- E-mailCamilla.Tondel@uib.no
- Phone+47 924 68 362
- Visitor AddressHaukeland Universitetssykehus Laboratoriebygget, 7. etg. Heis øst
- Postal AddressPostboks 78045020 Bergen
Camilla Tøndel has since licensing of Fabry-specific treatment in 2001 been responsible for follow-up of children and adults with Fabry disease, and in 2013 she finalised her PhD on evaluation of kidney disease and enzyme replacement therapy in Fabry disease. Renal biopsies and GFR measurements are important in many of the investigator initiated and pharmaindustry initiated studies she participates in, included GMO-based first-in-human research. Pharmacokinetics in clinical trials and as tool in evaluation of renal function (iohexol clearance) is central in her research, as also immunologic mechanisms and treatments within various organ systems/diseases. As part of the board in NorCRIN (since 2012) and NorPedMed (since 2014) she works for more clinical trials in Norway.
Academic article
- 2021. Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. Molecular Genetics and Metabolism.
- 2020. SARS-CoV-2-specific neutralizing antibody responses in Norwegian healthcare workers after the first wave of COVID-19 pandemic: a prospective cohort study. Journal of Infectious Diseases.
- 2020. Low birthweight is associated with lower glomerular filtration rate in middle-aged mainly healthy women. Nephrology, Dialysis and Transplantation. 1-8.
- 2020. Growth Differentiation Factor 15 in Children with Chronic Kidney Disease and after Renal Transplantation. Disease Markers. 1-8.
- 2020. Early Induction of Cross-Reactive CD8+ T-Cell Responses in Tonsils After Live-Attenuated Influenza Vaccination in Children. Journal of Infectious Diseases. 1528-1537.
- 2020. Early Induction of Cross-Reactive CD8+ T-Cell Responses in Tonsils After Live-Attenuated Influenza Vaccination in Children. Journal of Infectious Diseases. 1528-1537.
- 2020. Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss. Journal of the American Society of Nephrology. 865-875.
- 2019. The pharmacokinetics, safety, and tolerability of mirabegron in children and adolescents with neurogenic detrusor overactivity or idiopathic overactive bladder and development of a population pharmacokinetic model-based pediatric dose estimation. Journal of Pediatric Urology.
- 2019. Measurement of renal functional response using iohexol clearance—a study of different outpatient procedures. Clinical Kidney Journal. 1-8.
- 2019. Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial. Molecular Genetics and Metabolism. 86-94.
- 2018. The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts. Molecular Genetics and Metabolism. 1-12.
- 2018. Estimating glomerular filtration rate in children: evaluation of creatinine- and cystatin C-based equations. Pediatric nephrology (Berlin, West). 1-11.
- 2017. Renal Function Influences Diagnostic Markers in Serum and Urine: A Study of Guanidinoacetate, Creatine, Human Epididymis Protein 4, and Neutrophil Gelatinase–Associated Lipocalin in Children. The Journal of Applied Laboratory Medicine. 297-308.
- 2017. Pathomechanisms of renal Fabry disease. Cell and Tissue Research. 53-62.
- 2017. Long-term dose-dependent agalsidase effects on kidney histology in fabry disease. American Society of Nephrology. Clinical Journal. 1470-1479.
- 2017. Iohexol plasma clearance in children: validation of multiple formulas and single-point sampling times. Pediatric nephrology (Berlin, West). 1-14.
- 2017. Hearing loss in children with Fabry disease. Journal of Inherited Metabolic Disease. 725-731.
- 2017. Bedside stereomicroscopy of Fabry kidney biopsies: An easily available method for diagnosis and assessment of sphingolipid deposits. Nephron. 13-21.
- 2016. Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients. Nephrology, Dialysis and Transplantation. 807-813.
- 2016. One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease. PLOS ONE.
- 2016. Live attenuated influenza vaccine in children induces b-cell responses in tonsils. Journal of Infectious Diseases. 722-731.
- 2016. Iohexol plasma clearance in children: validation of multiple formulas and two-point sampling times. Pediatric nephrology (Berlin, West). 311-320.
- 2015. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: The European Fabry Working Group consensus document. Orphanet Journal of Rare Diseases. 1-10.
- 2015. Longevity of B-cell and T-cell responses after live attenuated influenza vaccination in children. Journal of Infectious Diseases. 1541-1549.
- 2015. Glomerular filtration rate measured by iohexol clearance: A comparison of venous samples and capillary blood spots. Scandinavian Journal of Clinical and Laboratory Investigation. 710-716.
- 2015. Foot process effacement is an early marker of nephropathy in young classic fabry patients without albuminuria. Nephron. 16-21.
- 2015. Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis. Molecular Genetics and Metabolism. 242-247.
- 2015. Characterization of early disease status in treatment-naive male paediatric patients with fabry disease enrolled in a randomized clinical trial. PLOS ONE.
- 2014. Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up. JIMD Reports. 83-90.
- 2014. Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease. PLOS ONE.
- 2013. Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease. Journal of the American Society of Nephrology. 137-148.
- 2012. Safety and complications of percutaneous kidney biopsies in 715 children and 8573 adults in Norway 1988-2010. American Society of Nephrology. Clinical Journal. 1591-1597.
- 2012. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage. JIMD Reports.
- 2011. Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney International. 663-670.
- 2010. Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate. Nephrology, Dialysis and Transplantation. 1507-1513.
- 2010. Modelling the resource implications of managing adults with Fabry disease in Norway favours home infusion. European Journal of Clinical Investigation. 1104-1112.
- 2009. The MDRD equation may mask decline of glomerular filtration rate in Fabry patients with normal or nearly normal kidney function. Clinical Nephrology. 118-124.
- 2009. Monitoring renal Function in Fabry children: comparisons of measured and creatinine-based estimated Glomerular Filtration Rate. Nephrology, Dialysis and Transplantation. 7 pages.
- 2008. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. American Journal of Kidney Diseases. 767-776.
- 2005. Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. Clinical Nephrology. 394-401.
- 2003. [Intravenous Enzyme Substitution Therapy in Children With Fabry's Disease] . Tidsskrift for Den norske legeforening.
- 2002. Behandling av Graves sykdom hos barn og unge. Pediatrisk Endokrinologi. 42-46.
Academic lecture
- 2019. Fabry Nephropathy: First mRNA-seq Findings from Kidney Biopsies Before and After Enzyme Replacement Therapy.
- 2015. Cellular immune responses after live attenuated influenza vaccination in children, a clinical trial.
- 2013. Podocytes: Therapeutic Target in Fabry Disease?
- 2010. 5 YEARS FOLLOW-UP RENAL BIOPSIES IN PAEDIATRIC AND ADULT FABRY PATIENTS ON ENZYME REPLACEMENT THERAPY.
- 2009. Corneal changes in Fabry's disease.
Reader opinion piece
- 2013. Small fibre neuropathy in Fabry disease. Journal of Neurology. 917-919.
- 2011. Fabry or not Fabry – a question of ascertainment. European Journal of Human Genetics. 1111-1112.
Doctoral dissertation
- 2020. Estimation and measurement of glomerular filtration rate in children.
- 2017. Hereditary renal disease in the Norwegian population, with a focus on Fabry disease.
- 2013. Markers of nephropathy in young Fabry disease patients; role of kidney biopsies and functional measurement.
Interview
- 2015. Kreft hos barn og betydning av klinisk utprøving hos barn.
- 2015. Har testet medisiner på 400 barn.
- 2014. Kampen mot kreft.
- 2014. Forskning på legemidler til barn må gjøres i Norge.
- 2013. Forskning på medisiner til barn, Ekko .
- 2013. Enzyme replacement in Fabry disease.
Programme participation
- 2015. Liv og død-serien; Legemiddelutprøving hos barn.
Abstract
- 2013. Renal structural-functional relationship (SFR) studies suggest that podocyte GL-3 accumulation predicts urine protein creatinine ratio in Fabry disease (FD) nephropathy (FDN). Molecular Genetics and Metabolism. S68-S69.
- 2013. GLOMERULAR FILTRATION RATE (GFR) MEASURED BY IOHEXOL CLEARANCE IN CHILDREN; A COMPARISON BETWEEN VENOUS SAMPLES AND DRIED BLOOD SPOTS. Pediatric nephrology (Berlin, West). 1653-1654.
- 2013. A randomized, multicenter, multinational, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms: Baseline demographics and clinical data. Molecular Genetics and Metabolism. S99-S99.
- 2012. Mosaicism of Podocyte Involvement in Untreated Females with Fabry Disease. Molecular Genetics and Metabolism. S47-S48.
- 2010. RENAL FOLLOW-UP BIOPSIES IN YOUNG MALE FABRY PATIENTS ON ENZYME REPLACEMENT THERAPY. Clinical Therapeutics. S105-S107.
- 2009. Monitoring renal Function in Fabry children; estimated or measured glomerular Filtration rate? Molecular Genetics and Metabolism. 74-75.
- 2009. Fabry Disease: Unusual Symptoms in two Boys Treated with Lamotrigine and Fabrazyme, Respectively. Clinical Therapeutics. S43-S43.
- 2008. Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria. Clinical Therapeutics. S42-S42.
Poster
- 2020. Systems Analyses of Renal Fabry Transcriptome and Response to Enzyme Replacement Therapy (ERT) Identifies a Cross-Validated and Druggable ERT-Resistant Module.
- 2020. Switching from agalsidase alfa to pegunigalsidase alfa for treating Fabry disease: One year of treatment data from BRIDGE, a phase III open label study .
- 2020. Switching from Agalsidase Alfa to Pegunigalsidase Alfa for Treating Fabry Disease: One Year of Treatment Data from Bridge, a Phase 3 Open-Label Study.
- 2020. Low Birth Weigth Is Associated With Lower Measured Glomerular Filtration Rate In Adult Age.
- 2020. Diagnosis of AKI using Iohexol in critically ill children and neonates: preliminary results of the HERO study.
- 2019. Prelimenary Results of the Fabry Disease Phase III Open Label Study of Switching from Agalsidase Alfa to Pegunigalsidase Alfa.
- 2019. Pegunigalsidase alfa for the treatment of Fabry disease - Phase III open label, switch over study from agalsidase alfa - Preliminary results.
- 2019. Once every 4 weeks 2 mg/kg of pegunigalsidase alfa for treating Fabry disease- preliminary result of a phase 3 study.
- 2019. New Regimen of Once Every 4 Weeks 2 mg/kg of Pedunigalsidase Alfa for Treating Fabry Disease - Prelimenary Results of a Phase 3 Study.
- 2019. Measurement of renal functional response using iohexol clearance.
- 2019. Clinical Consequences of Paired Cardiac and Kidney Biopsies in a Treatment Naive Female Fabry Patient with a Classical Mutation and Minor Clnical Symptoms.
- 2019. Analysis of the baseline characteristics of Fabry disease patients screened for the pegunigalsidase alfa Phase III BALANCE study .
- 2019. Accumulation of Globotriaosylceramide in Podocytes (PC) in Fabry Nephropathy Is Associated with Progressive PC Loss.
- 2018. SINGLE INTRAVENOUS ACCESS FOR MEASUREMENT OF GLOMERULAR FILTRATION RATE IN CHILDREN AFTER MARKER INJECTION.
- 2018. Podocyte structural parameters predict glomerular filtration rate (GFR) loss in male patients with classic Fabry disease.
- 2018. KIDNEY-SPECIFIC THERAPEUTIC GOALS FOR FABRY DISEASE BASED ON EUROPEAN EXPERT CONSENSUS RECOMMENDATIONS AND SYSTEMATIC REVIEW OF PUBLISHED EVIDENCE.
- 2018. IOHEXOL CLEARANCE IN CHILDREN WITH LOW GFR: COMPARISON OF 24 HOURS SINGLE-POINT GFR AND MULTIPLE-POINT GFR.
- 2018. Fabry nephropathy: Transcriptome sequencing of microdissected renal compartments from archival kidney biopsies at baseline, and after 5 & 10 years of enzyme replacement therapy.
- 2017. Single-point iohexol plasma clearance in children: validation of multiple formulas and sampling times.
- 2017. Simplified Clinical Pre-histologic Scoring Method of Kidney Biopsies in Fabry Disease.
- 2017. Podocyte globotriaosylceramide (GL-3) content strongly impacts age-dependent podocyte loss in ERT-naïve male Fabry patients.
- 2017. A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIELD study): GL-3 clearance from superficial skin capillary endothelium.
- 2017. A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIELD study): GL-3 clearance from kidney cells.
- 2016. Podocyte Hypertrophy and Globotriaosylceramide (GL-3) Accumulation Are Strong Predictors of Podocyte Loss in Enzyme Replacement Therapy Naïve Male Patients with Fabry Disease.
- 2016. Glomerular filtration rate (GFR) strongly influences guanidinoacetic acid (GAA) in plasma and urine.
- 2016. GDF-15 in plasma and urine as a marker of kidney function in children .
- 2016. Differential response of glomerular parietal epithelial cells and podocytes to enzyme replacement therapy in Fabry nephropathy.
- 2015. Podocyte Globotriaosylceramide (GL3) Accumulation in Fabry Disease Is Influenced by Age and Genotype .
- 2015. LONG-TERM ENZYME REPLACEMENT THERAPY (ERT) BENEFITS THE GLOMERULI MORE THAN THE VASCULATURE IN YOUNGER FABRY NEPHROPATHY .
- 2015. FABRY DISEASE DIAGNOSED IN LIVING DONOR KIDNEY TRANSPLANT BIOPSY.
- 2015. DIFFERENTIAL KIDNEY EFFECTS OF HIGH AND LOW ENZYME DOSE IN MALE SIBLINGS TREATED FOR 13 YEARS .
- 2014. Renal Biopsies after 6-11 Years of Enzyme Replacement Therapy in 9 Young Classic Fabry Disease Patients.
- 2014. Five Children with Fabry Disease and Significant Tissue Damage in Renal Biopsies Despite Normal Clinical Renal Parameters.
- 2014. Fabry nephropathy (FN) outcome and the impact of diagnostic kidney biopsies after 10 years enzyme replacement therapy (ERT).
- 2014. Enzyme Replacement Therapy (ERT) in Fabry Disease (FD) Reduces Podocyte (PC) Globotriaosylceramide (GL3) Content within a Year (yr).
- 2014. Consensus recommendation on Fabry disease diagnosis in adult patients with kidney disease.
- 2013. Glomerular filtration rate (GFR) measured by iohexolclearance in children; how many sample points are necessary?
- 2013. Glomerular Filtration Rate (GFR) measured by Iohexol Clearance in Children; a comparison between venous samples and dried spots.
- 2009. Renal follow-up biopsies in young male Fabry patients on enzyme replacement therapy.
- 2008. Renal biopsies in children in Norway 1988-2005: clinical variables, complications and prognosis.
- 2008. Formula GFR overestimates Renal Function in Children and Adult Males with Fabry Disease and Stage 1-2 CKD.
- 2008. Fabry disease: Unusual symptoms in two male children treated with lamotrigine and fabrazyme, respectively.
Errata
- 2016. Erratum to: Iohexol plasma clearance in children: validation of multiple formulas and two-point sampling times (Pediatric Nephrology, (2017), 32, 2, (311-320), 10.1007/s00467-016-3436-z). Pediatric nephrology (Berlin, West). 375-376.
Academic literature review
- 2018. European expert consensus statement on therapeutic goals in Fabry disease. Molecular Genetics and Metabolism. 189-203.
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