Abstract: TH-PO821
Understanding the Increased Burden of Advanced Primary Hyperoxaluria Type 1 (PH1): A Survey of Physician Experiences
Session Information
- Genetic Diseases of the Kidney - I
November 07, 2019 | Location: Exhibit Hall, Walter E. Washington Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1002 Genetic Diseases of the Kidneys: Non-Cystic
Authors
- Danese, David S., Alnylam Pharmaceuticals, Cambridge, Massachusetts, United States
- Murray, Robert S., Alnylam Pharmaceuticals, Cambridge, Massachusetts, United States
- Monpara, Amy, Alnylam Pharmaceuticals, Cambridge, Massachusetts, United States
- Ben-David, Rony, Magnolia Innovation, Hoboken, New Jersey, United States
- Crockett, Tyler W., Magnolia Innovation, Hoboken, New Jersey, United States
- Holloway, Melissa R., Magnolia Innovation, Hoboken, New Jersey, United States
- Barr, Kimberly, Magnolia Innovation, Hoboken, New Jersey, United States
- Doyle, Shannon M., Magnolia Innovation, Hoboken, New Jersey, United States
- Howie, Ken, Magnolia Innovation, Hoboken, New Jersey, United States
Background
PH1 is a genetic disorder characterized by persistent hepatic overproduction of oxalate. Oxalate crystalizes with calcium to ultimately cause renal insufficiency and multi-organ damage. As PH1 progresses, patients may require intensive dialysis, and dual liver/kidney transplant is the only option to resolve the underlying metabolic defect and replace damaged kidneys. Here we describe the disease burden of PH1 in patients who have progressed to advanced kidney disease using insights from physician interviews conducted to better understand PH1.
Methods
Select participation criteria included: physicians in practice 2+ years; active role in diagnosing, treating, or managing 1+ PH1 patient(s) within last 5 years; spend ≥50% of time in direct patient care; able to review PH1 patient records. Patient history served as basis for further probing in 60-minute interviews involving open-ended questions from a semi-structured interview guide.
Results
37 physicians reported on 54 PH1 patients. By time of diagnosis, 54% (N=29) of patients had progressed to advanced disease. Among patients with preserved renal function at diagnosis (N=25), 20% progressed to dialysis, with many others showing evidence of renal decline since diagnosis. Of all patients, 48% (N=26) required hemodialysis; of these, 47% required dialysis ≥4x/week, and 35% (N=9) required 6x/week. Patients were on dialysis for a mean of 2 (range: 0.25–6.5) years. 34% (N=19) of patients ultimately underwent transplant, typically dual liver/kidney transplant.
Conclusion
As PH1 progresses, the disease burden increases substantially, necessitating intensive dialysis and transplant. Often, patients progressed to advanced kidney disease before diagnosis, limiting opportunity to modify disease course. While intensive dialysis is intended to be a bridge to transplant, as it cannot keep pace with the oxalate overproduction and systemic deposition of oxalate that occurs at this stage, many patients spent an extended time on dialysis, which is associated with poorer outcomes. Patients require earlier diagnosis and effective therapies to prevent disease progression and the associated burden.
Funding
- Commercial Support –