Primary hyperoxaluria type 1 (PH1) is a rare inherited metabolic disorder leading to the formation of kidney stones, nephrocalcinosis, and kidney failure. Besides, PH1 poses the risk of developing systemic oxalosis, a life-threatening condition with oxalate deposits in multiple organ systems. The rarity of the disorder combined with recent major additions to therapeutic options based on small interfering RNA (siRNA) therapeutics make a formal assessment of current practice and implementation of treatment recommendations an important asset.
An international questionnaire survey was conducted among medical doctors involved in the treatment of patients with chronic kidney disease. The survey included 32 questions addressing demographics, diagnostics and therapeutics, and educational needs related to the care for PH1 patients.
176 participants from 43 countries completed the survey, the majority of them were from Europe. The results indicate clear shortcomings in the availability of recommended diagnostics, especially with regards to plasma oxalate. Genetic testing strategies often do not include patients who may have PH1, e.g. when the underlying cause of kidney failure is unknown or in patients with nephrolithiasis or nephrocalcinosis. Treatment modalities are only partly harmonized and intensified dialysis is not fully implemented across centers. Strategies toward combination of conventional therapeutics such as hyperhydration and pyridoxine with new siRNA therapeutics depend on the treating physician's expertise. The survey identifies clear needs regarding implementation of current treatment recommendations as well as important educational gaps.
The advent of targeted treatment opportunities for PH1 comes with an increased need to provide guidance to the field. Filling the existing gaps will ensure that a growing number of patients get access to optimal care and novel life-changing therapies.
Clinical kidney journal. 2026 May 25*** epublish ***
Malte P Bartram, Giovambattista Capasso, Emilie Cornec-Le Gall, Lisa J Deesker, Albertien M van Eerde, Lucile Figueres, Maria Vanessa Perez Gomez, Jaap Groothoff, Laila Oubram, Jan Halbritter, Ewout J Hoorn, Tom Nijenhuis, John A Sayer, Bodo B Beck, Roman-Ulrich Müller, PH1 Survey Study Group , PH1 Survey Study Group
Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Department of Medical Translational Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Department de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de référence MARHEA, Filière ORKID, CHRU Brest, Brest, France., Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Department of Genetics, University Medical Centre Utrecht,, Utrecht, The Netherlands., Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, ITUN, Nantes, France., Department of Nephrology and Hypertension, IIS-Fundación Jiménez Díaz UAM, Madrid, Spain., Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin, Berlin, Berlin, Germany., Department of Internal Medicine, Division of Nephrology and Transplantation, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, The Netherlands., Department of Nephrology, Research Institute for Medical Innovation, Radboudumc Center of Expertise for Rare Kidney Diseases, Radboud University Medical Center, Nijmegen, The Netherlands., Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, UK., Center for Rare Diseases Cologne, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.