A Natural History Study of Aspartylglucosaminuria

NCT03853876 | Terminated

• 1 other identifier: AGU-100
• Study Type: observational
• Target: 8
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Aspartylglucosaminuria; Aspartylglucosamidase (AGA) Deficiency; Lysosomal Storage Diseases

Outcome Measures

Primary Outcomes (5)

• 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

• 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

Secondary Outcomes (3)

• 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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a confirmed genetic diagnosis of aspartylglucosaminuria.

You may qualify if:

• Participants must have a diagnosis of AGU based on clinical presentation and genetic testing (known or suspected pathogenic mutation in AGA gene).

You may not qualify if:

• 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.

Sponsors & Collaborators

• Neurogene Inc.: lead

Study Sites (1)

University of Texas Southwestern

Dallas, Texas, 75390, United States

Location

Biospecimen

Retention: NONE RETAINED

Patients will also be given the opportunity to have serum samples stored for up to 10 years for future exploratory analyses.

MeSH Terms

Conditions

Aspartylglucosaminuria; Aspartylglucosamidase (AGA) deficiency; Lysosomal Storage Diseases

Condition Hierarchy (Ancestors)

Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Elise Beausoleil

  Neurogene Inc.

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 17, 2019
• First Posted: February 26, 2019
• Study Start: April 18, 2019
• Primary Completion: October 15, 2020
• Study Completion: March 17, 2022
• Last Updated: April 12, 2022

Record last verified: 2022-04

Locations

US (1)