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2. Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget’s disease of bone

Author

Phillips, Jonathan, primary, Subedi, Deepak, additional, Lewis, Steff C, additional, Keerie, Catriona, additional, Cronin, Owen, additional, Porteous, Mary, additional, Moore, David, additional, Cetnarskyj, Roseanne, additional, Ranganath, Lakshminarayan, additional, Selby, Peter L, additional, Turgut, Tolga, additional, Hampson, Geeta, additional, Chandra, Rama, additional, Ho, Shu, additional, Tobias, Jon, additional, Young-Min, Steven, additional, McKenna, Malachi J, additional, Crowley, Rachel K, additional, Fraser, William D, additional, Tang, Jonathan C Y, additional, Gennari, Luigi, additional, Nuti, Rannuccio, additional, Brandi, Maria Luisa, additional, Del Pino-Montes, Javier, additional, Devogelaer, Jean-Pierre, additional, Durnez, Anne, additional, Isaia, Giovanni Carlo, additional, Di Stefano, Marco, additional, Guanabens, Nuria, additional, Blanch Rubio, Josep, additional, Seibel, Markus J, additional, Walsh, John P, additional, Rea, Sarah L, additional, Kotowicz, Mark A, additional, Nicholson, Geoffrey C, additional, Duncan, Emma L, additional, Major, Gabor, additional, Horne, Anne, additional, Gilchrist, Nigel, additional, and Ralston, Stuart H, additional

Published
2023
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4. Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.

Author

Moayyeri, Alireza, Hsu, Yi-Hsiang, Karasik, David, Estrada, Karol, Xiao, Su-Mei, Nielson, Carrie, Srikanth, Priya, Giroux, Sylvie, Wilson, Scott G, Zheng, Hou-Feng, Smith, Albert V, Pye, Stephen R, Leo, Paul J, Teumer, Alexander, Hwang, Joo-Yeon, Ohlsson, Claes, McGuigan, Fiona, Minster, Ryan L, Hayward, Caroline, Olmos, José M, Lyytikäinen, Leo-Pekka, Lewis, Joshua R, Swart, Karin MA, Masi, Laura, Oldmeadow, Chris, Holliday, Elizabeth G, Cheng, Sulin, van Schoor, Natasja M, Harvey, Nicholas C, Kruk, Marcin, del Greco M, Fabiola, Igl, Wilmar, Trummer, Olivia, Grigoriou, Efi, Luben, Robert, Liu, Ching-Ti, Zhou, Yanhua, Oei, Ling, Medina-Gomez, Carolina, Zmuda, Joseph, Tranah, Greg, Brown, Suzanne J, Williams, Frances M, Soranzo, Nicole, Jakobsdottir, Johanna, Siggeirsdottir, Kristin, Holliday, Kate L, Hannemann, Anke, Go, Min Jin, Garcia, Melissa, Polasek, Ozren, Laaksonen, Marika, Zhu, Kun, Enneman, Anke W, McEvoy, Mark, Peel, Roseanne, Sham, Pak Chung, Jaworski, Maciej, Johansson, Åsa, Hicks, Andrew A, Pludowski, Pawel, Scott, Rodney, Dhonukshe-Rutten, Rosalie AM, van der Velde, Nathalie, Kähönen, Mika, Viikari, Jorma S, Sievänen, Harri, Raitakari, Olli T, González-Macías, Jesús, Hernández, Jose L, Mellström, Dan, Ljunggren, Osten, Cho, Yoon Shin, Völker, Uwe, Nauck, Matthias, Homuth, Georg, Völzke, Henry, Haring, Robin, Brown, Matthew A, McCloskey, Eugene, Nicholson, Geoffrey C, Eastell, Richard, Eisman, John A, Jones, Graeme, Reid, Ian R, Dennison, Elaine M, Wark, John, Boonen, Steven, Vanderschueren, Dirk, Wu, Frederick CW, Aspelund, Thor, Richards, J Brent, Bauer, Doug, Hofman, Albert, Khaw, Kay-Tee, Dedoussis, George, Obermayer-Pietsch, Barbara, Gyllensten, Ulf, Pramstaller, Peter P, and Lorenc, Roman S

Subjects
Calcaneus, Humans, Osteoporosis, Genetic Predisposition to Disease, Ultrasonography, Cohort Studies, Bone Density, Polymorphism, Single Nucleotide, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Fractures, Bone, Genome-Wide Association Study, Young Adult, Human Genome, Genetics, Aging, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating osteoporosis and fracture risk. We performed a meta-analysis of genome-wide association (GWA) studies to assess the genetic determinants of heel broadband ultrasound attenuation (BUA; n = 14 260), velocity of sound (VOS; n = 15 514) and BMD (n = 4566) in 13 discovery cohorts. Independent replication involved seven cohorts with GWA data (in silico n = 11 452) and new genotyping in 15 cohorts (de novo n = 24 902). In combined random effects, meta-analysis of the discovery and replication cohorts, nine single nucleotide polymorphisms (SNPs) had genome-wide significant (P < 5 × 10(-8)) associations with heel bone properties. Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 × 10(-14)). In meta-analyses involving 25 cohorts with up to 14 985 fracture cases, six of 10 SNPs associated with heel bone properties at P < 5 × 10(-6) also had the expected direction of association with any fracture (P < 0.05), including three SNPs with P < 0.005: 6q22.33 (rs7741021), 7q31.31 (rs2908007) and 10q21.1 (rs7902708). In conclusion, this GWA study reveals the effect of several genes common to central DXA-derived BMD and heel ultrasound/DXA measures and points to a new genetic locus with potential implications for better understanding of osteoporosis pathophysiology.

Published
2014

5. Opposite associations between alanine aminotransferase and γ-glutamyl transferase levels and all-cause mortality in type 2 diabetes: Analysis of the Fenofibrate Intervention and Event Lowering in Diabetes (FIELD) study

Author

Williams, Kathryn H., Sullivan, David R., Nicholson, Geoffrey C., George, Jacob, Jenkins, Alicia J., Januszewski, Andrzej S., Gebski, Val J., Manning, Patrick, Tan, Yong Mong, Donoghoe, Mark W., Ehnholm, Christian, Young, Simon, O'Brien, Richard, Buizen, Luke, Twigg, Stephen M., and Keech, Anthony C.

Published
2016
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8. Translating research into action: The design and development of an Indigenous specific suicide intervention skills training program (I-ASIST)

Author

Nasir, Bushra Farah, Kisley, Stephen, Hides, Leanne, Brennan-Olsen, Sharon, Kondalsamy-Chennakesavan, Srinivas, Nicholson, Geoffrey C., Gill, Neeraj S., Beccaria, Gavin, Toombs, Maree, Nasir, Bushra Farah, Kisley, Stephen, Hides, Leanne, Brennan-Olsen, Sharon, Kondalsamy-Chennakesavan, Srinivas, Nicholson, Geoffrey C., Gill, Neeraj S., Beccaria, Gavin, and Toombs, Maree

Abstract

Note: We respectfully refer to Aboriginal and Torres Strait Islander people as Indigenous in this study. Objective: To design and develop an Indigenous specific suicide intervention skills program that focuses on education and intervention training as an effective suicide prevention strategy. Method: Using a co-designed wrap-around framework, we developed a program in collaboration with >90 communities, stakeholders and service providers across Australia to understand knowledge, awareness and sense of connectedness between at-risk groups and health services or support groups. Results: The I-ASIST training provides participants with the necessary skills and knowledge to apply a suicide intervention model. The framework behind the intervention model provides caregivers the awareness to recognise when someone may be at risk of suicide. It then gives them the skills to connect with a person at risk of suicide and to understand and clarify that risk, steps to keep that person safe for a specific period and then provide them with the resources or links required for further help. The program enables the development of knowledge through interactive strategies through cultural recognition and empowerment of participants. Based on a social-enterprise model, I-ASIST has been translated into a certified program supported by LivingWorks Australia. Conclusion: Based on a strengths-based and self-determination model of co-design, this grass roots innovative framework creates suicide safer communities.

Published
2022

17. Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies

Author

Niu, Tianhua, Liu, Ning, Zhao, Ming, Xie, Guie, Zhang, Lei, Li, Jian, Pei, Yu-Fang, Shen, Hui, Fu, Xiaoying, He, Hao, Lu, Shan, Chen, Xiang-Ding, Tan, Li-Jun, Yang, Tie-Lin, Guo, Yan, Leo, Paul J., Duncan, Emma L., Shen, Jie, Guo, Yan-Fang, Nicholson, Geoffrey C., Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Hu, Xiang, Das, Partha M., Tian, Qing, Zhu, Xue-Zhen, Papasian, Christopher J., Brown, Matthew A., Uitterlinden, André G., Wang, Yu-Ping, Xiang, Shuanglin, and Deng, Hong-Wen

Published
2015
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25. Annual high-dose oral vitamin D and falls and fractures in older women

Author

Sanders, Kerrie M., Stuart, Amanda L., Williamson, Elizabeth J., Kotowicz, Mark A., Simpson, Julie A., Young, Doris, and Nicholson, Geoffrey C.

Subjects
Falls (Accidents) -- Risk factors, Middle aged women -- Care and treatment, Vitamin D3 -- Dosage and administration, Fractures -- Risk factors
Abstract

The impact of the high-dose oral vitamin D on the occurrence and risk of falls and fractures in older women is determined. The results prove that annual oral dosage of choleacalciferol in the older community-dwelling women increases the risk of fractures.

Published
2010

27. Multistage genome-wide association meta-analyses identified two new loci for bone mineral density

Author

Zhang, Lei, Choi, Hyung Jin, Estrada, Karol, Leo, Paul J., Li, Jian, Pei, Yu-Fang, Zhang, Yinping, Lin, Yong, Shen, Hui, Liu, Yao-Zhong, Liu, Yongjun, Zhao, Yingchun, Zhang, Ji-Gang, Tian, Qing, Wang, Yu-ping, Han, Yingying, Ran, Shu, Hai, Rong, Zhu, Xue-Zhen, Wu, Shuyan, Yan, Han, Liu, Xiaogang, Yang, Tie-Lin, Guo, Yan, Zhang, Feng, Guo, Yan-fang, Chen, Yuan, Chen, Xiangding, Tan, Lijun, Zhang, Lishu, Deng, Fei-Yan, Deng, Hongyi, Rivadeneira, Fernando, Duncan, Emma L, Lee, Jong Young, Han, Bok Ghee, Cho, Nam H., Nicholson, Geoffrey C., McCloskey, Eugene, Eastell, Richard, Prince, Richard L., Eisman, John A., Jones, Graeme, Reid, Ian R., Sambrook, Philip N., Dennison, Elaine M., Danoy, Patrick, Yerges-Armstrong, Laura M., Streeten, Elizabeth A., Hu, Tian, Xiang, Shuanglin, Papasian, Christopher J., Brown, Matthew A., Shin, Chan Soo, Uitterlinden, André G., and Deng, Hong-Wen

Published
2014
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29. Characteristics of early Paget's disease in SQSTMI mutation carriers:baseline analysis of the ZIPP study cohort

Author

Cronin, Owen, Subedi, Deepak, Forsyth, Laura, Goodman, Kirsteen, Lewis, Steff C., Keerie, Catriona, Walker, Allan, Porteous, Mary, Cetnarskyj, Roseanne, Ranganath, Lakshminarayan R., Selby, Peter, Hampson, Geeta, Chandra, Rama, Ho, Shu, Tobias, Jonathan H, Young-Min, Steven, McKenna, Malachi J., Crowley, Rachel K., Fraser, William D, Tang, Jonathan, Gennari, Luigi, Nuti, Rannuccio, Brandi, Maria Luisa, Del Pino-Montes, Javier, Devogelaer, Jean-Pierre, Durnez, Anne, Isaia, Giovanni Carlo, Di Stefano, Marco, Rubio, Josep Blanch, Guañabens, Núria, Seibel, Markus J., Walsh, John P, Kotowicz, Mark A., Nicholson, Geoffrey C., Duncan, Emma L, Major, Gabor, Horne, Anne, Gilchrist, Nigel L., and Ralston, Stuart H.

Subjects
SQSTM1, genetics, Paget’s disease of bone, radionuclide imaging
Abstract

Objectives: Mutations in SQSTM1 are strongly associated with Paget’s disease of bone (PDB) but little is known about the clinical characteristics of those with early disease. Methods: Radionuclide bone scans, biochemical markers of bone turnover and clinical characteristics were analysed in SQSTM1 mutation carriers who took part in the Zoledronic acid in the Prevention of Paget’s disease (ZiPP) study. Results: We studied 222 individuals of whom 54.9% were female with average (± sem) age of 50.1± 0.6 years. Twelve SQSTM1 mutations were observed, including p.Pro392Leu which was present in 141/222 (63.5%) subjects. Bone scan examination revealed evidence of PDB in 20 subjects (9.0%) of which 9 (50%) had a single affected site. Participants with lesions were older than those without lesions but the difference was not significant (53.6 ± 9.1 vs. 49.8 ± 8.9, p=0.07). The mean age of participants with lesions was not significantly different from the age at which their parents were diagnosed with PDB (55 years vs. 59 years, p=0.25). All individuals with lesions were asymptomatic. Serum concentrations of total alkaline phosphatase (ALP) normalised to the upper limit of normal in each centre were higher in those with lesions (0.75 ± 0.69 vs 0.42 ± 0.29; pConclusions: Asymptomatic PDB is present in about 9% of SQSTM1 mutation carriers by the fifth decade. Further follow up of this cohort will provide important information on the natural history of early PDB and its response to treatment

Published
2020

30. Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort

Author

Cronin, Owen, Subedi, Deepak, Forsyth, Laura, Goodman, Kirsteen, Lewis, Steff C., Keerie, Catriona, Walker, Allan, Porteous, Mary, Cetnarskyj, Roseanne, Ranganath, Lakshminarayan R., Selby, Peter L., Hampson, Geeta, Chandra, Rama, Ho, Shu, Tobias, Jon H., Young-Min, Steven A., McKenna, Malachi J., Crowley, Rachel K., Fraser, William D., Tang, Jonathan, Gennari, Luigi, Nuti, Rannuccio, Brandi, Maria Luisa, del Pino-Montes, Javier, Devogelaer, Jean Pierre, Durnez, Anne, Isaia, Giovanni Carlo, Di Stefano, Marco, Rubio, Josep Blanch, Guanabens, Nuria, Seibel, Markus J., Walsh, John P., Kotowicz, Mark A., Nicholson, Geoffrey C., Duncan, Emma L., Major, Gabor, Horne, Anne, Gilchrist, Nigel L., Ralston, Stuart H., Cronin, Owen, Subedi, Deepak, Forsyth, Laura, Goodman, Kirsteen, Lewis, Steff C., Keerie, Catriona, Walker, Allan, Porteous, Mary, Cetnarskyj, Roseanne, Ranganath, Lakshminarayan R., Selby, Peter L., Hampson, Geeta, Chandra, Rama, Ho, Shu, Tobias, Jon H., Young-Min, Steven A., McKenna, Malachi J., Crowley, Rachel K., Fraser, William D., Tang, Jonathan, Gennari, Luigi, Nuti, Rannuccio, Brandi, Maria Luisa, del Pino-Montes, Javier, Devogelaer, Jean Pierre, Durnez, Anne, Isaia, Giovanni Carlo, Di Stefano, Marco, Rubio, Josep Blanch, Guanabens, Nuria, Seibel, Markus J., Walsh, John P., Kotowicz, Mark A., Nicholson, Geoffrey C., Duncan, Emma L., Major, Gabor, Horne, Anne, Gilchrist, Nigel L., and Ralston, Stuart H.

Abstract

Mutations in SQSTM1 are strongly associated with Paget's disease of bone (PDB), but little is known about the clinical characteristics of those with early disease. Radionuclide bone scans, biochemical markers of bone turnover, and clinical characteristics were analyzed in SQSTM1 mutation carriers who took part in the Zoledronic acid in the Prevention of Paget's disease (ZiPP) study. We studied 222 individuals, of whom 54.9% were female, with mean ± SE age of 50.1 ± 0.6 years. Twelve SQSTM1 mutations were observed, including p.Pro392Leu, which was present in 141 of 222 (63.5%) subjects. Bone scan examination revealed evidence of PDB in 20 subjects (9.0%), ten of whom (50%) had a single affected site. Participants with lesions were older than those without lesions but the difference was not significant (53.6 ± 9.1 versus 49.8 ± 8.9; p =.07). The mean age of participants with lesions was not significantly different from the age at which their parents were diagnosed with PDB (55 years versus 59 years, p =.17). All individuals with lesions were asymptomatic. Serum concentrations of total alkaline phosphatase (ALP) normalized to the upper limit of normal in each center were higher in those with lesions (0.75 ± 0.69 versus 0.42 ± 0.29 arbitary units; p <.0001). Similar findings were observed for other biochemical markers of bone turnover, but the sensitivity of ALP and other markers in detecting lesions was poor. Asymptomatic PDB is present in about 9% of SQSTM1 mutation carriers by the fifth decade. Further follow-up of this cohort will provide important information on the natural history of early PDB and its response to treatment.

Published
2020

31. Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort.

Author

UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie, Cronin, Owen, Subedi, Deepak, Forsyth, Laura, Goodman, Kirsteen, Lewis, Steff C, Keerie, Catriona, Walker, Allan, Porteous, Mary, Cetnarskyj, Roseanne, Ranganath, Lakshminarayan R, Selby, Peter L, Hampson, Geeta, Chandra, Rama, Ho, Shu, Tobias, Jon H, Young-Min, Steven A, McKenna, Malachi J, Crowley, Rachel K, Fraser, William D, Tang, Jonathan, Gennari, Luigi, Nuti, Rannuccio, Brandi, Maria-Luisa, Del Pino-Montes, Javier, Devogelaer, Jean-Pierre, Durnez, Anne, Isaia, Giovanni Carlo, Di Stefano, Marco, Rubio, Josep Blanch, Guanabens, Nuria, Seibel, Markus J, Walsh, John P, Kotowicz, Mark A, Nicholson, Geoffrey C, Duncan, Emma L, Major, Gabor, Horne, Anne, Gilchrist, Nigel L, Ralston, Stuart H, UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie, Cronin, Owen, Subedi, Deepak, Forsyth, Laura, Goodman, Kirsteen, Lewis, Steff C, Keerie, Catriona, Walker, Allan, Porteous, Mary, Cetnarskyj, Roseanne, Ranganath, Lakshminarayan R, Selby, Peter L, Hampson, Geeta, Chandra, Rama, Ho, Shu, Tobias, Jon H, Young-Min, Steven A, McKenna, Malachi J, Crowley, Rachel K, Fraser, William D, Tang, Jonathan, Gennari, Luigi, Nuti, Rannuccio, Brandi, Maria-Luisa, Del Pino-Montes, Javier, Devogelaer, Jean-Pierre, Durnez, Anne, Isaia, Giovanni Carlo, Di Stefano, Marco, Rubio, Josep Blanch, Guanabens, Nuria, Seibel, Markus J, Walsh, John P, Kotowicz, Mark A, Nicholson, Geoffrey C, Duncan, Emma L, Major, Gabor, Horne, Anne, Gilchrist, Nigel L, and Ralston, Stuart H

Abstract

Mutations in SQSTM1 are strongly associated with Paget's disease of bone (PDB), but little is known about the clinical characteristics of those with early disease. Radionuclide bone scans, biochemical markers of bone turnover, and clinical characteristics were analyzed in SQSTM1 mutation carriers who took part in the Zoledronic acid in the Prevention of Paget's disease (ZiPP) study. We studied 222 individuals, of whom 54.9% were female, with mean ± SE age of 50.1 ± 0.6 years. Twelve SQSTM1 mutations were observed, including p.Pro392Leu, which was present in 141 of 222 (63.5%) subjects. Bone scan examination revealed evidence of PDB in 20 subjects (9.0%), ten of whom (50%) had a single affected site. Participants with lesions were older than those without lesions but the difference was not significant (53.6 ± 9.1 versus 49.8 ± 8.9; p = .07). The mean age of participants with lesions was not significantly different from the age at which their parents were diagnosed with PDB (55 years versus 59 years, p = .17). All individuals with lesions were asymptomatic. Serum concentrations of total alkaline phosphatase (ALP) normalized to the upper limit of normal in each center were higher in those with lesions (0.75 ± 0.69 versus 0.42 ± 0.29 arbitary units; p < .0001). Similar findings were observed for other biochemical markers of bone turnover, but the sensitivity of ALP and other markers in detecting lesions was poor. Asymptomatic PDB is present in about 9% of SQSTM1 mutation carriers by the fifth decade. Further follow-up of this cohort will provide important information on the natural history of early PDB and its response to treatment. © 2020 The Authors. Journal of Bone and Mineral Research published by American Society for Bone and Mineral Research.

Published
2020

35. Path to Eldership: Results From a Contemporary Indigenous Australian Community.

Author

Eades, Owen, Toombs, Maree R, Cinelli, Renata, Easton, Caitlin, Hampton, Ron, Nicholson, Geoffrey C, McCabe, Marita P, and Busija, Lucy

Subjects
INDIGENOUS Australians, FOCUS groups, RESEARCH methodology, ATTITUDE (Psychology), INTERVIEWING, COMMUNITIES, GROUP identity, QUALITATIVE research, ACTION research, DATA analysis software, THEMATIC analysis, ABORIGINAL Australians
Abstract

Background and Objectives Traditionally, Elders have held a unique social position within Indigenous Australian communities. This study aimed to identify the characteristics of Indigenous Elders that distinguish them from other people in their community. Research Design and Methods Using a community-based participatory research approach, the study was conducted in a regional Indigenous community in Southeast Queensland. The design and data collection methods were informed through a community forum, known as a "Yarning Circle." One-on-one semistructured interviews and focus groups with community members were carried out by Indigenous researchers. Data were analyzed in NVivo software, using thematic analysis (TA), with themes derived directly from data. Results Fifty individuals participated in the study. The participants' median age was 45 years (range 18–76 years) and 31 (62%) were female. TA identified 3 overarching themes related to Elders' attributes: (a) distinguishing characteristics of Elders (subthemes of respect, leadership, reciprocity, life experience, approachability, connection to traditional culture, and transmitting knowledge through generations); (b) how one becomes an Elder (earnt eldership, permanency of eldership, mentors and role models, age); and (c) threats to Elders' influence (intergenerational gap, community disconnect, and cultural trauma). Discussion and Implications Our results build a greater understanding of the contemporary role of Indigenous Australian Elders, which will inform the development of future interventions directed at strengthening Elders' role in their communities. [ABSTRACT FROM AUTHOR]

Published
2022
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39. Characteristics of Early Paget's Disease inSQSTM1Mutation Carriers: Baseline Analysis of theZiPPStudy Cohort

Author

Cronin, Owen, primary, Subedi, Deepak, additional, Forsyth, Laura, additional, Goodman, Kirsteen, additional, Lewis, Steff C, additional, Keerie, Catriona, additional, Walker, Allan, additional, Porteous, Mary, additional, Cetnarskyj, Roseanne, additional, Ranganath, Lakshminarayan R, additional, Selby, Peter L, additional, Hampson, Geeta, additional, Chandra, Rama, additional, Ho, Shu, additional, Tobias, Jon H, additional, Young‐Min, Steven A, additional, McKenna, Malachi J, additional, Crowley, Rachel K, additional, Fraser, William D, additional, Tang, Jonathan, additional, Gennari, Luigi, additional, Nuti, Rannuccio, additional, Brandi, Maria‐Luisa, additional, Pino‐Montes, Javier, additional, Devogelaer, Jean‐Pierre, additional, Durnez, Anne, additional, Isaia, Giovanni Carlo, additional, Di Stefano, Marco, additional, Rubio, Josep Blanch, additional, Guanabens, Nuria, additional, Seibel, Markus J, additional, Walsh, John P, additional, Kotowicz, Mark A, additional, Nicholson, Geoffrey C, additional, Duncan, Emma L, additional, Major, Gabor, additional, Horne, Anne, additional, Gilchrist, Nigel L, additional, and Ralston, Stuart H, additional

Published
2020
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48. Zoledronate in the prevention of Paget's (ZiPP): Protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone

Author

Cronin, Owen, Forsyth, Laura, Goodman, Kirsteen, Lewis, Steff C., Keerie, Catriona, Walker, Allan, Porteous, Mary, Cetnarskyj, Roseanne, Ranganath, Lakshminarayan R., Selby, Peter L., Hampson, Geeta, Chandra, Rama, Ho, Shu, Tobias, Jon H., Young-Min, Steven, McKenna, Malachi J., Crowley, Rachel K., Fraser, William D., Gennari, Luigi, Nuti, Ranuccio, Brandi, Maria Luisa, Del Pino-Montes, Javier, Devogelaer, Jean Pierre, Durnez, Anne, Isaia, Giancarlo, Di Stefano, Marco, Guañabens, Núria, Blanch, Josep, Seibel, Markus J., Walsh, John P., Kotowicz, Mark A., Nicholson, Geoffrey C., Duncan, Emma L., Major, Gabor, Horne, Anne, Gilchrist, Nigel L., Boers, Maarten, Murray, Gordon D., Charnock, Keith, Wilkinson, Diana, Russell, R. Graham G., Ralston, Stuart H., Cronin, Owen, Forsyth, Laura, Goodman, Kirsteen, Lewis, Steff C., Keerie, Catriona, Walker, Allan, Porteous, Mary, Cetnarskyj, Roseanne, Ranganath, Lakshminarayan R., Selby, Peter L., Hampson, Geeta, Chandra, Rama, Ho, Shu, Tobias, Jon H., Young-Min, Steven, McKenna, Malachi J., Crowley, Rachel K., Fraser, William D., Gennari, Luigi, Nuti, Ranuccio, Brandi, Maria Luisa, Del Pino-Montes, Javier, Devogelaer, Jean Pierre, Durnez, Anne, Isaia, Giancarlo, Di Stefano, Marco, Guañabens, Núria, Blanch, Josep, Seibel, Markus J., Walsh, John P., Kotowicz, Mark A., Nicholson, Geoffrey C., Duncan, Emma L., Major, Gabor, Horne, Anne, Gilchrist, Nigel L., Boers, Maarten, Murray, Gordon D., Charnock, Keith, Wilkinson, Diana, Russell, R. Graham G., and Ralston, Stuart H.

Abstract

Introduction Paget's disease of bone (PDB) is characterised by increased and disorganised bone remodelling affecting one or more skeletal sites. Complications include bone pain, deformity, deafness and pathological fractures. Mutations in sequestosome-1 (SQSTM1) are strongly associated with the development of PDB. Bisphosphonate therapy can improve bone pain in PDB, but there is no evidence that treatment alters the natural history of PDB or prevents complications. The Zoledronate in the Prevention of Paget's disease trial (ZiPP) will determine if prophylactic therapy with the bisphosphonate zoledronic acid (ZA) can delay or prevent the development of PDB in people who carry SQSTM1 mutations. Methods and analysis People with a family history of PDB aged >30 years who test positive for SQSTM1 mutations are eligible to take part. At the baseline visit, participants will be screened for the presence of bone lesions by radionuclide bone scan. Biochemical markers of bone turnover will be measured and questionnaires completed to assess pain, health-related quality of life (HRQoL), anxiety and depression. Participants will be randomised to receive a single intravenous infusion of 5 mg ZA or placebo and followed up annually for between 4 and 8 years at which point baseline assessments will be repeated. The primary endpoint will be new bone lesions assessed by radionuclide bone scan. Secondary endpoints will include changes in biochemical markers of bone turnover, pain, HRQoL, anxiety, depression and PDB-related skeletal events. Ethics and dissemination The study was approved by the Fife and Forth Valley Research Ethics Committee on 22 December 2008 (08/S0501/84). Following completion of the trial, a manuscript will be submitted to a peer-reviewed journal. The results of this trial will inform clinical practice by determining if early intervention with ZA in presymptomatic individuals with SQSTM1 mutations can prevent or slow the development of bone lesions with an advers

Published
2019

49. In Reply

Author

Pasco, Julie A., Kotowicz, Mark A., Henry, Margaret J., Sanders, Kerrie M., and Nicholson, Geoffrey C.

Published
2002

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