Status:
TERMINATED
NGLY1 Deficiency: A Prospective Natural History Study
Lead Sponsor:
Stanford University
Collaborating Sponsors:
Grace Science Foundation
Conditions:
Genetic Syndrome
Eligibility:
All Genders
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 hyperkin...
Eligibility Criteria
Inclusion
- 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
- The presence of a second, confirmed disorder, genetic or otherwise, affecting neurodevelopment or with other overlapping symptoms of NGLY1 deficiency
Key Trial Info
Start Date :
February 1 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
November 19 2021
Estimated Enrollment :
29 Patients enrolled
Trial Details
Trial ID
NCT03834987
Start Date
February 1 2019
End Date
November 19 2021
Last Update
June 8 2022
Active Locations (1)
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1
Stanford University
Stanford, California, United States, 94305