Abstract: INFO07-FR
Capturing Real-World Data on the Complexity of Alport Syndrome
Session Information
- Informational Posters - 2
October 23, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- No subcategory defined
Authors
- Aberle, Makabe, Alport Syndrome Foundation, Phoenix, Arizona, United States
- Coolidge, Kathleen, Pulse Infoframe, London, Ontario, Canada
- Henderson, Joshua, Pulse Infoframe, London, Ontario, Canada
- Bonebrake, Lisa, Alport Syndrome Foundation, Phoenix, Arizona, United States
- Gwadry-Sridhar, Femida, Pulse Infoframe, London, Ontario, Canada
Description
Alport Syndrome (AS) is a progressive hereditary nephropathy caused by pathogenic variants in COL4A3, COL4A4, or COL4A5, encoding the α3, α4, and α5 chains of type IV collagen. Despite its recognized clinical significance, longitudinal real-world data on the syndrome remain limited. Alport Syndrome Foundation's ASF Alport Patient Registry was established to address this gap through patient-reported data designed to complement clinical and research datasets and support the broader Alport research ecosystem.
The ASF Alport Patient Registry utilizes the Pulse Infoframe Healthie platform, enabling the longitudinal structured collection of data mapped to Observational Medical Outcomes Partnership. The registry is ambispective, capturing data across multiple domains relevant to AS disease characterization and monitoring. Most recently, specific studies have enabled participants to enter specific retrospective data to better inform the phenotypic and clinical biomarkers collected available over their lifetime. Enrolled participants self-report demographic information, genetic testing results including variant classification, family history, and clinical diagnoses. The registry provides serial laboratory values, enabling longitudinal tracking of kidney function over time. Participants can report treatment history, including medications as they become available for chronic kidney disease and are prescribed off-label for Alport syndrome. Patients can also provide data on extrarenal manifestations including audiological, pregnancy-related, and ocular findings. Hearing loss, pregnancy complications, and ocular abnormalities, historically understudied in the AS literature, are captured systematically, supporting characterization of the full extrarenal phenotype across genotypes.
Patient-reported registries offer methodological advantages in rare disease research. Unlike clinic-based cohorts, which are subject to various biases, and while patient-facing registries depend on patient access, they provide a broader representation of the community. This approach is particularly relevant for autosomal dominant AS, where population-average risk estimates from tertiary care cohorts may inadequately capture individual disease trajectories. The ASF Alport Patient Registry provides rich, patient reported data across all the relevant aspects of AS including the genetic, renal, and extrarenal manifestations of the disease.
Funding
- Alport Syndrome Foundation