Article
Biochemistry & Molecular Biology
Marco Ponzetti, Argia Ucci, Antonio Maurizi, Luca Giacchi, Anna Teti, Nadia Rucci
Summary: The study found that Lcn2 plays a significant role in DMD, with its overexpression being associated with bone loss. Ablating Lcn2 can reduce bone loss and improve muscle function, making it a potential therapeutic target for treating DMD-induced bone loss.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Kim Phung, Laura McAdam, Jinhui Ma, Hugh J. McMillan, Stefan Jackowski, Maya Scharke, Mary-Ann Matzinger, Nazih Shenouda, Khaldoun Koujok, Jacob L. Jaremko, Kevin Smit, Scott Walker, Colleen Hartigan, Nasrin Khan, Victor N. Konji, Lynn MacLeay, Marika Page, Elizabeth Sykes, Marie-Eve Robinson, Nathalie Alos, Elizabeth A. Cummings, Josephine Ho, Anne Marie Sbrocchi, Robert Stein, David Saleh, B. Catharine Craven, Utkarsh J. Dang, Kerry Siminoski, Frank Rauch, Leanne M. Ward
Summary: This study found that markers of systemic glucocorticoid exposure, such as shorter stature, greater bone age delay, and lower lumbar spine bone mineral density, were associated with spine fragility in patients with DMD.
OSTEOPOROSIS INTERNATIONAL
(2023)
Article
Endocrinology & Metabolism
Kim Phung, Laura McAdam, Jinhui Ma, Hugh J. McMillan, Stefan Jackowski, Maya Scharke, Mary-Ann Matzinger, Nazih Shenouda, Khaldoun Koujok, Jacob L. Jaremko, Nagwa Wilson, Scott Walker, Colleen Hartigan, Nasrin Khan, Marika Page, Marie-Eve Robinson, David S. Saleh, Kevin Smit, Frank Rauch, Kerry Siminoski, Leanne M. Ward
Summary: This study investigated factors associated with incident vertebral fractures (VFs) in Duchenne muscular dystrophy patients. The results showed that spinal deformity index, non-fracture indicators, and bone age delay were all associated with incident VFs. Therefore, preventing first fractures is necessary in high-risk populations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Clinical Neurology
Giulio Gadaleta, Guido Urbano, Chiara Brusa, Rossella D'Alessandro, Enrica Rolle, Ilaria Cavallina, Alessio Mattei, Fulvia Ribolla, Claudia Raineri, Stefano Pidello, Liliana Vercelli, Federica S. Ricci, Tiziana E. Mongini
Summary: The clinical characteristics of adults with DMD include mechanical ventilation, swallowing and nutritional issues, and bone density alterations. Other issues include respiratory infections, gastrointestinal symptoms, metabolic acidosis, psychiatric symptoms, and chronic pain. Patients have a negative perception of their physical health but a more positive assessment of their mental health.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Medicine, Research & Experimental
Cedric Happi Mbakam, Joel Rousseau, Yaoyao Lu, Anne Bigot, Kamel Mamchaoui, Vincent Mouly, Jacques P. Tremblay
Summary: In this study, researchers used CRISPR-Cas9 prime editing technology to correct a mutation in the DMD gene, resulting in improved editing efficiency and restoration of dystrophin protein expression. Optimization of the reverse transcription template sequence led to a significant increase in the editing percentage of the target nucleotide.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Endocrinology & Metabolism
Chuan Liu, Dan-Dan Yang, Lu Zhang, Xian-Gao Lei, Feng-Lin Jia, Yi Liao, Xi-Jian Chen, Gang Ning, Wen Luo, Hai-Bo Qu
Summary: Lumbar bone mineral density (BMD) gradually decreases in boys with Duchenne muscular dystrophy (DMD), with age and functional activity scores (FMSs) identified as the main contributors to BMD loss. Early recognition of risk factors associated with BMD loss may help optimize bone health.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Medicine, General & Internal
Yuta Horikoshi, Norifumi Kuratani, Ken Tateno, Hiroshi Hoshijima, Tina Nakamura, Tsutomu Mieda, Katsushi Doi, Hiroshi Nagasaka
Summary: The use of remimazolam in pediatric patients with DMD undergoing general anesthesia was shown to be safe and effective, with careful monitoring of drug dosages and anesthesia depth being essential during the procedure.
Article
Medicine, Research & Experimental
Antimo Moretti, Sara Liguori, Marco Paoletta, Francesca Gimigliano, Giovanni Iolascon
Summary: This study reported for the first time that neridronate may slow bone loss in GC-treated patients with DMD at 1-year follow-up.
ADVANCES IN THERAPY
(2022)
Article
Pharmacology & Pharmacy
Zeren Sun, Dengqiu Xu, Lei Zhao, Xihua Li, Sijia Li, Xiaofei Huang, Chunjie Li, Lixin Sun, Bing Liu, Zhenzhou Jiang, Luyong Zhang
Summary: The study found that fenofibrate can promote the differentiation of myofibers by down-regulating the expression of myostatin protein in myoblasts, significantly improving muscle function and reducing muscle damage in mdx mice, along with anti-inflammatory effects.
BRITISH JOURNAL OF PHARMACOLOGY
(2022)
Article
Clinical Neurology
Craig M. Zaidman, Crystal M. Proud, Craig M. Mcdonald, Kelly J. Lehman, Natalie L. Goedeker, Stefanie Mason, Alexander P. Murphy, Maitea Guridi, Shufang Wang, Carol Reid, Eddie Darton, Christoph Wandel, Sarah Lewis, Jyoti Malhotra, Danielle A. Griffin, Rachael A. Potter, Louise R. Rodino-Klapac, Jerry R. Mendell
Summary: The study ENDEAVOR demonstrated that the commercial process delandistrogene moxeparvovec is safe and effective in improving micro-dystrophin expression in patients with Duchenne muscular dystrophy. After 12 weeks of treatment, significant improvements were observed in micro-dystrophin expression, as well as patient's functional outcomes and quality of life at 1 year.
ANNALS OF NEUROLOGY
(2023)
Article
Endocrinology & Metabolism
Leanne M. Ward, Anup Choudhury, Nathalie Alos, David A. Cabral, Celia Rodd, Anne Marie Sbrocchi, Shayne Taback, Raja Padidela, Nick J. Shaw, Eva Hosszu, Mikhail Kostik, Ekaterina Alexeeva, Kebashni Thandrayen, Nazih Shenouda, Jacob L. Jaremko, Gangadhar Sunkara, Sarfaraz Sayyed, R. Paul Aftring, Craig F. Munns
Summary: In this study, children with GIO who received intravenous zoledronic acid (ZA) showed a significant increase in lumbar spine bone density z score (LSBMDZ) compared to those who received a placebo after 1 year of treatment. Most adverse events occurred after the first infusion.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Rehabilitation
Meaghan Walker, Bhavnita Mistry, Reshma Amin, Laura McAdam, Daina Kalnins, Toni Lui, Amy C. McPherson
Summary: The study found that parents, children, and healthcare professionals treating children with Duchenne muscular dystrophy have diverging perspectives and priorities around weight management, emphasizing the importance of integrating family priorities into care, even when they are not aligned with guideline recommendations.
DISABILITY AND REHABILITATION
(2022)
Article
Pediatrics
Abdulaziz S. AlSaman, Fouad Al Ghamdi, Ahmed K. Bamaga, Nahla AlShaikh, Mohammed Al Muqbil, Osama Muthaffar, Fahad A. Bashiri, Baleegh Ali, Arzu Mulayim, Elena Heider, Abdullah A. Alshahrani, Mohammed A. Al Muhaizea
Summary: This study conducted an observational research on DMD patients in Saudi Arabia and found that the diagnosis age of DMD is relatively late, indicating a need for improved adherence to international DMD standard of care guidelines. Therefore, there is an urgent requirement for improved DMD education and awareness among healthcare professionals and the public in Saudi Arabia.
FRONTIERS IN PEDIATRICS
(2022)
Article
Clinical Neurology
Andrea Barp, Elena Carraro, Giovanni Goggi, Andrea Lizio, Alice Zanolini, Carmelo Messina, Silvia Perego, Chiara Verdelli, Giovanni Lombardi, Valeria Ada Sansone, Sabrina Corbetta
Summary: This study analyzed body composition and myokine levels in BMD patients and investigated the association between DXA parameters, functional motor assessments, and myokine levels. The results showed that DXA is a useful tool for evaluating body composition in BMD patients, and the decrease in bone density and lean body mass is associated with a reduction in motor function in BMD.
Review
Cell Biology
Elisa Domi, Malvina Hoxha, Emanuela Prendi, Bruno Zappacosta
Summary: Duchenne muscular dystrophy is a muscular disease with no cure, and SIRT1 has been identified as a potential therapeutic target for the condition. Activation of SIRT1 improves muscle function, while its inhibition leads to muscle fragility.
Editorial Material
Clinical Neurology
Maryam Oskoui, Hernan Gonorazky, Hugh J. McMillan, James J. Dowling, Reshma Amin, Cynthia Gagnon, Kathryn Selby
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Kristina M. Joyal, Jessica MacGregor, Lamia M. Hayawi, Richard J. Webster, Hugh J. McMillan
Summary: This study reviewed the volume and referral sources of nerve conduction studies (NCS) and electromyography (EMG) at a pediatric tertiary care hospital from 2014 to 2019. The findings indicate that NCS/EMG remains a valuable diagnostic tool, especially for acquired neuromuscular conditions, and can be well tolerated in children of all ages without the need for sedation.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2022)
Article
Cardiac & Cardiovascular Systems
Monique M. Gardner, Jennifer Faerber, Andrew C. Glatz, Tamar J. Preminger, Catherine M. Avitabile, Somya Shankar, Rachel J. Shustak, David R. Weber, Susan Schachtner, Chitra Ravishankar, David J. Goldberg
Summary: This observational pilot study found an inverse correlation between brain natriuretic peptide (BNP) and growth factors in infants with shunt-dependent or ductal-dependent single ventricle heart disease. The findings suggest that heart failure may play a mechanistic role in impaired growth.
AMERICAN JOURNAL OF CARDIOLOGY
(2022)
Article
Endocrinology & Metabolism
Leanne M. Ward, Francis H. Glorieux, Michael P. Whyte, Craig F. Munns, Anthony A. Portale, Wolfgang Hoegler, Jill H. Simmons, Gary S. Gottesman, Raja Padidela, Noriyuki Namba, Hae Il Cheong, Ola Nilsson, Meng Mao, Angel Chen, Alison Skrinar, Mary Scott Roberts, Erik A. Imel
Summary: Burosumab treatment appears to improve outcomes in both younger and older children with XLH, including rickets, lower limb deformities, growth, and alkaline phosphatase, compared with Pi/D.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Respiratory System
Sherri L. Katz, Jean K. Mah, Hugh J. McMillan, Craig Campbell, Vid Bijelic, Nick Barrowman, Franco Momoli, Henrietta Blinder, Shawn D. Aaron, Laura C. McAdam, The Thanh Diem Nguyen, Mark Tarnopolsky, David F. Wensley, David Zielinski, Louise Rose, Nicole Sheers, David J. Berlowitz, Lisa Wolfe, Doug McKim
Summary: This randomized controlled trial aimed to determine whether twice-daily lung volume recruitment (LVR) therapy attenuates the decline in forced vital capacity (FVC) at 2 years in boys with Duchenne muscular dystrophy (DMD). The results showed that there was no difference in decline in FVC with the use of twice-daily LVR for boys with relatively normal lung function.
Article
Endocrinology & Metabolism
Jagdeesh Ullal, Katherine Kutney, Kristen M. Williams, David R. Weber
Summary: The emergence of highly effective CFTR modulator therapies has slowed down the progression of pulmonary complications in cystic fibrosis patients. Cystic fibrosis bone disease (CFBD) has gained increased attention due to the longer lifespan of these patients. CFBD is a complex and multifactorial disease characterized by hypomineralized bone, resulting in poor bone strength and structure that make individuals prone to fractures. The management of CFBD requires individualized approaches for different age groups, with careful consideration of the risks associated with long-term use of bone-active medications. While bisphosphonates are currently the mainstay of treatment, the long-term effects of these medications in CF patients are still not fully understood. This review discusses newer agents for osteoporosis treatment and highlights the need for further research on monoclonal antibody treatments and anabolic bone therapy in CFBD. Screening, non-pharmacologic treatments, and various pharmacotherapy options for CFBD are also summarized. The impact of CFTR modulators on bone health is explored, but additional long-term trials are needed to fully understand the effects of these medications.
JOURNAL OF CLINICAL AND TRANSLATIONAL ENDOCRINOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Melissa Wigderson, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Summary: Onasemnogene abeparvovec was effective and well tolerated for presymptomatic infants at risk of SMA type 2, underscoring the urgency of early identification and intervention.
Article
Biochemistry & Molecular Biology
Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni, Kayoko Saito, Jerry R. Mendell, Laurent Servais, Hugh J. McMillan, Richard S. Finkel, Kathryn J. Swoboda, Jennifer M. Kwon, Craig M. Zaidman, Claudia A. Chiriboga, Susan T. Iannaccone, Jena M. Krueger, Julie A. Parsons, Perry B. Shieh, Sarah Kavanagh, Sitra Tauscher-Wisniewski, Bryan E. McGill, Thomas A. Macek
Summary: SPR1NT (NCT03505099) is a Phase III study investigating the efficacy and safety of onasemnogene abeparvovec in presymptomatic children with biallelic SMN1 mutations. The results showed that all 14 infants enrolled in the study were able to sit independently for at least 30 seconds within 18 months and none required permanent ventilation. The treatment was well tolerated and effective for children expected to develop SMA type 1.
Article
Endocrinology & Metabolism
Karissa Ludwig, Zenghui Wu, Ghalib Bardai, Patrizia Mason, Leanne M. Ward, Pierre Moffatt, Frank Rauch
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Endocrinology & Metabolism
Kim Phung, Laura McAdam, Jinhui Ma, Hugh J. McMillan, Stefan Jackowski, Maya Scharke, Mary-Ann Matzinger, Nazih Shenouda, Khaldoun Koujok, Jacob L. Jaremko, Nagwa Wilson, Scott Walker, Colleen Hartigan, Nasrin Khan, Marika Page, Marie-Eve Robinson, David S. Saleh, Kevin Smit, Frank Rauch, Kerry Siminoski, Leanne M. Ward
Summary: This study investigated factors associated with incident vertebral fractures (VFs) in Duchenne muscular dystrophy patients. The results showed that spinal deformity index, non-fracture indicators, and bone age delay were all associated with incident VFs. Therefore, preventing first fractures is necessary in high-risk populations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Kayla Durkin Petkus, Garey Noritz, Laurie Glader
Summary: Sialorrhea is a common problem in children with neurodevelopmental disabilities, and this study investigates the use of sublingual atropine (SLA) as a potential treatment. The study found varying prescribing patterns and highlights the need for further research and evidence to support its safe and effective use.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Endocrinology & Metabolism
Joel A. Vanderniet, Vivian Szymczuk, Wolfgang Hogler, Signe S. Beck-Nielsen, Suma Uday, Nadia Merchant, Janet L. Crane, Leanne M. Ward, Alison M. Boyce, Craig F. Munns
Summary: Denosumab is an effective treatment for RANKL-mediated disorders in children and adolescents, although it is not curative and may be used in combination with surgical or other medical treatments. Multidisciplinary planning and expert oversight are necessary to manage the risk of mineral abnormalities. More research is needed to determine optimal treatment regimens and minimize risks.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Meeting Abstract
Endocrinology & Metabolism
Stefan Jackowski, Utkarsh Dang, Jinhui Ma, Maya Scharke, Victor Konji, Jacob Jaremko, Khaldoun Koujok, Mary-Ann Matzinger, Nazih Shenouda, Scott Walker, Colleen Hartigan, Lynn MacLeay, Nasrin Khan, Elizabeth Sykes, Hugh McMillan, Kerry Siminoski, Pradeep Bista, Maria Mancini, Joanne Donovan, Leanne Ward
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Meeting Abstract
Endocrinology & Metabolism
Stefan Jackowski, Utkarsh Dang, Maya Scharke, Victor Konji, Jacob Jaremko, Khaldoun Koujok, Mary-Ann Matzinger, Nazih Shenouda, Nasrin Khan, Lynn MacLeay, Elizabeth Sykes, Hugh McMillan, Kerry Siminoski, Paula Clemens, Michela Guglieri, Jean Mah, Eric Hoffman, Leanne Ward
JOURNAL OF BONE AND MINERAL RESEARCH
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Irit Hochberg, Leigh A. M. Demain, Julie Richer, Kyle Thompson, Waheeda Pagarkar, Agusti Rodriguez-Palmero Seuma, Edgard Verdura, Aurora Pujol, Albert Amberger, Andrea J. Deutschmann, Sandra Demetz, James O'Sullivan, Meredith Gillespie, Inna A. Belyantseva, Hugh J. McMillan, Melanie Barzik, Jill E. Urquhart, Alessandro Rea, Glenda M. Beaman, Simon G. Williams, Sanjeev S. Bhaskar, Isabella R. Lawrence, Emma M. Jenkinson, Jessica L. Zambonin, Zeev Blumenfeld, Sergey Yalonetsky, Stephanie Oerum, Walter Rossmanith, Wyatt W. Yue, Johannes Zschocke, Kevin J. Munro, Brendan J. Battersby, Thomas B. Friedman, Robert W. Taylor, Raymond T. O'Keefe, William G. Newman
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)