Farzana Perwad, MD

Associate Professor

Pediatrics

Dr. Farzana Perwad is a specialist who cares for children with kidney disease, including those requiring dialysis and kidney transplant. Her expertise includes evaluating and treating chronic kidney disease in children, nephrotic syndrome (a disorder that causes excessive excretion of protein in the urine), kidney stones, urinary tract infections, and kidney or urinary tract abnormalities that were present at birth. Her research focus is to understand the molecular mechanisms of regulation of phosphorus and vitamin D metabolism in the setting of chronic kidney disease.

Interests: FGF23, kidney, phosphorus, calcium, vitamin D, rickets, chronic kidney disease, bone, PTH

Publications:

Association of the Ratio of Intact-to-C-terminal Fibroblast Growth Factor 23 with Heart Failure with Preserved Ejection Fraction.

Journal of the American Society of Nephrology

Cassianne Robinson-Cohen, Farzana Perwad, Joachim H. Ix, Valentin David, Elvis Abang Akwo

Transfer Learning Predicts Network Biology for Fibroblast Growth Factor 23 (FGF-23) and Cardiac Disease.

Journal of the American Society of Nephrology

Farzana Perwad, Elvis Abang Akwo, Cassianne Robinson-Cohen

Multi-trait Analysis of GWAS for circulating FGF23 Identifies Novel Network Interactions Between HRG-HMGB1 and Cardiac Disease in CKD.

medRxiv : the preprint server for health sciences

Perwad F, Akwo EA, Vartanian N, Suva LJ, Friedman PA, Robinson-Cohen C

Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period.

JBMR plus

Ward LM, Högler W, Glorieux FH, Portale AA, Whyte MP, Munns CF, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Sochett E, Muroya K, Tanaka H, Pitukcheewanont P, Gottesman GS, Biggin A, Perwad F, Chen A, Lawrence Merritt Ii J, Imel EA

Multi-Trait Analysis of Mineral Metabolism Markers Identifies Novel Genetic Associations for FGF23.

Journal of the American Society of Nephrology

Cassianne Robinson-Cohen, Nicholas Vartanian, Elvis A. Akwo, Farzana Perwad

Multi-Trait Genome-Wide Association Study (GWAS) and Functional Genomics Identifies Novel Genetic Traits and Dynamic Networks for FGF23.

Journal of the American Society of Nephrology

Farzana Perwad, Nicholas Vartanian, Elvis A. Akwo, Cassianne Robinson-Cohen

Burosumab Versus Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Sub-group Analysis by Dose Level.

The Journal of clinical endocrinology and metabolism

Imel EA, Glorieux FH, Whyte MP, Portale AA, Munns CF, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, H?gler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Chen A, Roberts MS, Ward LM

Genetic testing in children with nephrolithiasis and nephrocalcinosis.

Pediatric nephrology (Berlin, Germany)

Gefen AM, Sethna CB, Cil O, Perwad F, Schoettler M, Michael M, Angelo JR, Safdar A, Amlie-Wolf L, Hunley TE, Ellison JS, Feig D, Zaritsky J

Genetic Variants Associated with Mineral Metabolism Traits in Chronic Kidney Disease.

The Journal of clinical endocrinology and metabolism

Laster ML, Rowan B, Chen HC, Schwantes-An TH, Sheng X, Friedman PA, Ikizler TA, Sinshiemer JS, Ix JH, Susztak K, de Boer IH, Kestenbaum B, Hung A, Moe SM, Perwad F, Robinson-Cohen C

Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study.

Calcified tissue international

Brandi ML, Jan de Beur S, Briot K, Carpenter T, Cheong HI, Cohen-Solal M, Crowley RK, Eastell R, Imanishi Y, Imel EA, Ing SW, Insogna K, Ito N, Javaid K, Kamenicky P, Keen R, Kubota T, Lachmann RH, Perwad F, Pitukcheewanont P, Portale A, Ralston SH, Tanaka H, Weber TJ, Yoo HW, Sun W, Williams A, Nixon A, Takeuchi Y

Rickets in a child with prolonged acquired hypothyroidism secondary to Hashimoto's thyroiditis.

Endocrinology, diabetes & metabolism case reports

Schulmeister C, Lee J, Perwad F, Long R, Srinivasan S

Association of Genetically Predicted Fibroblast Growth Factor-23 with Heart Failure: A Mendelian Randomization Study.

Clinical journal of the American Society of Nephrology : CJASN

Akwo E, Pike MM, Ertuglu LA, Vartanian N, Farber-Eger E, Lipworth L, Perwad F, Siew E, Hung A, Bansal N, de Boer I, Kestenbaum B, Cox NJ, Ikizler TA, Wells Q, Robinson-Cohen C

Genetic Testing in Children with Nephrolithiasis and Nephrocalcinosis.

Journal of the American Society of Nephrology

Ashley M. Gefen, Christine B. Sethna, Onur Cil, Farzana Perwad, Meg Schoettler, Louise Amlie-Wolf, Jonathan S. Ellison, Daniel Feig, Joshua Zaritsky

Longitudinal Changes in FGF-23 in Children with CKD.

Journal of the American Society of Nephrology

Farzana Perwad, Matthew Matheson, Isidro B. Salusky, Harald Jüppner, Myles Wolf, Bradley A. Warady, Susan L. Furth, Derek Ng, Anthony A. Portale

Adverse Consequences of Chronic Kidney Disease on Bone Health in Children.

Seminars in nephrology

Kumar J, Perwad F

Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension.

RMD open

Briot K, Portale AA, Brandi ML, Carpenter TO, Cheong HI, Cohen-Solal M, Crowley RK, Eastell R, Imanishi Y, Ing S, Insogna K, Ito N, Jan de Beur S, Javaid MK, Kamenicky P, Keen R, Kubota T, Lachmann RH, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Nixon A, Nixon M, Sun W, Williams A, Imel EA

Renal Dnase1 expression is regulated by FGF23 but loss of Dnase1 does not alter renal phosphate handling.

Scientific reports

Egli-Spichtig D, Zhang MYH, Li A, Pastor Arroyo EM, Hernando N, Wagner CA, Chang W, Perwad F

Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia.

Calcified tissue international

Padidela R, Whyte MP, Glorieux FH, Munns CF, Ward LM, Nilsson O, Portale AA, Simmons JH, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Williams A, Nixon A, Sun W, Chen A, Skrinar A, Imel EA

Chapter 7 The experimental detection of FGF23 responsiveness in target organs.

Farzana Perwad, Daniela Egli-Spichtig

Long-term safety in adults with X-linked Hypophosphatemia (XLH) treated with Burosumab, a fully human monoclonal antibody against FGF23: Final results of a phase 3 trial.

Bone reports

Peter Kamenický, Anthony A. Portale, Tom Carpenter, Karine Briot, Erik A. Imel, Thomas Weber, Pisit Pitukcheewanont, Hae Il Cheong, Suzanne Jan de Beur, Yasuo Imanishi, Nobuaki Ito, Robin Lachmann, Hiroyuki Tanaka, Farzana Perwad, Lin Zhang, Alison Skrinar, Linda Rees, Karl L. Insogna, On behalf of the AXLES 1 Investigators

Nephrocalcinosis at Baseline Did Not Increase the Risk of Nephrocalci-nosis Progression After Long-Term Burosumab Treatment in Adults and Children with X-Linked Hypophosphatemia (XLH).

Journal of the American Society of Nephrology

Farzana Perwad, Angel Chen, Lin Zhang, Mary Scott Roberts, Anthony A. Portale

Burosumab in X-linked hypophosphatemia and perspective for chronic kidney disease.

Current opinion in nephrology and hypertension

Balani S, Perwad F

Association Between Chronic Kidney Disease-Mineral Bone Disease (CKD-MBD) and Cognition in Children: Chronic Kidney Disease in Children (CKiD) Study.

Kidney medicine

Yokoyama JS, Matsuda-Abedini M, Denburg MR, Kumar J, Warady BA, Furth SL, Hooper SR, Portale AA, Perwad F

OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 Trial.

Journal of the Endocrine Society

Farzana Perwad, Anthony A Portale, Thomas O Carpenter, Karine Briot, Erik Allen Imel, Peter Kamenicky, Thomas Joseph Weber, Pisit Pitukcheewanont, Hae Il Cheong, Suzanne Marie Jan De Beur, Yasuo Imanishi, Nobuaki Ito, Robin Lachmann, Hiroyuki Tanaka, Lin Zhang, Alison Skrinar, Linda Rees, Karl Leonard Insogna

a-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases.

Pediatrics

Cil O, Perwad F

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.

Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Hogler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA

Fibroblast growth factor 23 and phosphate homeostasis.

Current opinion in nephrology and hypertension

Balani S, Perwad F

Risk Factors for Transplant-Associated Thrombotic Microangiopathy after Autologous Hematopoietic Cell Transplant in High-Risk Neuroblastoma.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation

Tolbert VP, Dvorak CC, Golden C, Vissa M, El-Haj N, Perwad F, Matthay KK, Vo KT

Burosumab Therapy for X-Linked Hypophosphatemia and Therapeutic Implications for CKD.

Clinical journal of the American Society of Nephrology : CJASN

Perwad F, Portale AA

Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period.

Calcified tissue international

Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan De Beur S, Eastell R, Imanishi Y, Imel EA, Ing S, Ito N, Javaid M, Kamenicky P, Keen R, Kubota T, Lachmann R, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K

Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.

Lancet (London, England)

Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA

Tumor necrosis factor stimulates fibroblast growth factor 23 levels in chronic kidney disease and non-renal inflammation.

Kidney international

Egli-Spichtig D, Imenez Silva PH, Glaudemans B, Gehring N, Bettoni C, Zhang MYH, Pastor-Arroyo EM, Schönenberger D, Rajski M, Hoogewijs D, Knauf F, Misselwitz B, Frey-Wagner I, Rogler G, Ackermann D, Ponte B, Pruijm M, Leichtle A, Fiedler GM, Bochud M, Ballotta V, Hofmann S, Perwad F, Föller M, Lang F, Wenger RH, Frew I, Wagner CA

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.

The Journal of clinical investigation

Roberts MS, Burbelo PD, Egli-Spichtig D, Perwad F, Romero CJ, Ichikawa S, Farrow E, Econs MJ, Guthrie LC, Collins MT, Gafni RI

Fibroblast Growth Factor 23 Expression Is Increased in Multiple Organs in Mice With Folic Acid-Induced Acute Kidney Injury.

Frontiers in physiology

Egli-Spichtig D, Zhang MYH, Perwad F

Vitamin D and kidney disease.

Bone reports

Keung L, Perwad F

A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen CY, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO, AXLES 1 Investigators