Recruiting

Observational Study

Sponsor:

Rare Trait Hope

Code:

NCT07903402

Conditions

Aspartylglucosaminuria

Aspartylglucosamidase (AGA) Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Aspartylglucosaminuria

Aspartylglucosamidase (AGA) Deficiency

Study ID

NCT07903402

Start date

Nov 29, 2024

Status verified date

Apr, 2026

Completion date

Nov 29, 2036

Anticipated

Primary completion date

Nov 29, 2034

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • Person signing the study consent is unable to read and understand English (French, Spanish, Finnish and other languages as available and applicable)

Study Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

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. ]
  • Age at First Reported AGU Symptoms [ Time Frame: Baseline ]
  • Age at AGU Diagnosis [ Time Frame: Baseline ]

Central Contacts and Locations

Central contacts

Study Principal Investigator

504-408-1126registry@raretrait.org

Locations

Agu.Iamrare.Org

Recruiting

New Orleans, Louisiana, United States, 70174

Contacts

Study Principal Investigator

504-408-1126registry@raretrait.org

More Information

Sponsor

Rare Trait Hope

Last update posted

Oct 29, 2026

Last verified

Apr, 2026

Keywords

  • AGU
  • Aspartylglucosaminuria
  • Registry
  • Natural History Study

Trial information was received from ClinicalTrials.gov and was last updated on 2026-10-30. This information was provided to ClinicalTrials.gov by Rare Trait Hope on 2026-10-29. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.