Abstract: SA-PO787
Prevalence of APOL1 Variants in Persons with Proteinuric CKD
Session Information
- Genetic Diseases: Glomerulopathies - II
November 04, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Bramham, Kate, King's College London, London, United Kingdom
- Knebelmann, Bertrand, Necker Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Université Paris Cité, Paris, France
- Audard, Vincent, Nephrology and Renal Transplantation Department, Institut National de la Santé et de la Recherche Médicale (INSERM) U955, Henri Mondor Hospital, AP-HP, Paris Est Créteil University, Créteil, France
- Boffa, Jean-Jacques, Hopital Tenon, Paris, France
- Echeverri, Diego, South Florida Nephrology Associates, Lauderdale Lakes, Florida, United States
- Mccafferty, Kieran, Bart’s Health NHS Trust, London, United Kingdom
- Powell, Thomas, Columbia Nephrology Associates, Columbia, South Carolina, United States
- Provenzano, Christopher, St. Clair Nephrology, Detroit, Michigan, United States
- Shahid, Nauman, Eastern Nephrology Associates, Greenville, North Carolina, United States
- Zaidan, Mohamad, Nephrology and Renal Transplantation Department, Bicêtre University Hospital, AP-HP, Paris Saclay University, Le Kremlin-Bicêtre, France
- Urena Torres, Pablo A., Department of Dialysis AURA Nord Saint Ouen, Saint-Ouen, France
- Mastroianni-kirsztajn, Gianna, Universidade Federal de São Paulo, São Paulo, Brazil
- Zamauskaite, Aurelia, Vertex Pharmaceuticals Incorporated, Boston, Massachusetts, United States
- Delestre-Levai, Irisz K., Vertex Pharmaceuticals Incorporated, Boston, Massachusetts, United States
- Bauman, John, Labcorp Drug Development, Morrisville, North Carolina, United States
- Yang, Yuan, Vertex Pharmaceuticals Incorporated, Boston, Massachusetts, United States
- Krause, Silva, Vertex Pharmaceuticals Incorporated, Boston, Massachusetts, United States
- Ferreira, Anna, Vertex Pharmaceuticals Incorporated, Boston, Massachusetts, United States
- Egbuna, Ogo I., Vertex Pharmaceuticals Incorporated, Boston, Massachusetts, United States
- Chertow, Glenn, Stanford University School of Medicine, Palo Alto, California, United States
Background
APOL1 variants (G1 or G2) are the genetic cause of progressive, proteinuric nephropathies referred to as APOL1-mediated kidney disease (AMKD). The prevalence of APOL1 variants, which are common in persons of recent African ancestry, is not well known as APOL1 genotyping is not routine in kidney disease care. We report data from a new interim analysis on the prevalence of APOL1 genotypes in proteinuric chronic kidney disease (CKD).
Methods
This ongoing global study is enrolling up to 2500 participants of recent African ancestry with FSGS or proteinuric (UPCR >0.5 g/g) nondiabetic kidney disease (NDKD) to determine the percent of participants with 2 APOL1 variants, including by genotype category, and identify potential participants for trials evaluating APOL1 therapies. During a single visit, a blood sample is collected to determine the APOL1 genotype (validated PCR assay); genetic counseling is available.
Results
Interim analysis included 1463 participants. Among 392 participants with FSGS and 1071 with NDKD, 184 (46.9%) and 248 (23.2%) have 2 APOL1 variants, respectively (Table). Most participants with 2 APOL1 variants and proteinuric CKD are >30 to ≤60 years old (n=321/432; 74.3%).
Conclusion
The high prevalence of 2 APOL1 variants in participants with recent African ancestry and proteinuric CKD emphasizes the importance of APOL1 genotyping in kidney disease care to inform disease management and enable referral for clinical trials of APOL1-targeted therapies.
Funding
- Commercial Support – Vertex Pharmaceuticals Incorporated