Edna Mancilla, MD
Professor of Clinical Pediatrics (Endocrinology and Diabetes)
Attending Physician, Division of Endocrinology, Children's Hospital of Philadelphia
Consulting Endocrinologist, Pennsylvania Hospital
Department: Pediatrics
Contact information
Children's Hospital of Philadelphia
Division of Endocrinology and Diabetes
3500 Civic Center Blvd
Philadelphia, PA 19104
Division of Endocrinology and Diabetes
3500 Civic Center Blvd
Philadelphia, PA 19104
Office: 215 590 3174
Fax: 215 590 3053
Fax: 215 590 3053
Email:
mancillae@email.chop.edu
mancillae@email.chop.edu
Education:
MD (Medicine)
University of Chile, 1987.
Permanent linkMD (Medicine)
University of Chile, 1987.
Description of Clinical Expertise
Disorders of bone and calcium metabolism in childrenDescription of Research Expertise
Bone and calcium metabolism, clinical researchFibrodysplasia Ossificans Progressiva, clinical care and research
Growth plate
Selected Publications
Simmons JH, Mancilla EE, Mumm S, Dahir KM, Duan S, Aamodt KI, Lawrence JT, Carrigan RB, Whyte MP.: Duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) are associated with tendon avulsion. Bone 197: 117486, Apr 2025.Groeneweg S, van Geest FS, Martín M, Dias M, Frazer J, Medina-Gomez C, Sterenborg RBTM, Wang H, Dolcetta-Capuzzo A, de Rooij LJ, Teumer A, Abaci A, van den Akker ELT, Ambegaonkar GP, Armour CM, Bacos I, Bakhtiani P, Barca D, Bauer AJ, van den Berg SAA, van den Berge A, Bertini E, van Beynum IM, Brunetti-Pierri N, Brunner D, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, Chesover A, Christian P, Coenen-van der Spek J, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dewey C, Dica A, Dimitri P, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi L, George B, Gevers EF, Greenup E, Hackenberg A, Halász Z, Heinrich B, Hurst AC, Huynh T, Isaza AR, Klosowska A, van der Knoop MM, Konrad D, Koolen DA, Krude H, Kulkarni A, Laemmle A, LaFranchi SH, Lawson-Yuen A, Lebl J, Leeuwenburgh S, Linder-Lucht M, López Martí A, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova JK, Mancilla EE, McCormick KL, McGowan A, Mericq V, Lora FM, Moran C, Muller KE, Nicol LE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Seckold R, Seven Menevse T, Simm P, Simon A, Singh Y, Spada M, Stals MAM, Stegenga MT, Stoupa A, et al.: Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. Nat Commun 16: 2479, Mar 2025.
Stoffers AJ, Mancilla EE, Levine MA, Mayer M, Monk HM, Rosano J, Weber DR.: Clinical Efficacy of Zoledronic Acid on Fracture Reduction in Youth with Primary and Secondary Skeletal Fragility. J Clin Endocrinol Metab Sep 2024.
Lama Alzoebie1, Bekah Wang T, Blaine Crowley, Victoria Giunta, Audrey Green, Elaine H. Zackai, Beverly S Emanuel, Donna M. McDonald-McGinn, Vaneeta Bamba, Lorraine Katz, Victor Ho-Fung, and Edna E. Mancilla: Children and Young Adults With 22q11.2 Deletion Syndrome and Fractures: A Case Series. 13th Biennial International 22q11.2 Meeting in Óbidos, Portugal July 16-18, 2024 2024.
Edward C. Hsiao, Angela M. Cheung, Robert . Pignolo, Mona Al Mukaddam, Geneviève Baujat, Staffan K. Berglund, Carmen De Cunto, Patricia Delai, Peter Kannu, Richard Keen, Edna E. Mancilla, Rose Marino, Andrew Strahs, Frederick S. Kaplan: Long-Term Impact of Palovarotene Treatment on Heterotopic Ossification in Patients with Fibrodysplasia Ossificans Progressiva: Data from the Phase III MOVE Trial FOP Drug Development Forum, International FOP Association, IFOPA June 26-28, 2024 Stockholm , Sweden 2024.
Edna E. Mancilla, Geneviève Baujat, Mona Al Mukaddam, Javier Bachiller-Corral, Staffan K. Berglund, Carmen De Cunto, Patricia Delai, Richard Keen, Riccardo Papa, Robert J. Pignolo, Sally Lanar, Alexia Marrel, Alexander Artyomenko, Kim Croskery, Christelle Pommie, Edward C. Hsiao: The impact of palovarotene on patients with fibrodysplasia ossificans progressiva: Results from participant interviews in the phase III PIVOINE trial 11th International Conference on Children's Bone Health ICCBH 2024. June 22-25 Salzburg, Austria 2024.
Pignolo RJ, Hsiao EC, Al Mukaddam M, Baujat G, Berglund SK, Brown MA, Cheung AM, De Cunto C, Delai P, Haga N, Kannu P, Keen R, Sang KQ, Mancilla EE, Marino R, Strahs A, Kaplan FS : Reduction of New Heterotopic Ossification (HO) in the Open-Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP). Journal of Bone and Mineral Research 38(3): 381-394. Mar 2023 Notes: epub ahead of print.
Craven M, Vajravelu ME, Shekdar KV, Levine MA, Mumm S, Whyte MP, Mancilla EE: Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): clinical characterization and response to bisphosphonate therapy. Bone. 2023 Feb 3:116698. doi: 10.1016/j.bone.2023.116698. Online ahead of print Feb 2023.
Angela M Cheung,Edward C Hsiao,Robert J Pignolo,Mona Al Mukaddam,Geneviève Baujat,Staffan K Berglund,Carmen De Cunto,Patricia Delai,Peter Kannu,Richard Keen, Edna E Mancilla, Rose Marino,Andrew Strahs, Frederick S Kapla: Long-Term Impact of Palovarotene Treatment on Heterotopic Ossification in Patients with Fibrodysplasia Ossificans Progressiva: Data from the Phase III MOVE Trial. ASBMR 2023 Annual Meeting 2023.
Geneviève Baujat,Edward C Hsiao,Robert J Pignolo,Mona Al Mukaddam,Staffan K Berglund,Angela M Cheung,Carmen De Cunto,Patricia Delai,Peter Kannu,Richard Keen, Edna E Mancilla, Rose Marino, Andrew Strahs, Frederick S Kaplan: Efficacy of Palovarotene for the Reduction of New Heterotopic Ossification in Patients with Fibrodysplasia Ossificans Progressiva: Sensitivity Analyses from the Phase III MOVE Trial. ASBMR2023 Annual Meeting 2023.