Abstract: TH-PO0625
Clinical Characteristics and Disease Progression Among Nondiabetic Patients with APOL1-Mediated Kidney Disease (AMKD) and Patients with Other Forms of CKD
Session Information
- Genetic Diseases of the Kidneys: Complex Kidney Traits
November 06, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Complex Kidney Traits
Authors
- Shah, Ankit, Vertex Pharmaceuticals Incorporated, Boston, Massachusetts, United States
- Maski, Manish, Vertex Pharmaceuticals Incorporated, Boston, Massachusetts, United States
- Goldschmidt, Debbie, Analysis Group Inc, Boston, Massachusetts, United States
- Egbuna, Ogo I., Vertex Pharmaceuticals Incorporated, Boston, Massachusetts, United States
- Holub, Ashley, Analysis Group Inc, Boston, Massachusetts, United States
- Swallow, Elyse E, Analysis Group Inc, Boston, Massachusetts, United States
- Barber, Beth, Vertex Pharmaceuticals Incorporated, Boston, Massachusetts, United States
Background
AMKD is an aggressive, genetic form of CKD. Increased genetic testing and emerging treatment options create a need for improved understanding of disease burden among AMKD patients. This study describes characteristics of non-diabetic patients with AMKD and compares their disease progression to non-diabetic patients with other forms of CKD.
Methods
This was a retrospective observational cohort study using linked electronic health records (EHR) from Vanderbilt University Medical Center and APOL1 genotyping data from Nashville Biosciences genetic repository. Non-diabetic patients with CKD diagnosis codes were included. AMKD and CKD cohorts were defined based on the presence of 2 APOL1 risk alleles. Index date was defined as the first CKD diagnosis. To assess disease progression, patients were matched 1:1 on CKD stage at index to minimize any confounding from baseline CKD severity and were followed until the last observation in the data. Kaplan Meier curves and Cox proportional hazards models were used to compare disease progression between matched cohorts.
Results
The study included 645 AMKD and 6,749 CKD patients. AMKD patients were 17 years younger than the CKD patients at index (median age: 44 vs 61 yrs) and had lower comorbidity burden such as hypertension, hyperlipidemia and arrhythmia. Additionally, AMKD patients had higher rates of end-stage kidney disease (ESKD) at index (59% vs. 24%, p<0.001). Among 1:1 CKD stage-matched patients, AMKD patients reached dialysis and kidney transplant significantly faster than CKD patients (both p<0.001). By 10 years post-index, the dialysis and transplant rates were 56% and 67% higher respectively for AMKD patients than CKD patients. Furthermore, among patients earlier in the course of the disease (without ESKD at index, n=264), AMKD patients progressed to ESKD, dialysis and kidney transplant significantly faster than CKD patients (all p<0.01).
Conclusion
Despite patients with AMKD being significantly younger and having fewer comorbidities than patients with other forms of CKD, they displayed more rapid disease progression. These results emphasize the severe disease burden of AMKD and the need for AMKD-specific treatment options.