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
Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith, Iain Horrocks, Richard S. Finkel, Jean K. Mah, Nicolas Deconinck, Nathalie Goemans, Jana Haberlova, Volker Straub, Laurel J. Mengle-Gaw, Benjamin D. Schwartz, Amy D. Harper, Perry B. Shieh, Liesbeth De Waele, Diana Castro, Michelle L. Yang, Monique M. Ryan, Craig M. McDonald, Mar Tulinius, Richard Webster, Hugh J. McMillan, Nancy L. Kuntz, Vashmi K. Rao, Giovanni Baranello, Stefan Spinty, Anne-Marie Childs, Annie M. Sbrocchi, Kathryn A. Selby, Migvis Monduy, Yoram Nevo, Juan J. Vilchez-Padilla, Andres Nascimento-Osorio, Erik H. Niks, Imelda J. M. de Groot, Marina Katsalouli, Meredith K. James, Johannes van den Anker, Jesse M. Damsker, Alexandra Ahmet, Leanne M. Ward, Mark Jaros, Phil Shale, Utkarsh J. Dang, Eric P. Hoffman
Summary: This study aimed to investigate the efficacy and safety of a novel corticosteroidal anti-inflammatory drug called vamorolone in boys with Duchenne muscular dystrophy (DMD). The results showed that vamorolone demonstrated comparable efficacy to prednisone but with better safety profile over a 24-week treatment period, with less impact on growth and bone metabolism.
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
Clinical Neurology
Gholamreza Zamani, Sareh Hosseinpour, Mahmoud Reza Ashrafi, Mahmoud Mohammadi, Reza Shervin Badv, Ali Reza Tavasoli, Masood Ghahvechi Akbari, Ali Hosseini Bereshneh, Reza Azizi Malamiri, Morteza Heidari
Summary: This study investigated disease progression and genetic patterns in Iranian ambulant boys with DMD, finding a significant correlation between contracture and mutation type.
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
Genetics & Heredity
Georgia Stimpson, Sarah Raquq, Mary Chesshyre, Mary Fewtrell, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Vandana Ayyar Gupta, Ramona De Amicis, Francesco Muntoni, Giovanni Baranello
Summary: The objective of this study was to analyze growth data (weight, height, and BMI) in ambulatory boys aged 5-12 years with Duchenne muscular dystrophy (DMD) using retrospective, observational, longitudinal data. The study considered glucocorticoids use, dystrophin isoforms, amenability to exon skipping drug subgroups, and the impact of growth on loss of ambulation. The results showed that boys in the daily regime subgroups had slower yearly height growth compared to those who were not treated. Boys with affected expression of certain dystrophin isoforms were shorter than those with unaffected expression. Increased weight was not associated with earlier loss of ambulation, but taller boys at the age of 10-11 years were more at risk of losing ambulation.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Neurosciences
Susan Sienko, Cathleen E. Buckon, Anita Bagley, Loretta Staudt, Eileen Fowler, Kent Heberer, Mitell Sison-Williamson, Craig McDonald, Michael D. Sussman
Summary: In boys with DMD, walking energy cost increased over time as velocity decreased. Both NNcost and SMC-EC were identified as appropriate normalization schemes for the longitudinal assessment of energy cost in boys with DMD, showing similar sensitivity to age and differences in sensitivity to changes in height over time.
Article
Medicine, General & Internal
Ai-Ho Liao, Jheng-Ru Chen, Shi-Hong Liu, Chun-Hao Lu, Chia-Wei Lin, Jeng-Yi Shieh, Wen-Chin Weng, Po-Hsiang Tsui
Summary: The study utilized deep learning of ultrasound imaging for classifying patients with DMD, with the VGG-19 model demonstrating satisfactory classification performance and feature recognition for evaluating ambulatory function. This suggests that deep learning of muscle ultrasound is a potential strategy for DMD characterization.
Article
Clinical Neurology
Russell J. Butterfield, Sergey Kirkov, Kristin M. Conway, Nicholas Johnson, Dennis Matthews, Han Phan, Bo Cai, Pangaja Paramsothy, Shiny Thomas, Marcia L. Feldkamp
Summary: This study found no association between corticosteroid use after LOA and the onset of abnormal LV function, but a significant association with a delay in the onset of abnormal ppFVC.
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
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
Neurosciences
Daniela Pia Rosaria Chieffo, Federica Moriconi, Ludovica Mastrilli, Federica Lino, Claudia Brogna, Giorgia Coratti, Michela Altobelli, Valentina Massaroni, Giulia Norcia, Elisabetta Ferraroli, Simona Lucibello, Marika Pane, Eugenio Mercuri
Summary: This study aims to assess language abilities in preschool-aged boys with Duchenne muscular dystrophy (DMD) and normal cognitive quotients. It found that language difficulties are often present in these boys, with abnormalities in auditory attention being a contributing factor. Mutations involving isoforms Dp140 and Dp71 are associated with a higher risk of language difficulties.
Article
Multidisciplinary Sciences
Hiroyasu Muramatsu, Taichi Kuramochi, Hitoshi Katada, Atsunori Ueyama, Yoshinao Ruike, Ken Ohmine, Meiri Shida-Kawazoe, Rie Miyano-Nishizawa, Yuichiro Shimizu, Momoko Okuda, Yuji Hori, Madoka Hayashi, Kenta Haraya, Nobuhiro Ban, Tatsuya Nonaka, Masaki Honda, Hidetomo Kitamura, Kunihiro Hattori, Takehisa Kitazawa, Tomoyuki Igawa, Yoshiki Kawabe, Junichi Nezu
Summary: This study introduces a novel antibody therapeutic approach targeting myostatin, which shows superior muscle strength-improvement effects in mouse disease models and normal cynomolgus monkeys. The effectiveness of GYM329 is attributed to its myostatin specificity and sweeping capability, indicating its potential in improving muscle strength in patients with muscular disorders.
SCIENTIFIC REPORTS
(2021)
Article
Clinical Neurology
Sarah P. Sherlock, Jeffrey Palmer, Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Enrico Bertini, Cuixia Tian, Jean K. Mah, Anna Kostera-Pruszczyk, Francesco Muntoni, Michela Guglieri, John F. Brandsema, Eugenio Mercuri, Russell J. Butterfield, Craig M. McDonald, Lawrence Charnas, Shannon Marraffino
Summary: Quantitative MRI measurements can serve as sensitive and objective biomarkers for evaluating disease progression and functional changes in boys with DMD.
JOURNAL OF NEUROLOGY
(2022)
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.
