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A Natural History Study of Aspartylglucosaminuria (AGU)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03853876
Recruitment Status : Suspended (Revising Protocol Based on Expert Feedback)
First Posted : February 26, 2019
Last Update Posted : August 27, 2019
Sponsor:
Information provided by (Responsible Party):
Neurogene, Inc.

Tracking Information
First Submitted Date January 17, 2019
First Posted Date February 26, 2019
Last Update Posted Date August 27, 2019
Actual Study Start Date April 18, 2019
Estimated Primary Completion Date February 2024   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 21, 2019)
  • Neuropsychological Testing [ Time Frame: 5 years ]
    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
  • Ophthalmological Evaluation [ Time Frame: 5 years ]
    Participants will undergo an ophthalmological assessment every 6 months to better characterize the involvement of the eye in AGU.
  • Visual Evoked Potential (VEP) [ Time Frame: 5 years ]
    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.
  • Brainstem Auditory Evoked Response (BAER) [ Time Frame: 5 years ]
    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.
  • Magnetic Resonance Imaging (MRI)/Magnetic Resonance Spectroscopy (MRS) [ Time Frame: 5 years ]
    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.
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03853876 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: February 21, 2019)
  • Adaptive functioning: Vineland Adaptive Behavior Scales, 3rd Ed [ Time Frame: 5 years ]
    Participants will undergo a standardized neuropsychological evaluation every 6-12 months
  • Language: Expressive One-Word Picture Vocabulary Test, 4th Ed, Receptive One-Word Picture Vocabulary Test, 4th Ed, NEPSY, 2nd Ed [ Time Frame: 5 years ]
    Participants will undergo a standardized neuropsychological evaluation every 6-12 months
  • Motor: NIH Toolbox Early Childhood Motor Battery or NIH Toolbox Motor Battery, 6 Minute Walk Test, Beery-Buktenica Development [ Time Frame: 5 years ]
    Participants will undergo a standardized neuropsychological evaluation every 6-12 months
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title A Natural History Study of Aspartylglucosaminuria
Official Title A Natural History Study of Aspartylglucosaminuria
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.

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 toxic deposits in cells across multiple organ systems.

Aspartylglucosaminuria (AGU) is a rare, neurodegenerative, LSD, caused by a deficiency of the aspartylglucosaminidase (AGA) enzyme, which leads to toxic accumulation of aspartylglucosamine and subsequent cellular dysfunction. AGU has been most commonly reported in people of Finnish and Nordic descent, but is present across ethnicities and is typically misdiagnosed or undiagnosed.

Aspartylglucosaminuria (AGU) is characterized by developmental delay and intellectual disability that worsens with age. Early disease is characterized by increased frequency of bacterial ear infections, recurrent ear tube placement, intestinal dysfunction, disruptive sleep patterns, skeletal abnormalities, and gait disturbances, among others. Individuals progressively lose motor and cognitive skills, develop behavioral/emotional lability and their risk of seizures increases with age. People with AGU have a shortened life span.

No prospective natural history study for AGU has been reported. This study aims to prospectively investigate the natural history of AGU, and concurrently to identify potential outcome measures that could be used in future clinical trials. No investigational product will be provided in the study.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   None Retained
Description:
Patients will also be given the opportunity to have serum samples stored for up to 10 years for future exploratory analyses.
Sampling Method Non-Probability Sample
Study Population Patients with a confirmed genetic diagnosis of aspartylglucosaminuria.
Condition
  • Aspartylglucosaminuria
  • Aspartylglucosamidase (AGA) Deficiency
  • Lysosomal Storage Diseases
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Suspended
Estimated Enrollment
 (submitted: February 21, 2019)
20
Original Estimated Enrollment Same as current
Estimated Study Completion Date August 2024
Estimated Primary Completion Date February 2024   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • 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.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03853876
Other Study ID Numbers STU 2018-0017
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party Neurogene, Inc.
Study Sponsor Neurogene, Inc.
Collaborators Not Provided
Investigators
Principal Investigator: Kimberly Goodspeed, MD UT- Southwestern
PRS Account Neurogene, Inc.
Verification Date August 2019