A Natural History Study of Aspartylglucosaminuria (AGU)
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ClinicalTrials.gov Identifier: NCT03853876 |
Recruitment Status :
Suspended
(Revising Protocol Based on Expert Feedback)
First Posted : February 26, 2019
Last Update Posted : August 27, 2019
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Tracking Information | |||||
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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 |
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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 |
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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. |
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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. |
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Study Type | Observational | ||||
Study Design | Observational Model: Cohort Time Perspective: Prospective |
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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.
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Sampling Method | Non-Probability Sample | ||||
Study Population | Patients with a confirmed genetic diagnosis of aspartylglucosaminuria. | ||||
Condition |
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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. |
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Recruitment Information | |||||
Recruitment Status | Suspended | ||||
Estimated Enrollment |
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:
Exclusion Criteria:
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Sex/Gender |
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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 |
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IPD Sharing Statement | Not Provided | ||||
Responsible Party | Neurogene, Inc. | ||||
Study Sponsor | Neurogene, Inc. | ||||
Collaborators | Not Provided | ||||
Investigators |
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PRS Account | Neurogene, Inc. | ||||
Verification Date | August 2019 |