Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease

Observational Clinical Study of Anti-AAV Seroprevalence in Subjects With Ornithine Transcarbamylase Deficiency, Glycogen Storage Disorder Type Ia, and Wilson Disease

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

Study Overview

• Status: Terminated
• Conditions: Wilson Disease; Ornithine Transcarbamylase Deficiency; Glycogen Storage Disease Type IA

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 51

Contacts and Locations

Study Locations

• Brazil
  • Rio Grande Do Sul
    • Porto Alegre, Rio Grande Do Sul, Brazil, 90560-030
      • Hospital de Clinicas de Porto Alegre
• Canada
  • Quebec
    • Montréal, Quebec, Canada, H4A 3J1
      • McGill University Health Center
• Spain
  • Santiago De Compostela, Spain, 15706
    • Hospital Clínico Universitario de Santiago de Compostela
• United Kingdom
  • Hexham, United Kingdom, NE46 1QJ
    • Synexus North East Clinical Research Centre
• United States
  • Ohio
    • Akron, Ohio, United States, 44311
      • Synexus Clinical Research US (Virtual Trial)

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Study population will include approximately equal proportions of subjects with OTC deficiency, GSDIa, and Wilson Disease

Description

Inclusion Criteria:

• Diagnosis of OTC deficiency, GSDIa, or Wilson Disease.
• Provide informed consent after the nature of the study has been explained, and prior to any research-related procedures.

Exclusion Criteria:

• Prior exposure to an AAV-based gene therapy.
• Concurrent or previous participation in another Ultragenyx clinical study.
• Recipient of a liver transplant.
• Presence or history of any condition that, in the view of the Investigator, would interfere with participation, pose undue risk, or would confound interpretation of results.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: Ultragenyx Pharmaceutical Inc
• Investigators: Study Director: Medical Director, Ultragenyx Pharmaceutical Inc

Study record dates

Study Major Dates

• Study Start (Actual): June 23, 2021
• Primary Completion (Actual): November 17, 2022
• Study Completion (Actual): November 17, 2022

Study Registration Dates

• First Submitted: May 26, 2021
• First Submitted That Met QC Criteria: May 26, 2021
• First Posted (Actual): June 1, 2021

Study Record Updates

• Last Update Posted (Actual): June 12, 2023
• Last Update Submitted That Met QC Criteria: June 9, 2023
• Last Verified: June 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Liver Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Basal Ganglia Diseases; Movement Disorders; Neurodegenerative Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Heredodegenerative Disorders, Nervous System; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Metal Metabolism, Inborn Errors; Urea Cycle Disorders, Inborn; Hepatolenticular Degeneration; Ornithine Carbamoyltransferase Deficiency Disease; Glycogen Storage Disease
• Other Study ID Numbers: UX431-CL001

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No