A Natural History Study of Aspartylglucosaminuria
キーワード
概要
説明
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.
日付
| 最終確認済み: | 07/31/2019 |
| 最初に提出された: | 01/16/2019 |
| 提出された推定登録数: | 02/20/2019 |
| 最初の投稿: | 02/25/2019 |
| 最終更新が送信されました: | 08/25/2019 |
| 最終更新日: | 08/27/2019 |
| 実際の研究開始日: | 04/17/2019 |
| 一次完了予定日: | 01/31/2024 |
| 研究完了予定日: | 07/31/2024 |
状態または病気
段階
適格基準
| 研究に適格な性別 | All |
| サンプリング方法 | Non-Probability Sample |
| 健康なボランティアを受け入れる | はい |
| 基準 | 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. |
結果
主な結果の測定
1. Neuropsychological Testing [5 years]
2. Ophthalmological Evaluation [5 years]
3. Visual Evoked Potential (VEP) [5 years]
4. Brainstem Auditory Evoked Response (BAER) [5 years]
5. Magnetic Resonance Imaging (MRI)/Magnetic Resonance Spectroscopy (MRS) [5 years]
二次的な結果の測定
1. Adaptive functioning: Vineland Adaptive Behavior Scales, 3rd Ed [5 years]
2. Language: Expressive One-Word Picture Vocabulary Test, 4th Ed, Receptive One-Word Picture Vocabulary Test, 4th Ed, NEPSY, 2nd Ed [5 years]
3. Motor: NIH Toolbox Early Childhood Motor Battery or NIH Toolbox Motor Battery, 6 Minute Walk Test, Beery-Buktenica Development [5 years]
