AspartylglucosaminuriaPhase 1/2NCT07530796
Safety and Efficacy of scAAV9/AGA Gene Therapy in Participants With Aspartylglucosaminuria (AGU)
A Phase 1/2 study testing scAAV9/AGA in people with Aspartylglucosaminuria and Aspartylglucosamidase (AGA) Deficiency, run by Rare Trait Hope at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 4 to 45 years
- Conditions the study is for
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency
- What is being tested?
- scAAV9/AGA
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 9 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Nov 2026to 1 Jul 2032
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 to 45 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
Louisiana State University Health Sciences Center
Shreveport, Louisiana, 71101
About this study
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)
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).
Read the 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.
- Being tested
- scAAV9/AGA
- Keywords
- Aspartylglucosaminuria, AAV9, Aspartylglucosaminuria (AGU), Aspartylglucosamidase (AGA) Deficiency
- Medical subject headings
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
scAAV9/AGAGenetic
Also called Danagalex
Danagalex, a self-complementary adeno-associated Virus Serotype 9 (AAV9) vector-mediated gene transfer of codon optimized human AGA gene, administered via intrathecal injection
| Study group | Role | What they receive |
|---|---|---|
| DANAGALEX (scAAV9/AGA) Gene Therapy | Experimental | Cohort 1: adults aged 18-45 years; Cohort 2: adolescents aged 12-17 years; Cohort 3: children aged 4-11 years. All participants receive a single dose of DANAGALEX (scAAV9/AGA). Progression to younger cohorts is subject to protocol-defined safety observation and DSMB review. Receives: Genetic: scAAV9/AGA |
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence, severity, and causality 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)
Measured: Through Day 720
Secondary outcomes (3)
Biologic activity following a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU)
Change from baseline in glycoasparagine (GlcNAc-Asn) levels
Measured: Days 360 and 720
Biologic activity following a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU)
Change from baseline in AGA enzyme activity
Measured: Days 360 and 720
Preliminary efficacy following a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU)
Change from baseline in functional parameters (NIH Toolbox Motor Function assessments)
Measured: Days 360 and 720
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Apr 2026
- Study start1 Nov 2026 (estimated)
- Primary completion1 Jul 2031 (estimated)
- Study completion1 Jul 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AspartylglucosaminuriaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Sequential
- Model description
- Three age-stratified cohorts (1. 18+ years of age; 2. 12-17; 3. 4-11), with optional expansion.
- Masking
- None (open label)
- Enrolment
- 9 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Rare Trait Hope
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07530796
- Sponsor's protocol ID
- 2013-AGU
- Status last verified
- Apr 2026
- First submitted
- 1 Apr 2026
- Last updated
- 27 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Yes: De-identified individual participant data supporting published findings will be shared where permitted by informed consent and adequate privacy protections. Data may include clinical, biochemical, imaging, and caregiver-reported outcomes. Sharing may be restricted to protected derived data or aggregate findings where re-identification risk cannot be adequately controlled.
Study at a glance
From the registry record, last updated by the sponsor on 27 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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)
- ClinicalTrials.gov ID
- NCT07530796
- Acronym / sponsor ID
- 2013-AGU
- Keywords
- Aspartylglucosaminuria, AAV9, Aspartylglucosaminuria (AGU), Aspartylglucosamidase (AGA) Deficiency
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 9 participants (estimated)
- Lead sponsor
- Rare Trait HopeUniversity, hospital or other
- Study start
- 1 Nov 2026 (estimated)
- Primary completion
- 1 Jul 2031 (estimated)
- Study completion
- 1 Jul 2032 (estimated)
- First posted
- 15 Apr 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Three age-stratified cohorts (1. 18+ years of age; 2. 12-17; 3. 4-11), with optional expansion.
| Arm | Type | Receives |
|---|---|---|
| DANAGALEX (scAAV9/AGA) Gene Therapy | Experimental | Genetic: scAAV9/AGACohort 1: adults aged 18-45 years; Cohort 2: adolescents aged 12-17 years; Cohort 3: children aged 4-11 years. All participants receive a single dose of DANAGALEX (scAAV9/AGA). Progression to younger cohorts is subject to protocol-defined safety observation and DSMB review. |
Who may qualify
- Ages
- 4 to 45 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (8 listed)
- 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;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| scAAV9/AGAAlso: DanagalexDanagalex, a self-complementary adeno-associated Virus Serotype 9 (AAV9) vector-mediated gene transfer of codon optimized human AGA gene, administered via intrathecal injection | Genetic | DANAGALEX (scAAV9/AGA) Gene Therapy |
Primary outcome
Incidence, severity, and causality of a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU)
Time frame: Through Day 720
Incidence, severity, and causality of treatment-emergent adverse events (TEAEs), treatment-emergent serious adverse events (TESAEs), and adverse events of special interest (AESIs)
3 secondary outcomes
Biologic activity following a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU)
Time frame: Days 360 and 720
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Oct 2026.
- Individual participant dataSharing planned: Yes. De-identified individual participant data supporting published findings will be shared where permitted by informed consent and adequate privacy protections. Data may include clinical, biochemical, imaging, and caregiver-reported outcomes. Sharing may be restricted to protected derived data or aggregate findings where re-identification risk cannot be adequately controlled.
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Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing scAAV9/AGA in people with Aspartylglucosaminuria and Aspartylglucosamidase (AGA) Deficiency, run by Rare Trait Hope at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 27 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence, severity, and causality of a single dose of scAAV9/AGA in participants with aspartylglucosaminuria (AGU) (time frame: Through Day 720). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Oct 2026.