AspartylglucosaminuriaNCT07903402
AGU Registry and NHS
An observational study of Aspartylglucosaminuria and Aspartylglucosamidase (AGA) Deficiency, run by Rare Trait Hope at 1 site in United States.
Trial summary
The Aspartylglucosaminuria (AGU) Registry and Natural History Study (AGU Registry) aims to gain a more comprehensive understanding of Aspartylglucosaminuria (AGU) disease through an in-depth understanding of the disease progression in global patient population and burden of the disease on the family and caretakers. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Nov 2024to 29 Nov 2036
- How long will I take part?
- 10 Years
- Phase
- Observational
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals of any age who have AGU diagnosis
Who may be able to join
- Have molecularly confirmed diagnosis of AGU disease by Genomic DNA mutation
- Have a confirmation of AGU disease determined through urine or blood tests
- The participant or the participant's LARs or Designated Representatives are able to understand the nature, scope, and possible consequences of the study
- The participant or LARs or Designated Representatives agree to comply with web-based, protocol-defined study procedures and data collections
Who cannot join
- Person signing the study consent is unable to read and understand English (French, Spanish, Finnish and other languages as available and applicable)
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, 1 recruiting
- Recruiting
Agu.Iamrare.Org
New Orleans, Louisiana, 70174
Study Principal Investigator, 504-408-1126, registry@raretrait.org
About this study
Official title: Aspartylglucosaminuria (AGU) Registry and Natural History Study (AGU Registry).
The Aspartylglucosaminuria (AGU) Registry and Natural History Study (AGU Registry) aims to gain a more comprehensive understanding of Aspartylglucosaminuria (AGU) disease through an in-depth understanding of the disease progression in global patient population and burden of the disease on the family and caretakers.
Read the detailed description
The primary objective of the Aspartylglucosaminuria (AGU) Registry and Natural History Study (AGU Registry) is to conduct a prospectively planned and efficient natural history study of Aspartylglucosaminuria (AGU) that will lead to a better understanding of the disease, its progression over time and variance among different populations. Secondary objectives of the registry are:
- To provide a convenient online platform for participants (or caregivers) to self-report cases of Aspartylglucosaminuria (AGU).
- To develop a contact registry within the AGU Registry (e.g., to notify participants of research studies and clinical trials).
- To characterize and describe the population affected by AGU, enhancing the understanding of disease prevalence, phenotype, and the rate of progression of signs and symptoms over time.
- To help develop recommendations and standards of care for the AGU community.
- To serve as a resource for researchers studying the pathophysiology of AGU, evaluating intervention outcomes retrospectively, or designing prospective trials of novel treatments.
- Keywords
- AGU, Aspartylglucosaminuria, Registry, Natural History Study
- Medical subject headings
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) deficiency
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants With Each Reported AGU Sign or Symptom
Number and percentage of participants with each AGU sign or symptom reported through registry surveys by participants or their representatives. Each sign or symptom will be summarized separately at baseline and subsequent assessments to describe its frequency over time.
Measured: Baseline and at least annually for up to 5 years.
Age at First Reported AGU Symptoms
Age in years at the first reported AGU symptoms, calculated from date of birth and reported symptom-onset date.
Measured: Baseline
Age at AGU Diagnosis
Age in years at diagnosis, calculated from date of birth and reported diagnosis date.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Oct 2026
- Study start29 Nov 2024
- Primary completion29 Nov 2034 (estimated)
- Study completion29 Nov 2036 (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
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 300 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Rare Trait Hope
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07903402
- Sponsor's protocol ID
- RTHF-AGU-NHS
- Status last verified
- Apr 2026
- First submitted
- 2 Apr 2026
- Last updated
- 29 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Aspartylglucosaminuria (AGU) Registry and Natural History Study (AGU Registry).
- ClinicalTrials.gov ID
- NCT07903402
- Acronym / sponsor ID
- RTHF-AGU-NHS
- Keywords
- AGU, Aspartylglucosaminuria, Registry, Natural History Study
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Rare Trait HopeUniversity, hospital or other
- Study start
- 29 Nov 2024 (actual)
- Primary completion
- 29 Nov 2034 (estimated)
- Study completion
- 29 Nov 2036 (estimated)
- First posted
- 29 Oct 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 Aspartylglucosaminuria (AGU) Registry and Natural History Study (AGU Registry) aims to gain a more comprehensive understanding of Aspartylglucosaminuria (AGU) disease through an in-depth understanding of the disease progression in global patient population and burden of the disease on the family and caretakers.
Detailed description
The primary objective of the Aspartylglucosaminuria (AGU) Registry and Natural History Study (AGU Registry) is to conduct a prospectively planned and efficient natural history study of Aspartylglucosaminuria (AGU) that will lead to a better understanding of the disease, its progression over time and variance among different populations. Secondary objectives of the registry are:
- To provide a convenient online platform for participants (or caregivers) to self-report cases of Aspartylglucosaminuria (AGU).
- To develop a contact registry within the AGU Registry (e.g., to notify participants of research studies and clinical trials).
- To characterize and describe the population affected by AGU, enhancing the understanding of disease prevalence, phenotype, and the rate of progression of signs and symptoms over time.
- To help develop recommendations and standards of care for the AGU community.
- To serve as a resource for researchers studying the pathophysiology of AGU, evaluating intervention outcomes retrospectively, or designing prospective trials of novel treatments.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 10 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals of any age who have AGU diagnosis
Key inclusion criteria (4 listed)
- Have molecularly confirmed diagnosis of AGU disease by Genomic DNA mutation
- Have a confirmation of AGU disease determined through urine or blood tests
- The participant or the participant's LARs or Designated Representatives are able to understand the nature, scope, and possible consequences of the study
- The participant or LARs or Designated Representatives agree to comply with web-based, protocol-defined study procedures and data collections
Key exclusion criteria (1 listed)
- Person signing the study consent is unable to read and understand English (French, Spanish, Finnish and other languages as available and applicable)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of Participants With Each Reported AGU Sign or Symptom
Time frame: Baseline and at least annually for up to 5 years.
Number and percentage of participants with each AGU sign or symptom reported through registry surveys by participants or their representatives. Each sign or symptom will be summarized separately at baseline and subsequent assessments to describe its frequency over time.
Age at First Reported AGU Symptoms
Time frame: Baseline
Age in years at the first reported AGU symptoms, calculated from date of birth and reported symptom-onset date.
Age at AGU Diagnosis
Time frame: Baseline
Age in years at diagnosis, calculated from date of birth and reported diagnosis date.
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 29 Oct 2026.
- Join the studyLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of 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 4 inclusion and 1 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: looking for participants now, as of the sponsor's last update on 29 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.
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?
Contact Study Principal Investigator (504-408-1126, registry@raretrait.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants With Each Reported AGU Sign or Symptom (time frame: Baseline and at least annually for up to 5 years.). The study lists 3 primary outcomes in all. 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 29 Oct 2026.