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6. Management of RANKL-mediated Disorders With Denosumab in Children and Adolescents: A Global Expert Guidance Document.

Author

Vanderniet, Joel A, Szymczuk, Vivian, Högler, Wolfgang, Beck-Nielsen, Signe S, Uday, Suma, Merchant, Nadia, Crane, Janet L, Ward, Leanne M, Boyce, Alison M, and Munns, Craig F

Subjects
TRANCE protein, GIANT cell tumors, ANEURYSMAL bone cyst
Abstract

Context Denosumab is an effective treatment for many receptor activator of nuclear factor kappa-B ligand (RANKL)-mediated disorders but there are potential safety considerations and limited data to guide its use in children and adolescents. Objective This document seeks to summarize the evidence and provide expert opinion on safe and appropriate use of denosumab in pediatric RANKL-mediated disorders. Participants Ten experts in pediatric bone and mineral medicine from 6 countries with experience in the use of denosumab participated in the creation of this document. Evidence Data were sourced from the published literature, primarily consisting of case reports/series and review articles because of the lack of higher level evidence. Expert opinion of the authors was used substantially when no published data were available. Conclusion Denosumab is an effective treatment for RANKL-mediated disorders in children and adolescents but is often not curative and, in some cases, is best used in conjunction with surgical or other medical treatments. Careful multidisciplinary planning is required to define the goals of treatment and expert oversight needed to manage the risk of mineral abnormalities. Substantive, collaborative research efforts are needed to determine optimal treatment regimens and minimize risks. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, Stefan, van Geest, Ferdy S, Abacı, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautam P, Armour, Christine M, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F M, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein H G, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Halász, Zita, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Konrad, Daniel, Koolen, David A, Krude, Heiko, Lawson-Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lorea, Cláudia F, Lourenço, Charles M, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, McGowan, Anne, Mericq, Veronica, Lora, Felipe M, Moran, Carla, Müller, Katalin E, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Poswar, Fabiano O, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba S, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou A M, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, and Visser, W Edward

Published
2020
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9. Improved local diagnosis of focal hyperinsulinism in the COVID‐19 era by interstate radiopharmaceutical transport

Author

Vanderniet, Joel, primary, Neville, Kristen A, additional, Conwell, Louise S, additional, Wegner, Eva A, additional, Craig, Maria E, additional, Adams, Susan, additional, Gifford, Andrew J, additional, Koutsiofi, Melissa, additional, Calabria, Frances M, additional, Maguire, Gemma, additional, Thomas, Paul, additional, Campbell, Louise, additional, and Woodhead, Helen J, additional

Published
2022
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10. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

Author

van Geest, Ferdy S, primary, Groeneweg, Stefan, additional, van den Akker, Erica L T, additional, Bacos, Iuliu, additional, Barca, Diana, additional, van den Berg, Sjoerd A A, additional, Bertini, Enrico, additional, Brunner, Doris, additional, Brunetti-Pierri, Nicola, additional, Cappa, Marco, additional, Cappuccio, Gerarda, additional, Chatterjee, Krishna, additional, Chesover, Alexander D, additional, Christian, Peter, additional, Coutant, Régis, additional, Craiu, Dana, additional, Crock, Patricia, additional, Dewey, Cheyenne, additional, Dica, Alice, additional, Dimitri, Paul, additional, Dubey, Rachana, additional, Enderli, Anina, additional, Fairchild, Jan, additional, Gallichan, Jonathan, additional, Garibaldi, Luigi R, additional, George, Belinda, additional, Hackenberg, Annette, additional, Heinrich, Bianka, additional, Huynh, Tony, additional, Kłosowska, Anna, additional, Lawson-Yuen, Amy, additional, Linder-Lucht, Michaela, additional, Lyons, Greta, additional, Monti Lora, Felipe, additional, Moran, Carla, additional, Müller, Katalin E, additional, Paone, Laura, additional, Paul, Praveen G, additional, Polak, Michel, additional, Porta, Francesco, additional, Reinauer, Christina, additional, de Rijke, Yolanda B, additional, Seckold, Rowen, additional, Menevşe, Tuba Seven, additional, Simm, Peter, additional, Simon, Anna, additional, Spada, Marco, additional, Stoupa, Athanasia, additional, Szeifert, Lilla, additional, Tonduti, Davide, additional, van Toor, Hans, additional, Turan, Serap, additional, Vanderniet, Joel, additional, de Waart, Monique, additional, van der Wal, Ronald, additional, van der Walt, Adri, additional, van Wermeskerken, Anne-Marie, additional, Wierzba, Jolanta, additional, Zibordi, Federica, additional, Zung, Amnon, additional, Peeters, Robin P, additional, and Visser, W Edward, additional

Published
2021
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12. Improved local diagnosis of focal hyperinsulinism in the COVID‐19 era by interstate radiopharmaceutical transport.

Author

Vanderniet, Joel, Neville, Kristen A, Conwell, Louise S, Wegner, Eva A, Craig, Maria E, Adams, Susan, Gifford, Andrew J, Koutsiofi, Melissa, Calabria, Frances M, Maguire, Gemma, Thomas, Paul, Campbell, Louise, and Woodhead, Helen J

Subjects
*COVID-19 pandemic, *HYPERINSULINISM, *RADIOPHARMACEUTICALS, *VON Hippel-Lindau disease, *ICHTHYOSIS
Abstract

Improved local diagnosis of focal hyperinsulinism in the COVID-19 era by interstate radiopharmaceutical transport 2013; 98: E1786 - 9. 7 States LJ, Davis JC, Hamel SM, Becker SA, Zhuang H. 18F-6-Fluoro-l-Dopa PET/CT imaging of congenital hyperinsulinism. Interstate transport of SP 18 sp F-DOPA, rather than the infant, resulted in improved patient safety, reduced cost and shorter time to definitive treatment for an infant with focal congenital hyperinsulinism, but is primarily limited by its 8-h expiry window and requires a close collaborative and multidisciplinary approach. [Extracted from the article]

Published
2023
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13. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

Author

van Geest, Ferdy S, Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Doris, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D, Christian, Peter, Coutant, Régis, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R, George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, Lawson-Yuen, Amy, Linder-Lucht, Michaela, Lyons, Greta, Monti Lora, Felipe, Moran, Carla, Müller, Katalin E, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, de Rijke, Yolanda B, Seckold, Rowen, Menevşe, Tuba Seven, Simm, Peter, Simon, Anna, Spada, Marco, Stoupa, Athanasia, Szeifert, Lilla, Tonduti, Davide, van Toor, Hans, Turan, Serap, Vanderniet, Joel, de Waart, Monique, van der Wal, Ronald, van der Walt, Adri, van Wermeskerken, Anne-Marie, Wierzba, Jolanta, Zibordi, Federica, Zung, Amnon, Peeters, Robin P, and Visser, W Edward

Published
2022
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14. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

Author

Monique de Waart, Anina Enderli, Ferdy S van Geest, Adri van der Walt, Krishna Chatterjee, Sjoerd A A van den Berg, Laura Paone, Patricia Crock, Anne-Marie van Wermeskerken, Lilla Szeifert, Francesco Porta, D Barca, Carla Moran, Katalin E Müller, Alice Dica, Athanasia Stoupa, Felipe Monti Lora, Dana Craiu, Hans van Toor, Peter Christian, Amnon Zung, Stefan Groeneweg, W. Edward Visser, Ronald van der Wal, Régis Coutant, Luigi Garibaldi, Marco Spada, Joel Vanderniet, Jolanta Wierzba, Tony Huynh, Greta Lyons, Annette Hackenberg, Gerarda Cappuccio, Serap Turan, Michaela Linder-Lucht, Jan Fairchild, Peter J Simm, Yolanda B. de Rijke, Enrico Bertini, Amy Lawson-Yuen, Erica L T van den Akker, Bianka Heinrich, Nicola Brunetti-Pierri, Michel Polak, Cheyenne Dewey, Rachana Dubey, Christina Reinauer, Praveen G. Paul, Belinda George, Doris Brunner, Robin P. Peeters, Paul Dimitri, Marco Cappa, Anna Simon, Federica Zibordi, Tuba Seven Menevse, Jonathan Gallichan, Anna Kłosowska, Rowen Seckold, Iuliu Bacos, Davide Tonduti, Alexander D Chesover, Internal Medicine, Pediatrics, Clinical Chemistry, van Geest, Ferdy S, Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Dori, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D, Christian, Peter, Coutant, Régi, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R, George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, Lawson-Yuen, Amy, Linder-Lucht, Michaela, Lyons, Greta, Lora, Felipe Monti, Moran, Carla, Müller, Katalin E, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, de Rijke, Yolanda B, Seckold, Rowen, Menevşe, Tuba Seven, Simm, Peter, Simon, Anna, Spada, Marco, Stoupa, Athanasia, Szeifert, Lilla, Tonduti, Davide, van Toor, Han, Turan, Serap, Vanderniet, Joel, de Waart, Monique, van der Wal, Ronald, van der Walt, Adri, van Wermeskerken, Anne-Marie, Wierzba, Jolanta, Zibordi, Federica, Zung, Amnon, Peeters, Robin P, and Visser, W Edward

Subjects
Male, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, chemistry.chemical_compound, Endocrinology, Clinical endpoint, MCT8 Deficiency, Child, Symporters, Thyroid, Middle Aged, Muscular Atrophy, Treatment Outcome, medicine.anatomical_structure, Child, Preschool, Muscle Hypotonia, Triiodothyronine, Female, Adult, Monocarboxylic Acid Transporters, medicine.medical_specialty, Adolescent, Context (language use), AHDS, Young Adult, SDG 3 - Good Health and Well-being, Internal medicine, Heart rate, medicine, Humans, Allan-Herndon-Dudley syndrome, Aged, Retrospective Studies, Creatinine, Allan–Herndon–Dudley syndrome, T3 analogue, business.industry, Biochemistry (medical), Infant, Retrospective cohort study, medicine.disease, chemistry, Mutation, Mental Retardation, X-Linked, business, thyromimetic drug, Follow-Up Studies, Hormone
Abstract

Context Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction. Objective Our previous trial showed improvement of key clinical and biochemical features during 1-year treatment with the T3 analogue Triac, but long-term follow-up data are needed. Methods In this real-life retrospective cohort study, we investigated the efficacy of Triac in MCT8-deficient patients in 33 sites. The primary endpoint was change in serum T3 concentrations from baseline to last available measurement. Secondary endpoints were changes in other thyroid parameters, anthropometric parameters, heart rate, and biochemical markers of thyroid hormone action. Results From October 15, 2014 to January 1, 2021, 67 patients (median baseline age 4.6 years; range, 0.5-66) were treated up to 6 years (median 2.2 years; range, 0.2-6.2). Mean T3 concentrations decreased from 4.58 (SD 1.11) to 1.66 (0.69) nmol/L (mean decrease 2.92 nmol/L; 95% CI, 2.61-3.23; P < 0.0001; target 1.4-2.5 nmol/L). Body-weight-for-age exceeded that of untreated historical controls (mean difference 0.72 SD; 95% CI, 0.36-1.09; P = 0.0002). Heart-rate-for-age decreased (mean difference 0.64 SD; 95% CI, 0.29-0.98; P = 0.0005). SHBG concentrations decreased from 245 (99) to 209 (92) nmol/L (mean decrease 36 nmol/L; 95% CI, 16-57; P = 0.0008). Mean creatinine concentrations increased from 32 (11) to 39 (13) µmol/L (mean increase 7 µmol/L; 95% CI, 6-9; P < 0.0001). Mean creatine kinase concentrations did not significantly change. No drug-related severe adverse events were reported. Conclusions Key features were sustainably alleviated in patients with MCT8 deficiency across all ages, highlighting the real-life potential of Triac for MCT8 deficiency.

Published
2021

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