Status:
COMPLETED
NGLY1 Natural History
Lead Sponsor:
Baylor College of Medicine
Collaborating Sponsors:
Grace Science Foundation
Conditions:
NGLY1 Deficiency
Eligibility:
All Genders
2-25 years
Brief Summary
N-glycanase 1 (NGLY1) Deficiency (OMIM #615273) is an ultra-rare, autosomal recessive disorder caused by loss of function variants in NGLY1 gene. The multisystemic disorder is characterized by five ke...
Detailed Description
This is a single center, longitudinal descriptive study of the concurrent movement disorders and neurodevelopmental and clinical status in children with NGLY1 Deficiency. Subjects will be recruited t...
Eligibility Criteria
Inclusion
- \- Individuals aged 2 to 25 years with a confirmed molecular diagnosis of NGLY1 Deficiency.
Exclusion
- \- Prior or current participation in a therapeutic trial for NGLY1 Deficiency (note that neither the plan for future participation in an interventional trial nor participation in previous pilot study preclude entering this trial).
Key Trial Info
Start Date :
February 27 2023
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
October 24 2024
Estimated Enrollment :
15 Patients enrolled
Trial Details
Trial ID
NCT06122766
Start Date
February 27 2023
End Date
October 24 2024
Last Update
April 11 2025
Active Locations (1)
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1
Texas Children's Hospital
Houston, Texas, United States, 77030