Status:
TERMINATED
A Natural History Study of Aspartylglucosaminuria
Lead Sponsor:
Neurogene Inc.
Conditions:
Aspartylglucosaminuria
Aspartylglucosamidase (AGA) Deficiency
Eligibility:
All Genders
Brief Summary
Aspartylglucosaminuria (AGU) is a rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturban...
Detailed Description
Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by a genetic mutation resulting in deficiency or absence of a critical enzyme, leading to the accumulation of toxi...
Eligibility Criteria
Inclusion
- Participants must have a diagnosis of AGU based on clinical presentation and genetic testing (known or suspected pathogenic mutation in AGA gene).
Exclusion
- Patients unable to travel to UT Southwestern Medical Center and Children's Health Dallas will not be enrolled in the prospective natural history study collecting standardized clinical data; however, with participant consent, medical records will be obtained, reviewed, and recorded in the natural history database over time.
Key Trial Info
Start Date :
April 18 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 17 2022
Estimated Enrollment :
8 Patients enrolled
Trial Details
Trial ID
NCT03853876
Start Date
April 18 2019
End Date
March 17 2022
Last Update
April 12 2022
Active Locations (1)
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1
University of Texas Southwestern
Dallas, Texas, United States, 75390