Rare Trait Hope
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.
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…
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 an…
Arctuva estimate
Actual pay is set by the research site.
Verify or correct the compensation shown for this listing.