A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 (PHYOX2)

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dc.contributorDicerna Pharmaceuticals (United States)
dc.contributor.authorTasian, Gregory
dc.contributor.otherChildren's Hospital of Philadelphia
dc.contributor.otherDicerna Pharmaceuticals (United States)
dc.date.accessioned2024-07-09T19:50:28Z
dc.date.available2024-07-09T19:50:28Z
dc.descriptionThis study was conducted in collaboration with Dicerna Pharmaceuticals to understand the characteristics, health care utilization, and outcomes of children with Primary Hyperoxaluria (PH), a rare genetic disorder characterized by the over-production of oxalate that manifests with complications of the kidneys. Three forms of PH (PH1, PH2, and PH3) posses similar clinical manifestations. The distinctions between the three forms were studied throughout this project. Regulatory authorities have not approved therapies for the treatment of patients with PH. This study was intended to generate new knowledge about the impact of PH on kidney function and characterize the clinical course for children with PH. This information will provide a better understanding of clinically relevant outcomes that could be assessed and improved in clinical trials of Nedosiran, a novel RNAi therapeutic that targets LDH-A expression in the liver. The study identified pediatric patients with all types of PH in seven PEDSnet affiliate healthcare systems. These patients were then informed of the opportunity to participate in clinical trials conducted by Dicerna Pharmaceuticals, particularly PHYOX2, for Nedosiran, a synthetic ribonucleic acid interference (RNAi) drug that substantially reduces the activity of LDHA, a key enzyme in oxalate production in the liver. In addition, this study defined a clinical phenotype of children with PH by ascertaining their characteristics, clinical outcomes (e.g. kidney function, imaging findings), and health services utilization. The cohort for this study included children with diagnosed PH. Children were first identified in the PEDSnet CDM by a centralized query based on SNOMED diagnosis codes. The medical records of each of those children were then reviewed by a chart reviewer at each of the PEDSnet institutions to confirm that the patient had a record of confirmatory genetic testing and to verify the PH type. This study was made possible through funding from Dicerna Pharmaceuticals (United States).
dc.description.abstractThis study was intended to generate new knowledge about the impact of Primary Hyperoxaluria (PH) on kidney function and characterize the clinical course for children with PH.
dc.identifier.urihttps://pedsnet.org/metadata/handle/20.500.14642/690
dc.publisherPEDSnet
dc.relationDermatology, Providers and Care Sites
dc.relationEndocrinology, Providers and Care Sites
dc.relationPercutaneous Nephrolithotomy
dc.relationBone Density Procedures
dc.relationCitrate, Drug Exposure
dc.relationEchocardiogram
dc.relationUrology, Providers and Care Sites
dc.relationCardiology, Providers and Care Sites
dc.relationVitamin B6, Drug Exposure
dc.relationOpthalmology, Providers and Care Sites
dc.relationNephrology, Providers and Care Sites
dc.relationElectrocardiogram
dc.relationOral Thiazides and Diuretics, Drug Exposure
dc.relationCystic Fibrosis
dc.relationHyperoxaluria
dc.relationPremature Birth
dc.relation.isreferencedbyChing, CB, Dickinson K, Karafilidis J, et al. 2023. "The real world experience of pediatric primary hyperoxaluria patients in the PEDSnet clinical research network." _Eur J Pediatr_ 182, 4027-4036. DOI: [10.1007/s00431-023-05077-y](doi.org/10.1007/s00431-023-05077-y)
dc.relation.isreferencedbyTasian G, Dickinson K, Karafilidis J, Marchesani N, Antunes N, Razzaghi H, et al. October 2022. "Diagnostic Code-Based Screening for Identifying Children with Primary Hyperoxaluria." _Journal of Urology_. 208(4):898-905. DOI: [10.1097/JU.0000000000002863](doi.org/10.1097/JU.0000000000002863)
dc.rightsa CC-BY 4.0 Attribution license.
dc.rights.urihttps://creativecommons.org/licenses/by-sa/4.0/
dc.subjectStudy::Funded Study::PKIDS Study
dc.subjectStudy::Pilot Study
dc.subjectStudy::Funded Study::PEDSnet Study
dc.subjectConcept Set Development::Concept Set Evaluation::Chart Reviewed
dc.subject.meshHyperoxaluria, Primary
dc.subject.meshHyperoxaluria
dc.subject.meshKidney Diseases
dc.subject.meshCarbohydrate Metabolism, Inborn Errors
dc.subject.meshMetabolism, Inborn Errors
dc.titleA Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 (PHYOX2)
dspace.entity.typeStudy
local.admin.notehttps://chop365.sharepoint.com/:f:/r/teams/RSCH-ACRC/Shared%20Documents/PEDSnet/PEDSnet%20Studies/Active%20Studies/Tasian_Dicerna?csf=1&web=1&e=XAT3aM
local.admin.notehttps://atlassian.chop.edu/jira/browse/PMO-393
local.subject.flatPilot Study
local.subject.flatPEDSnet Data Source
local.subject.flatIndustry-Funded Research
project.endDate2021-06
project.startDate2020-09
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Pediatric KIDney Stone (PKIDS)