Safety and Efficacy of scAAV9/AGA Gene Therapy in Participants With Aspartylglucosaminuria (AGU)

NCT07530796 | Not Yet Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: 2013-AGU
• Study Type: interventional
• Target: 9
• Locations: 0 countries
• Sites: N/A

Brief Summary

The goal of this clinical trial is to learn if the treatment is a safe, tolerable, and efficacious treatment for adults and children with Aspartylglucosaminuria (AGU).

Conditions

Aspartylglucosaminuria; Aspartylglucosamidase (AGA) Deficiency

Keywords

Aspartylglucosaminuria; AAV9; Aspartylglucosaminuria (AGU); Aspartylglucosamidase (AGA) Deficiency

Outcome Measures

Primary Outcomes (1)

• Safety and tolerability of a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU)

  Incidence, severity, and causality of treatment-emergent adverse events (TEAEs), treatment-emergent serious adverse events (TESAEs), and adverse events of special interest (AESIs)

  Through Day 720

Secondary Outcomes (2)

• Biologic activity following a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU)

  Days 360 and 720

• Preliminary efficacy following a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU)

  Days 360 and 720

Study Arms (1)

Treatment

EXPERIMENTAL

Cohort 1: 18+ years old, Cohort 2: 12-17 years old, then Cohort 3: 4-11 years old

Genetic: scAAV9/AGA

Interventions

scAAV9/AGA GENETIC

Danagalex, a self-complementary adeno-associated Virus Serotype 9 (AAV9) vector-mediated gene transfer of codon optimized human AGA gene, administered via intrathecal injection

Also known as: Danagalex

Treatment

Eligibility Criteria

• Age: 4 Years - 45 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Documented molecular diagnosis of AGU (e.g., whole exome sequencing, whole genome sequencing, gene panel, single-gene sequencing, or chromosomal microarray) identifying two pathogenic and/or likely pathogenic variants in the AGA gene
• The participant, or the participant's parent or legal guardian, is registered in the AGU Natural History Study
• The participant, or the participant's parent, legal guardian, or caregiver are willing and able to travel to the study site and complete all aspects of the study, adhere to the study visit schedule, and comply with all assessments.

You may not qualify if:

• Any prior or ongoing medical condition, clinical history, physical examination finding, cardiovascular or ECG abnormality, or laboratory result that may: (1) place the participant at undue risk during administration; (2) interfere with study treatment or follow-up compliance; or (3) confound the interpretation of study data.
• Acute illness requiring hospitalization within 6 weeks prior to Screening
• Contraindications to or unwillingness to undergo MRI, lumbar puncture (LP) or other study procedures;
• Chronic requirement for respiratory support, including invasive or non-invasive ventilation;
• Known bleeding disorders (e.g., hemophilia, von Willebrand disease) or any medical condition or treatment associated with increased bleeding risk;
• Prior treatment with a gene, cell therapy, or bone marrow replacement;
• Treatment with any investigational product (IP) within 90 days or 5 half-lives of the IP, whichever is longer, prior to screening period;
• Any condition that in the opinion of the investigator or the study medical monitor would prevent the patient from fully complying with the requirements of the study (including the corticosteroid treatment) and/or would impact or interfere with the evaluation and interpretation of patient safety or efficacy results.

Sponsors & Collaborators

• Rare Trait Hope: lead

MeSH Terms

Conditions

Aspartylglucosaminuria; Aspartylglucosamidase (AGA) deficiency

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Central Study Contacts

Clinical Director

CONTACT

504-408-1126; clinical@raretrait.com

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SEQUENTIAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Three age-stratified cohorts (1. 18+ years of age; 2. 12-17; 3. 4-11), with optional expansion.

Study Record Dates

• First Submitted: April 1, 2026
• First Posted: April 15, 2026
• Study Start: May 1, 2026
• Primary Completion (Estimated): May 1, 2029
• Study Completion (Estimated): May 1, 2032
• Last Updated: April 15, 2026

Record last verified: 2026-04