2024
Qualitative Analysis and Comparison of Externally Led, Patient-Focused Drug Development (EL-PFDD) Concepts for Autosomal Recessive Polycystic Kidney Disease (ARPKD) against Standardized Outcomes in Nephrology (SONG) Initiatives
Soyfer B, Fedeles S, Vanasco W, Perrone R, Liebau M, Hartung E, Dell K, Guay-Woodford L, Hoover E, Oberdhan D. Qualitative Analysis and Comparison of Externally Led, Patient-Focused Drug Development (EL-PFDD) Concepts for Autosomal Recessive Polycystic Kidney Disease (ARPKD) against Standardized Outcomes in Nephrology (SONG) Initiatives. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024fj4z3w71. DOI: 10.1681/asn.2024fj4z3w71.Peer-Reviewed Original ResearchAutosomal recessive polycystic kidney diseaseRecessive polycystic kidney diseasePolycystic kidney diseaseDrug developmentKidney diseaseQualitative analysisPatient-focused drug development
2022
Polycystic Kidney Disease Drug Development: A Conference Report
Liebau M, Mekahli D, Perrone R, Soyfer B, Fedeles S. Polycystic Kidney Disease Drug Development: A Conference Report. Kidney Medicine 2022, 5: 100596. PMID: 36698747, PMCID: PMC9867973, DOI: 10.1016/j.xkme.2022.100596.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseasePolycystic kidney diseaseAutosomal recessive polycystic kidney diseaseRecessive polycystic kidney diseaseKidney diseaseProgression of ADPKDSide effect profileChronic kidney failureDisease-modifying therapiesAutosomal dominant polycystic liver diseasePolycystic liver diseaseTotal kidney volumeDominant polycystic kidney diseaseCritical Path InstituteMechanism of actionCommon monogenic disorderDrug development toolsEffect profileLiver diseaseKidney failureOutcomes ConsortiumEnrichment biomarkerClinical trialsKidney volumeSurrogate endpoints
2014
Polycystin-1: a master regulator of intersecting cystic pathways
Fedeles SV, Gallagher AR, Somlo S. Polycystin-1: a master regulator of intersecting cystic pathways. Trends In Molecular Medicine 2014, 20: 251-260. PMID: 24491980, PMCID: PMC4008641, DOI: 10.1016/j.molmed.2014.01.004.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseAutosomal recessive polycystic kidney diseaseAutosomal dominant polycystic liver diseasePolycystic kidney diseaseKidney diseasePolycystic liver diseaseRecessive polycystic kidney diseaseDominant polycystic kidney diseaseLiver diseasePolycystic diseaseCyst growthLethal monogenic disorderCyst formationTranslational implicationsDiseaseMonogenic disordersCausative genesCystic phenotypeRecent dataPolycystin-1Polycystin-2Master regulator