6-year treatment follow-up with an extended-release alkaline formulation (Sibnayal®) in primary distal renal tubular acidosis

Abstract Background Distal renal tubular acidosis (dRTA) is a rare disease characterized by hyperchloremic metabolic acidosis affecting growth, bone and kidney health. Methods The aim of B22CS study was to evaluate long-term safety and efficacy (anthropometric/pubertal, tubular damages/kidney functi...

Full description

Saved in:
Bibliographic Details
Main Authors: Aurélia Bertholet-Thomas, Aurélie De Mul, Julie Bernardor, Gwenaëlle Roussey-Kesler, Ludmila Podracka, Robert Novo, François Nobili, Bertrand Knebelmann, Jérôme Harambat, Emilija Golubovic, Olivia Boyer, Massimo Di Maio, Mathilde Cailliez, Véronique Baudouin, Laure Chidler, Véronique Leblanc, Justine Bacchetta
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Online Access:https://doi.org/10.1186/s13023-025-03953-4
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1849761279086952448
author Aurélia Bertholet-Thomas
Aurélie De Mul
Julie Bernardor
Gwenaëlle Roussey-Kesler
Ludmila Podracka
Robert Novo
François Nobili
Bertrand Knebelmann
Jérôme Harambat
Emilija Golubovic
Olivia Boyer
Massimo Di Maio
Mathilde Cailliez
Véronique Baudouin
Laure Chidler
Véronique Leblanc
Justine Bacchetta
author_facet Aurélia Bertholet-Thomas
Aurélie De Mul
Julie Bernardor
Gwenaëlle Roussey-Kesler
Ludmila Podracka
Robert Novo
François Nobili
Bertrand Knebelmann
Jérôme Harambat
Emilija Golubovic
Olivia Boyer
Massimo Di Maio
Mathilde Cailliez
Véronique Baudouin
Laure Chidler
Véronique Leblanc
Justine Bacchetta
author_sort Aurélia Bertholet-Thomas
collection DOAJ
description Abstract Background Distal renal tubular acidosis (dRTA) is a rare disease characterized by hyperchloremic metabolic acidosis affecting growth, bone and kidney health. Methods The aim of B22CS study was to evaluate long-term safety and efficacy (anthropometric/pubertal, tubular damages/kidney function, bone biomarkers, compliance assessments) of Sibnayal®, a prolonged-release alkalinizing formulation with twice daily dosing, in children and adults with dRTA. All patients were previously included in the pivotal B21CS study, so were already receiving Sibnayal® when included in B22CS open-label follow-up study. Results A total of 30 patients with primary dRTA (mean age:10.6 ± 6.0 years) entered this long-term study (average of 6 years). At inclusion, most patients had adequate metabolic control, normal kidney function and height. Sibnayal® was well tolerated over the study duration.The most frequent adverse event was hypovitaminosis D (13 patients). Causality to treatment was reported for only 4% of all TEAEs (6 patients) and were mostly gastrointestinal. All adverse events resolved without treatment discontinuation. Sibnayal® allowed a sustained control of metabolic acidosis as plasma bicarbonate level was 22.0 ± 3.2 mmol/L at baseline versus 22.6 ± 2.5 mmol/L at the End of Follow-up (EoF), p = NS. From baseline to EoF, mean Z-score height significantly increased (-0.6 ± 1.0 to -0.3 ± 1.0, p = 0.03), without significant change in weight and body mass index. Kidney function remained stable from baseline to EoF: estimated glomerular filtration rate = 105 ± 17 and 104 ± 20 mL/min/1.73m2, respectively, p = NS. Urinary ratios: Calcium/Creatinine (UCa/UCr), Citrate/Creatinine (UCi/UCr), Calcium/Citrate (UCa/UCi) were not significantly different between baseline and EoF (p = NS). Mean lumbar bone mineral density Z-score significantly increased from baseline (-1.1 ± 1.0) to EoF (-0.8 ± 1.0), p = 0.005, with significant improvement between baseline and EoF in pre- and post-pubertal patients (p = 0.035 and p < 0.001, respectively), whilst it was maintained in pubertal patients (p = NS). Conclusion Long-term data support the good safety and efficacy profile of Sibnayal® in the treatment of dRTA with adequate control of metabolic acidosis, stable kidney function and significant positive long-term clinical outcomes.
format Article
id doaj-art-d41b9931debb46b2832767074e6443af
institution DOAJ
issn 1750-1172
language English
publishDate 2025-08-01
publisher BMC
record_format Article
series Orphanet Journal of Rare Diseases
spelling doaj-art-d41b9931debb46b2832767074e6443af2025-08-20T03:06:05ZengBMCOrphanet Journal of Rare Diseases1750-11722025-08-0120111310.1186/s13023-025-03953-46-year treatment follow-up with an extended-release alkaline formulation (Sibnayal®) in primary distal renal tubular acidosisAurélia Bertholet-Thomas0Aurélie De Mul1Julie Bernardor2Gwenaëlle Roussey-Kesler3Ludmila Podracka4Robert Novo5François Nobili6Bertrand Knebelmann7Jérôme Harambat8Emilija Golubovic9Olivia Boyer10Massimo Di Maio11Mathilde Cailliez12Véronique Baudouin13Laure Chidler14Véronique Leblanc15Justine Bacchetta16Centre de Référence des Maladies Rénales Rares– MAREGE– Hôpital Femme Mère Enfant, Hospices Civils de Lyon– Filière ORKID (Orphan Kidney Diseases), ERK-Net (The European Rare Kidney Disease Network)Centre de Référence des Maladies Rénales Rares– MAREGE– Hôpital Femme Mère Enfant, Hospices Civils de Lyon– Filière ORKID (Orphan Kidney Diseases), ERK-Net (The European Rare Kidney Disease Network)Hôpital l’Archet, Service de Rhumatologie Pédiatrique et Médecine Interne de l’enfant, CHU de NiceHôpital Mère-Enfant, Clinique Médicale Pédiatrique, CHU de Nantes, Unité de Néphrologie et Hémodialyse PédiatriqueDepartment of Pediatrics, National Institute of Children’sService de Néphrologie Pédiatrique, Hôpital Jeanne de Flandre, CHRU de LilleHôpital Jean Minjoz, CHU de BesançonService de Néphrologie adultes, Hôpital Necker, APHPService de Pédiatrie, Hôpital Pellegrin- Enfants, CHU de BordeauxKlinički Centar NišAPHP, Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants MaladesService de Réanimation Néonatale et Néonatologie, CHU de NîmesAP-HM, Service de Pédiatrie Multidisciplinaire, Hôpital de la TimoneService de Néphrologie Pédiatrique, Hôpital Universitaire Robert Debré-APHPADVICENNEADVICENNECentre de référence des maladies rares du métabolisme du calcium et du phosphate-Hospices, Civils de Lyon-OSCAR-ERN BONDAbstract Background Distal renal tubular acidosis (dRTA) is a rare disease characterized by hyperchloremic metabolic acidosis affecting growth, bone and kidney health. Methods The aim of B22CS study was to evaluate long-term safety and efficacy (anthropometric/pubertal, tubular damages/kidney function, bone biomarkers, compliance assessments) of Sibnayal®, a prolonged-release alkalinizing formulation with twice daily dosing, in children and adults with dRTA. All patients were previously included in the pivotal B21CS study, so were already receiving Sibnayal® when included in B22CS open-label follow-up study. Results A total of 30 patients with primary dRTA (mean age:10.6 ± 6.0 years) entered this long-term study (average of 6 years). At inclusion, most patients had adequate metabolic control, normal kidney function and height. Sibnayal® was well tolerated over the study duration.The most frequent adverse event was hypovitaminosis D (13 patients). Causality to treatment was reported for only 4% of all TEAEs (6 patients) and were mostly gastrointestinal. All adverse events resolved without treatment discontinuation. Sibnayal® allowed a sustained control of metabolic acidosis as plasma bicarbonate level was 22.0 ± 3.2 mmol/L at baseline versus 22.6 ± 2.5 mmol/L at the End of Follow-up (EoF), p = NS. From baseline to EoF, mean Z-score height significantly increased (-0.6 ± 1.0 to -0.3 ± 1.0, p = 0.03), without significant change in weight and body mass index. Kidney function remained stable from baseline to EoF: estimated glomerular filtration rate = 105 ± 17 and 104 ± 20 mL/min/1.73m2, respectively, p = NS. Urinary ratios: Calcium/Creatinine (UCa/UCr), Citrate/Creatinine (UCi/UCr), Calcium/Citrate (UCa/UCi) were not significantly different between baseline and EoF (p = NS). Mean lumbar bone mineral density Z-score significantly increased from baseline (-1.1 ± 1.0) to EoF (-0.8 ± 1.0), p = 0.005, with significant improvement between baseline and EoF in pre- and post-pubertal patients (p = 0.035 and p < 0.001, respectively), whilst it was maintained in pubertal patients (p = NS). Conclusion Long-term data support the good safety and efficacy profile of Sibnayal® in the treatment of dRTA with adequate control of metabolic acidosis, stable kidney function and significant positive long-term clinical outcomes.https://doi.org/10.1186/s13023-025-03953-4
spellingShingle Aurélia Bertholet-Thomas
Aurélie De Mul
Julie Bernardor
Gwenaëlle Roussey-Kesler
Ludmila Podracka
Robert Novo
François Nobili
Bertrand Knebelmann
Jérôme Harambat
Emilija Golubovic
Olivia Boyer
Massimo Di Maio
Mathilde Cailliez
Véronique Baudouin
Laure Chidler
Véronique Leblanc
Justine Bacchetta
6-year treatment follow-up with an extended-release alkaline formulation (Sibnayal®) in primary distal renal tubular acidosis
Orphanet Journal of Rare Diseases
title 6-year treatment follow-up with an extended-release alkaline formulation (Sibnayal®) in primary distal renal tubular acidosis
title_full 6-year treatment follow-up with an extended-release alkaline formulation (Sibnayal®) in primary distal renal tubular acidosis
title_fullStr 6-year treatment follow-up with an extended-release alkaline formulation (Sibnayal®) in primary distal renal tubular acidosis
title_full_unstemmed 6-year treatment follow-up with an extended-release alkaline formulation (Sibnayal®) in primary distal renal tubular acidosis
title_short 6-year treatment follow-up with an extended-release alkaline formulation (Sibnayal®) in primary distal renal tubular acidosis
title_sort 6 year treatment follow up with an extended release alkaline formulation sibnayal r in primary distal renal tubular acidosis
url https://doi.org/10.1186/s13023-025-03953-4
work_keys_str_mv AT aureliabertholetthomas 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT aureliedemul 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT juliebernardor 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT gwenaellerousseykesler 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT ludmilapodracka 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT robertnovo 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT francoisnobili 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT bertrandknebelmann 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT jeromeharambat 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT emilijagolubovic 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT oliviaboyer 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT massimodimaio 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT mathildecailliez 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT veroniquebaudouin 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT laurechidler 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT veroniqueleblanc 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis
AT justinebacchetta 6yeartreatmentfollowupwithanextendedreleasealkalineformulationsibnayalinprimarydistalrenaltubularacidosis