TY - JOUR
T1 - Primary hyperoxaluria type 1—current practice in the siRNA era
T2 - an ERA Genes & Kidney Working Group survey
AU - Bartram, Malte P.
AU - Capasso, Giovambattista
AU - Cornec-Le Gall, Emilie
AU - Deesker, Lisa J.
AU - van Eerde, Albertien M.
AU - Figueres, Lucile
AU - Perez Gomez, Maria Vanessa
AU - Groothoff, Jaap
AU - Oubram, Laila
AU - Halbritter, Jan
AU - Hoorn, Ewout J.
AU - Nijenhuis, Tom
AU - Sayer, John A.
AU - Beck, Bodo B.
AU - Müller, Roman Ulrich
AU - the PH1 Survey Study Group
A2 - Bonny, Olivier
A2 - Stabouli, Stella
A2 - Kopa?, Matjaž
A2 - Torres, Diletta Domenica
A2 - Kigitoviča, Dana
A2 - Prkacin, Ingrid
A2 - Snelling, Paul
A2 - Forbes, Thomas
A2 - Johnstone, Lilian
A2 - Trbojevic-Stankovic, Jasna
A2 - Capelli, Irene
A2 - Nicholls, Kathy
A2 - Beck, Bodo
A2 - van der Cingel, Gerlineke Hawkins
A2 - Gall, Emilie Cornec Le
A2 - Sayer, John
A2 - Fistrek, Margareta
A2 - Lamot, Lovro
A2 - Gomez, Maria Vanessa Perez
A2 - Capolongo, Giovanna
A2 - Teran, Melissa Pilco
A2 - Fernández, Saulo
A2 - Agudo, Rebeca Garcáa
A2 - Castro-Alonso, Cristina
A2 - Carrillo, R. Echarri
A2 - Alonso, Fernanda Arrojo
A2 - Arango-Sancho, Pedro
A2 - Ariceta, Gema
A2 - Muáiz, Laura
A2 - Torres, Armando
A2 - Párez, Mario
A2 - Zakrocka, Izabela
A2 - Putnik, Jovana
A2 - Furlano, Mánica
A2 - Navarro, Beatriz Redondo
A2 - Brinar, Ivana Vukovic
A2 - Tschumi, Sibylle
A2 - Ritter, Alexander
A2 - Gjerstad, Ann Christin
A2 - Rroji, Merita
A2 - Spahia (Zeneli), Nereida
A2 - Cule, Elda
A2 - Kasa, Marsida
A2 - Isotani, Shuji
A2 - Hamamoto, Shuzo
A2 - Miyazawa, Katsuhito
A2 - Iyasere, Osasuyi
A2 - Wanner, Christoph
A2 - Karakizlis, Hristos
A2 - Dominguez, Leire Madariaga
A2 - Hosek, Nicola
A2 - Lopez-Garcia, Sergio Camilo
A2 - Printza, Nikoleta
A2 - Mathew, Georgie
A2 - Elamin, Mugahid
A2 - Delean, Dan
A2 - Baya, Guerd
A2 - van Rooij, R. W.G.
A2 - Arbeiter, Klaus
A2 - Longo, Germana
A2 - Chan, Eugene Yu Hin
A2 - Costin, Mariana
A2 - P?narba??, Ay?e Seda Lumbreras, Javier
A2 - Dursun, Ismail
A2 - Alqaoud, Doaa
A2 - Bald, Martin
A2 - Sladowska, Joanna
A2 - Paripovic, Aleksandra
A2 - D'Alessandro, Maria Michela
A2 - Schreuder, Michiel
A2 - Peruzzi, Licia
A2 - Spasojevic, Brankica
A2 - Collard, Laure
A2 - Doerry, Katja
A2 - Jourde-Chiche, Noémie
A2 - Robert, Thomas
A2 - Stehlé, Thomas
A2 - Knebelmann, Bertrand
A2 - Michon-Colin, Arthur
A2 - Brousse, Romain
A2 - Yamashita, Shimpei
A2 - Alexandra, Cambier
A2 - Taroni, Francesca
A2 - Preka, Evgenia
A2 - Cloarec, Sylvie
A2 - DeBattista, Nadine Anne
A2 - Sellier-Leclerc, Anne Laure
A2 - Harambat, Jerome
A2 - Choukroun, Gabriel
A2 - Rostaing, Lionel
A2 - Mizzi-Rozier, Marie
A2 - Weitz, Marcus
A2 - Parpovi?, Duáan
N1 - Publisher Copyright:
© The Author(s) 2026. Published by Oxford University Press on behalf of the ERA. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected]
PY - 2026/7
Y1 - 2026/7
N2 - Background: 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. Methods: 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. Results: 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. Conclusion: 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.
AB - Background: 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. Methods: 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. Results: 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. Conclusion: 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.
KW - genetic kidney disease
KW - lumasiran
KW - nephrolithiasis
KW - primary hyperoxaluria type 1
KW - siRNA therapy
UR - https://www.scopus.com/pages/publications/105043545903
U2 - 10.1093/ckj/sfag162
DO - 10.1093/ckj/sfag162
M3 - Article
AN - SCOPUS:105043545903
SN - 2048-8505
VL - 19
JO - Clinical Kidney Journal
JF - Clinical Kidney Journal
IS - 7
M1 - sfag162
ER -