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Abstract: FR-PO1001

Quality of Life Changes as Measured with SF-36 in Patients with Alport Syndrome: Results from the ATHENA Natural History Study in Alport Syndrome Patients

Session Information

Category: Genetic Diseases of the Kidney

  • 1002 Genetic Diseases of the Kidney: Non-Cystic

Authors

  • Simon, James F., Cleveland Clinic, Cleveland, Ohio, United States
  • Deeg, Mark, Regulus Therapeutics, San Diego, California, United States
  • Guner, Jale, Regulus Therapeutics, San Diego, California, United States
  • Gross, Oliver, University Medicine Goettingen, Goettingen, Germany
  • Knebelmann, Bertrand, Necker Hopsital, Paris, France
  • Kashtan, Clifford E., University of Minnesota, Minneapolis, Minnesota, United States
  • Rheault, Michelle N., University of Minnesota, Minneapolis, Minnesota, United States
Background

Alport Syndrome (AS) is a rare genetic disorder caused by mutations in genes coding for type IV collagen (COL4) α3, α4 and α5 proteins leading to hematuria, renal failure, hearing loss and eye involvement. CKD is associated with progressively worse quality of life (QOL) scores. The presence of a progressive genetic disease can also impact QOL. QOL in patients with AS has not previously been reported.

Methods

ATHENA (NCT02136862) was an international multi-center observational cohort study designed to characterize the progression of renal dysfunction in subjects with AS. Patients were followed for up to 24 months with serial evaluations. An SF-36 questionnaire was completed at baseline and every 24 weeks. The change in SF-36 score over time was modeled using mixed model repeated measures. The models incorporated baseline score, time in weeks, and subgroup indicators.

Results

165 patients were enrolled. The study population is described elsewhere. For the entire cohort, the baseline score for physical component summary was 52.5; mental component summary was 49.7. Five domains decreased (p<0.05) during the study: general health, role limitations due to physical health, mental health, role limitations due to emotional problems and social functioning. The mental component summary was lower in females, those with X-linked mutations, and eGFR>60ml/min/1.73m2. These three groups were more likely to have domain scores decrease with time. The only significant domain difference between subgroups was general health which was lower in females and those with eGFR>60 ml/min/1.73m2.

Conclusion

In patients with AS, QOL scores using the SF-36 are low and decrease with time. Lower baseline eGFR is associated with lower QOL. Women, those with X-linked mutations and with eGFR>60 ml/min/1.73m2 showed significantly greater decreases in QOL scores over time.

Funding

  • Commercial Support – Regulus Therapeutics