NCT03853876|Terminated
Study Stopped
Discontinued AGU development program
A Natural History Study of Aspartylglucosaminuria
AGU
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Discontinued AGU development program
AGU
Sponsor study identifier
observational
8
1 country
1
Study Start
April 18, 2019
Actual (reported)Primary Completion
October 15, 2020
Actual (reported)Study Completion
March 17, 2022
Actual (reported)Aspartylglucosaminuria (AGU) is a rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance and, ultimately, premature death, and has no available treatments. The purpose of this study is to investigate the clinical characteristics and natural clinical progression of symptoms in individuals with AGU. This natural history study is important to better understand disease course to be able to determine clinically meaningful outcome measures for use in future clinical trials.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
March 17, 2022
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
January 17, 2019
Actual (reported)February 26, 2019
Actual (reported)April 18, 2019
Actual (reported)October 15, 2020
Actual (reported)March 17, 2022
Actual (reported)Neuropsychological Testing
Participants will undergo a standardized neuropsychological evaluation every 6-12 months, depending upon the assessments as follows: Global Cognitive: Leiter International Performance Scale, 3rd Ed, Reynolds Intellectual Assessment Scales, 2nd Ed, Mullen Scales of Early Learning Emotional: Aberrant Behavior Checklist, 2nd Ed, Behavior Assessment System for Children, 3rd Ed Behavioral functioning: Aberrant Behavior Checklist, 2nd Ed, Behavior Assessment System for Children, 3rd Ed
5 years
Ophthalmological Evaluation
Participants will undergo an ophthalmological assessment every 6 months to better characterize the involvement of the eye in AGU.
5 years
Visual Evoked Potential (VEP)
Participants will undergo a VEP test every 6 months to evaluate electrical signal transmission through the visual pathway from the retina to the visual cortex.
5 years
Adaptive functioning: Vineland Adaptive Behavior Scales, 3rd Ed
5 years
Language: Expressive One-Word Picture Vocabulary Test, 4th Ed, Receptive One-Word Picture Vocabulary Test, 4th Ed, NEPSY, 2nd Ed
5 years
Motor: NIH Toolbox Early Childhood Motor Battery or NIH Toolbox Motor Battery, 6 Minute Walk Test, Beery-Buktenica Development
5 years
Patients with a confirmed genetic diagnosis of aspartylglucosaminuria.
University of Texas Southwestern
Dallas, Texas, 75390, United States
Patients will also be given the opportunity to have serum samples stored for up to 10 years for future exploratory analyses.
Elise Beausoleil
Neurogene Inc.
8 participants (actual enrollment reported by the registry).
First Submitted
January 17, 2019
First Posted
February 26, 2019
Study Start
April 18, 2019
Actual (reported)Stem Cell Gene Therapy for Cystinosis
Brainstem Auditory Evoked Response (BAER)
Participants will undergo a BAER test every 6 months to evaluate electrical signal transmission from the 8th cranial nerve to the brainstem and the cortex in response to certain tones.
5 years
Magnetic Resonance Imaging (MRI)/Magnetic Resonance Spectroscopy (MRS)
An MRI scan of the brain will be performed annually to characterize the structural abnormalities associated with AGU. MRS will be performed on regions of interest in the brain.
5 years
Contact the study team to confirm eligibility.
Primary Completion
October 15, 2020
Actual (reported)Study Completion
March 17, 2022
Actual (reported)Last Updated
April 12, 2022
Record last verified: 2022-04
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Source: ClinicalTrials.gov.
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