AspartylglucosaminuriaAGUNCT03853876
A Natural History Study of Aspartylglucosaminuria
An observational study of Aspartylglucosaminuria and Aspartylglucosamidase (AGA) Deficiency, run by Neurogene Inc. at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency, Lysosomal Storage Diseases
- How many people
- 8 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Apr 2019to 17 Mar 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with a confirmed genetic diagnosis of aspartylglucosaminuria.
Who may be able to join
- Participants must have a diagnosis of AGU based on clinical presentation and genetic testing (known or suspected pathogenic mutation in AGA gene).
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Texas Southwestern
Dallas, Texas, 75390
About this study
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.
Read the 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.
- Conditions
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency, Lysosomal Storage Diseases
- Medical subject headings
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) deficiency, Lysosomal Storage Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 5 years
Ophthalmological Evaluation
Participants will undergo an ophthalmological assessment every 6 months to better characterize the involvement of the eye in AGU.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 5 years
Secondary outcomes (3)
Adaptive functioning: Vineland Adaptive Behavior Scales, 3rd Ed
Participants will undergo a standardized neuropsychological evaluation every 6-12 months
Measured: 5 years
Language: Expressive One-Word Picture Vocabulary Test, 4th Ed, Receptive One-Word Picture Vocabulary Test, 4th Ed, NEPSY, 2nd Ed
Participants will undergo a standardized neuropsychological evaluation every 6-12 months
Measured: 5 years
Motor: NIH Toolbox Early Childhood Motor Battery or NIH Toolbox Motor Battery, 6 Minute Walk Test, Beery-Buktenica Development
Participants will undergo a standardized neuropsychological evaluation every 6-12 months
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Feb 2019
- Study start18 Apr 2019
- Primary completion15 Oct 2020
- Study completion17 Mar 2022
Why it stopped: Discontinued AGU development program
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AspartylglucosaminuriaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- Neurogene Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Elise Beausoleil, Study director, Neurogene Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03853876
- Sponsor's protocol ID
- AGU-100
- Acronym
- AGU
- Status last verified
- Apr 2022
- First submitted
- 17 Jan 2019
- Last updated
- 12 Apr 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Natural History Study of Aspartylglucosaminuria
- ClinicalTrials.gov ID
- NCT03853876
- Acronym / sponsor ID
- AGU / AGU-100
- Conditions
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency, Lysosomal Storage Diseases
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Discontinued AGU development program
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Neurogene Inc.Industry (pharma, biotech, devices)
- Study start
- 18 Apr 2019 (actual)
- Primary completion
- 15 Oct 2020 (actual)
- Study completion
- 17 Mar 2022 (actual)
- First posted
- 26 Feb 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with a confirmed genetic diagnosis of aspartylglucosaminuria.
Key inclusion criteria (1 listed)
- Participants must have a diagnosis of AGU based on clinical presentation and genetic testing (known or suspected pathogenic mutation in AGA gene).
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
3 secondary outcomes
Adaptive functioning: Vineland Adaptive Behavior Scales, 3rd Ed
Time frame: 5 years
Language: Expressive One-Word Picture Vocabulary Test, 4th Ed, Receptive One-Word Picture Vocabulary Test, 4th Ed, NEPSY, 2nd Ed
Time frame: 5 years
Motor: NIH Toolbox Early Childhood Motor Battery or NIH Toolbox Motor Battery, 6 Minute Walk Test, Beery-Buktenica Development
Time frame: 5 years
Results and safety
The study was stopped early (reason given: Discontinued AGU development program). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Apr 2022.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Elise Beausoleil study director
Neurogene Inc.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Aspartylglucosaminuria and Aspartylglucosamidase (AGA) Deficiency, run by Neurogene Inc. at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 12 Apr 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: Discontinued AGU development program). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Neuropsychological Testing (time frame: 5 years). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Apr 2022.