A Natural History Study of Aspartylglucosaminuria
Cuvinte cheie
Abstract
Descriere
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.
Datele
| Ultima verificare: | 07/31/2019 |
| Primul depus: | 01/16/2019 |
| Inscriere estimată trimisă: | 02/20/2019 |
| Prima postare: | 02/25/2019 |
| Ultima actualizare trimisă: | 08/25/2019 |
| Ultima actualizare postată: | 08/27/2019 |
| Data actuală de începere a studiului: | 04/17/2019 |
| Data estimată de finalizare primară: | 01/31/2024 |
| Data estimată de finalizare a studiului: | 07/31/2024 |
Stare sau boală
Fază
Criterii de eligibilitate
| Sexe eligibile pentru studiu | All |
| Metoda de eșantionare | Non-Probability Sample |
| Acceptă voluntari sănătoși | da |
| Criterii | 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. |
Rezultat
Măsuri de rezultate primare
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]
Măsuri de rezultate secundare
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]
