dis. 2022 May;45(3):571-583. doi: 10.1002/jimd.12494. Epub 2022 Mar 11.
- Derived from this study: PubMed 38697387Frater CH, Ruzhnikov MRZ, Beres S, Alcorn D, Shue A, Levy RJ. Ocular features of NGLY1 deficiency from a prospective longitudinal cohort. J AAPOS. 2024 Jun;28(3):103925. doi: 10.1016/j.jaapos.2024.103925. Epub 2024 Apr 30.
- Grace Science FoundationLink provided by the sponsor.
- Neurogenomics at StanfordLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Maura Ruzhnikov, MD principal investigator
Stanford University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Syndrome, run by Stanford University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 8 Jun 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Study concluded by Stanford University). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Detailed phenotyping of the clinical course of NGLY1 deficiency over time (time frame: 5 years). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03834987, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jun 2022.