Menu
Not yet recruiting NCT07530796

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

Phase I / Phase II Interventional Aspartylglucosaminuria Aspartylglucosamidase (AGA) Deficiency

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: scAAV9/AGA.
Who it may be relevant to
Registry conditions: Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency. Basic parameters: 4 years — 45 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Center list to be confirmed — check the primary protocol.
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

An Open-Label, Single Center, Phase 1/2 Study to Evaluate the Safety and Efficacy of DANAGALEX (scAAV9/AGA) in Participants With Aspartylglucosaminuria (AGU)

Overview

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).

Detailed description

This study is a first in human (FIH) open-label study designed to assess the safety and efficacy of administration of an adeno-associated viral vector serotype 9 (AAV9) carrying the gene encoding aspartylglucosaminidase (AGA) in participants with Aspartylglucosaminuria (AGU). Safety will be monitored continuously throughout the study for adverse / serious adverse events and dose limiting toxicities. All outcomes (primary, secondary, exploratory) will be assessed at 52 and 104 weeks.

Interventions

  • Genetic scAAV9/AGA
    Danagalex, a self-complementary adeno-associated Virus Serotype 9 (AAV9) vector-mediated gene transfer of codon optimized human AGA gene, administered via intrathecal injection

Primary outcome measures

  • Safety and tolerability of a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU) [Time frame: Through Day 720]
Secondary outcome measures (2)
  • Biologic activity following a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU) [Time frame: Days 360 and 720]
  • Preliminary efficacy following a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU) [Time frame: Days 360 and 720]

Eligibility criteria

Inclusion criteria

  • 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.

Exclusion criteria

  • 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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
N/A
Model
Sequential
Masking
Open label
Primary purpose
Treatment

Study locations

Center list to be confirmed — check the primary protocol.

Identifiers

NCT: NCT07530796 · 2013-AGU

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗