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Sponsor decision not related to safety concerns
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The objective of this observational study is to evaluate the seroprevalence of anti-AAV antibodies in subjects with Ornithine Transcarbamylase (OTC) deficiency, Glycogen Storage Disease Type Ia (GSDIa), and Wilson Disease
The study is primarily designed to follow a virtual model, in which Screening will take place over a telephone/video call. The study will comprise a single home health visit, either on the same day as Screening or within 30 days of enrollment. A safety follow-up may occur up to 5 days after Day 1 assessments are completed.
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| Measure | Description | Time Frame |
|---|---|---|
| Prevalence of Anti-AAV8 Antibodies in Subjects with OTC Deficiency or GSDIa | Up to 35 days | |
| Prevalence of Anti-AAV9 Antibodies in Subjects with Wilson Disease | Up to 35 days |
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Inclusion Criteria:
Exclusion Criteria:
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Study population will include approximately equal proportions of subjects with OTC deficiency, GSDIa, and Wilson Disease
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| Name | Affiliation | Role |
|---|---|---|
| Medical Director | Ultragenyx Pharmaceutical Inc | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Synexus Clinical Research US (Virtual Trial) | Akron | Ohio | 44311 | United States | ||
| Hospital de Clinicas de Porto Alegre |
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| ID | Term |
|---|---|
| D020163 | Ornithine Carbamoyltransferase Deficiency Disease |
| D006527 | Hepatolenticular Degeneration |
| C538655 | Hepatorenal form of glycogen storage disease |
| ID | Term |
|---|---|
| D056806 | Urea Cycle Disorders, Inborn |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
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Blood and urine samples for future biomarker assay development
| Porto Alegre |
| Rio Grande do Sul |
| 90560-030 |
| Brazil |
| McGill University Health Center | Montreal | Quebec | H4A 3J1 | Canada |
| Hospital ClĂnico Universitario de Santiago de Compostela | Santiago de Compostela | 15706 | Spain |
| Synexus North East Clinical Research Centre | Hexham | NE46 1QJ | United Kingdom |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D001480 | Basal Ganglia Diseases |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D008664 | Metal Metabolism, Inborn Errors |