Lisa J. Deesker
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View article: New opportunities for accessing promising non-oncological orphan drugs
New opportunities for accessing promising non-oncological orphan drugs Open
View article: Controlled access to lumasiran in primary hyperoxaluria type 1: evaluation of a new access route for orphan drugs in the Netherlands
Controlled access to lumasiran in primary hyperoxaluria type 1: evaluation of a new access route for orphan drugs in the Netherlands Open
Background and hypothesis In search for controlled access to expensive innovative orphan drugs, a national access route called ‘Orphan Drug Access Protocol’ (ODAP) was developed and piloted with lumasiran, a new drug for patients with prim…
View article: Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN
Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN Open
Background Primary hyperoxaluria (PH) is a rare disorder with significant morbidity and mortality if left untreated. Given the rarity, global inequities in diagnostics and treatment are expected. Recently introduced RNA interference therap…
View article: Application of four pricing models for orphan medicines: a case study for lumasiran
Application of four pricing models for orphan medicines: a case study for lumasiran Open
Background The combination of high prices and uncertain effectiveness is a growing challenge in the field of orphan medicines, hampering health technology assessments. Hence, new methods for establishing price benchmarks might be necessary…
View article: Human glyoxylate metabolism revisited: New insights pointing to multi‐organ involvement with implications for <scp>siRNA</scp>‐based therapies in primary hyperoxaluria
Human glyoxylate metabolism revisited: New insights pointing to multi‐organ involvement with implications for <span>siRNA</span>‐based therapies in primary hyperoxaluria Open
Glyoxylate is a toxic metabolite because of its rapid conversion into oxalate, as catalyzed by the ubiquitous enzyme lactate dehydrogenase. This requires the presence of efficient glyoxylate detoxification systems in multiple subcellular c…
View article: Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1
Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1 Open
View article: Nedosiran Safety and Efficacy in PH1: Interim Analysis of PHYOX3
Nedosiran Safety and Efficacy in PH1: Interim Analysis of PHYOX3 Open
View article: Clinical practice recommendations for primary hyperoxaluria: An expert consensus statement from ERKNet and OxalEurope
Clinical practice recommendations for primary hyperoxaluria: An expert consensus statement from ERKNet and OxalEurope Open
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View article: Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium Open
View article: #5635 SYSTEMIC OXALOSIS: AN OVERVIEW OF THE FINDINGS AND PREVALENCE IN PRIMARY HYPEROXALURIA
#5635 SYSTEMIC OXALOSIS: AN OVERVIEW OF THE FINDINGS AND PREVALENCE IN PRIMARY HYPEROXALURIA Open
Background and Aims Systemic oxalosis is a severe co-morbidity that may arise in patients with primary hyperoxaluria type 1 (PH1). It is caused by precipitation of calcium oxalate crystals in organs besides the kidneys, as a result of high…
View article: #5731 INTRAFAMILIAL HETEROGENEITY AND IMPACT OF FAMILY SCREENING IN PRIMARY HYPEROXALURIA TYPE 1
#5731 INTRAFAMILIAL HETEROGENEITY AND IMPACT OF FAMILY SCREENING IN PRIMARY HYPEROXALURIA TYPE 1 Open
Background and Aims Primary hyperoxaluria is a rare genetic disease, caused by an autosomal recessive mutation of the AGXT gene. Clinical variability in outcome is reported within families with primary hyperoxaluria type 1 (PH1) with ident…
View article: Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope Open
View article: Genetic assessment in primary hyperoxaluria: why it matters
Genetic assessment in primary hyperoxaluria: why it matters Open
Accurate diagnosis of primary hyperoxaluria (PH) has important therapeutic consequences. Since biochemical assessment can be unreliable, genetic testing is a crucial diagnostic tool for patients with PH to define the disease type. Patients…
View article: Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry Open