Abstract: INFO06-SA
Alport Syndrome Foundation Alport Patient Registry
Session Information
- Informational Posters - 3
October 26, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- No subcategory defined
Authors
- Weinstock, B. Andre, Alport Syndrome Foundation, Phoenix, Arizona, United States
- Henderson, Joshua, Pulse Infoframe, Inc., London, Ontario, Canada
- Bonebrake, Lisa, Alport Syndrome Foundation, Phoenix, Arizona, United States
- Warady, Bradley A., Children's Mercy Kansas City, Kansas City, Missouri, United States
- Gwadry-Sridhar, Femida, Pulse Infoframe, Inc., London, Ontario, Canada
Description
The ASF (Alport Syndrome Foundation) Alport Patient Registry is an IRB-approved, decentralized, ambispective, longitudinal natural history study launched in August 2023 and open to all Alport syndrome patients who have a confirmed diagnosis. Currently, this Registry is only open to Alport syndrome patients in the US. In this poster, we highlight some of the unique attributes of the Registry which make it an important tool for clinical and fundamental research in Alport syndrome. Beyond genotypical, phenotypical, and stage-of-disease progression data, some of these include: a patient-centered data dictionary, back-end qualified clinical validation of de-identified patient-uploaded genetic test reports to verify genetic type(s) and variant(s), pdf/jpg format audiograms collected showing hearing loss results over time, inclusion of disease specific eye conditions and pregnancy complications, and standard-of-care medication treatment and tolerance (RASi, SGLT2i) histories. The Registry is built on Pulse Infoframe’s healthie.net HIPAA compliant platform, with regulatory-grade, standardized data which allows patients and proxies of pediatric patients to directly enter health data through a Web-based interface. These data are available for view in aggregate through dynamic dashboards and the opportunity for collaboration with researchers and sponsors. The platform offers ease of use for participants, ongoing record collection every six months to monitor disease progression/symptoms/medication changes, and a library of educational resources for patients. There is future flexibility to offer participation in different languages and, potentially, expansion to other countries. The latest enrollment numbers and statistics related to diversity of ages, stages of disease, ethnicity, genetic types and more are shown in this poster. In addition, a justification is presented for why it is believed that a patient-self-reported data collection approach is can be superior to an EMR (Electronic Medical Record) -data-mining approach for Alport syndrome specifically. Because ASF is composed primarily of Alport syndrome patients, the collaboration with Pulse Infoframe should provide an ideal combination of unique access to quality, real-time medical data in a secure and researcher-friendly data-mining format.
Funding
- Alport Syndrome Foundation