Article
Pediatrics
Hagit Levine, Itai Goldfarb, Julia Katz, Moriah Carmeli, Tzippy Shochat, Huda Mussaffi, Sharon Aharoni, Dario Prais, Yoram Nevo
Summary: This study aimed to evaluate the usefulness of various pulmonary function tests in assessing the severity of DMD. The lung function tests were analysed in DMD patients treated at a respiratory neuromuscular clinic. Forced vital capacity, total lung capacity and transcutaneous carbon dioxide were found to be correlated with the clinical severity of the disease. Peak cough flow values, on the other hand, did not show any correlation.
Article
Clinical Neurology
Joel Iff, Charles Gerrits, Yi Zhong, Edward Tuttle, Erica Birk, Yeya Zheng, Xander Paul, Erik K. Henricson, Craig M. McDonald
Summary: This study evaluates the effect of eteplirsen treatment on pulmonary function in patients with DMD and finds that eteplirsen treatment significantly attenuates the decline in forced vital capacity and delays the need for ventilation and cough assist devices compared to standard of care.
Article
Critical Care Medicine
Alison M. Barnard, Donovan J. Lott, Abhinandan Batra, William T. Triplett, Rebecca J. Willcocks, Sean C. Forbes, William D. Rooney, Michael J. Daniels, Barbara K. Smith, Krista Vandenborne, Glenn A. Walter
Summary: Expiratory muscle weakness and impaired airway clearance are early signs of respiratory dysfunction in DMD. This study investigated the changes in abdominal expiratory muscle fatty infiltration over time in DMD and its relation to clinical expiratory function.
Article
Public, Environmental & Occupational Health
Cui Wang, Hongbo Chen, Shaomei Shang
Summary: This cross-sectional study found that 9.9% of Chinese college students had mild depression, and 7.4% had moderate-to-severe depression. Mild depression was associated with reduced FEV1, while moderate-to-severe depression was significantly and negatively related to FEV1. Severity of depression was an independent predictor of decreased FEV1 among Chinese college students.
FRONTIERS IN PUBLIC HEALTH
(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
Clinical Neurology
Gang Peng, Yujing Xin, Xiaojing Cao, Yi Chen, Yi Yang, Xinyuan Zhang, Xiang Zhou
Summary: This study investigated the association between depressive symptoms and lung function in US adults and found a correlation, especially among non-Hispanic White individuals.
JOURNAL OF AFFECTIVE DISORDERS
(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
Clinical Neurology
Eli F. Kelley, Troy J. Cross, Craig M. McDonald, Eric P. Hoffman, Luca Bello
Summary: The study revealed a progressive decline in FVC%p with age in DMD patients, and patients expressing the Gly16 polymorphism had lower FVC%p values at any given age compared to those expressing the Arg16 polymorphism. Therefore, ADRB2 genotyping may be important in managing DMD patients.
NEUROMUSCULAR DISORDERS
(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
Clinical Neurology
Jin A. Yoon, Ho Eun Park, Jinmi Kim, Jungmin Son, Yong Beom Shin
Summary: This study aimed to investigate the cardiac and pulmonary management status of patients with Duchenne muscular dystrophy (DMD) in South Korea. The results showed that a portion of patients underwent cardiac evaluation and pulmonary function tests, but the frequency of these tests was lower than recommended. The trend of medication usage for cardiac management did not change during the study period in South Korea. These findings contribute to recognizing the current status and the importance of applying an anticipatory approach to cardiopulmonary function in DMD patients.
JOURNAL OF CLINICAL NEUROLOGY
(2022)
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
Health Care Sciences & Services
Wen-Hsien Lee, Da-Wei Wu, Ying-Chih Chen, Yi-Hsueh Liu, Wei-Sheng Liao, Szu-Chia Chen, Chih-Hsing Hung, Chao-Hung Kuo, Ho-Ming Su
Summary: In non-diabetic individuals, there is a negative association between lung function and glycemic status, with pulmonary function decreasing over time. Additionally, a decline in forced vital capacity is associated with an increased risk of newly diagnosed type 2 diabetes.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Environmental Sciences
Chin-Chung Shu, Jia-Kun Chen, Po-Chin Huang, Jing-Shiang Hwang, Ta-Chen Su
Summary: The study found a negative association between urinary manganese level and pulmonary function in young adults, even when the level was within normal range. Additionally, women may be more susceptible to manganese compared to men. Further investigation is urgently needed to confirm the respiratory hazardous effects of manganese.
ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY
(2021)
Article
Clinical Neurology
Mathula Thangarajh, Luca Bello, Heather Gordish-Dressman
Summary: This study aimed to assess the impact of dystrophin gene pathogenic variant location on motor function outcomes in boys with Duchenne muscular dystrophy. The longitudinal decline in upper and lower motor function was found to be independent of the proximal or distal location of DMD pathogenic variants. Age played a significant role in motor function outcomes, with boys above 7 years old showing decline regardless of dystrophin pathogenic variant location.
Article
Mathematical & Computational Biology
Maren Hackenberg, Philipp Harms, Michelle Pfaffenlehner, Astrid Pechmann, Janbernd Kirschner, Thorsten Schmidt, Harald Binder
Summary: This article explores the feasibility of using a combination of deep learning and dynamic modeling to analyze longitudinal biomedical data. By combining variational autoencoders with ordinary differential equations, individual-specific latent trajectories can be inferred, and more information about individual dynamics can be obtained by leveraging irregular spacing in time. The results show that this dynamic deep learning approach can be useful even in extreme small data settings, but it needs to be carefully adapted.
BIOMETRICAL JOURNAL
(2022)
Article
Clinical Neurology
David C. Schorling, Heike Koelbel, Andreas Hentschel, Astrid Pechmann, Nancy Meyer, Brunhilde Wirth, Roman Rombo, Albert Sickmann, Janbernd Kirschner, Ulrike Schara-Schmidt, Hanns Lochmuller, Andreas Roos
Summary: This study identified a decline in levels of cathepsin D in cerebrospinal fluid samples of SMA patients under nusinersen treatment, more pronounced in the group of treatment responders. The results suggest that cathepsin D levels could serve as a potential biomarker in SMA, particularly in combination with analysis of peripheral neurofilament light chain in adolescents or alone in adult patients.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Astrid Pechmann, Max Behrens, Katharina Doernbrack, Adrian Tassoni, Sabine Stein, Sibylle Vogt, Daniela Zoeller, Gunther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Inge Schwersenz, Maggie C. Walter, Matthias Baumann, Manuela Baumgartner, Marcus Deschauer, Astrid Eisenkoelbl, Marina Flotats-Bastardas, Andreas Hahn, Veronka Horber, Ralf A. Husain, Sabine Illsinger, Jessika Johannsen, Cornelia Koehler, Heike Koelbel, Monika Mueller, Arpad von Moers, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Eva Stoegmann, Regina Trollmann, Katharina Vill, Claudia Weiss, Gert Wiegand, Andreas Ziegler, Hanns Lochmueller, Janbernd Kirschner
Summary: This study presents real-world evidence on the effects of nusinersen treatment in patients with early-onset spinal muscular atrophy. The findings demonstrate significant improvements in motor function, particularly in children under the age of 2. However, the improvements in bulbar and respiratory function are not equivalent to those in motor function.
Article
Clinical Neurology
Eugenio Mercuri, Giovanni Baranello, Odile Boespflug-Tanguy, Liesbeth De Waele, Nathalie Goemans, Janbernd Kirschner, Riccardo Masson, Elena S. Mazzone, Astrid Pechmann, Maria Carmela Pera, Carole Vuillerot, Silvia Bader-Weder, Marianne Gerber, Ksenija Gorni, Janine Hoffart, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S. Scalco, Wai Yin Yeung, Laurent Servais
Summary: The study demonstrated a twofold increase in SMN protein after treatment with risdiplam, suggesting its potential effectiveness in treating spinal muscular atrophy. Additionally, the safety profile of risdiplam supported the continuation of the pivotal Part 2 study.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Kevin R. Keene, Johan M. de Nie, Mechteld J. Brink, Irene C. Notting, Jan J. G. M. Verschuuren, Hermien E. Kan, Jan-Willem M. Beenakker, Martijn R. Tannemaat
Summary: This study aimed to explore whether orthoptic measures, including an adapted Hess chart examination, can aid in diagnosing ocular myasthenia gravis (MG). The results showed that orthoptic measurements can be used to diagnose MG by quantifying extraocular muscle (EOM) weakness and fatiguability. Drift during persistent gaze on a Hess chart was found to be specific for MG, and could be used for diagnostic purposes.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Maryam Oskoui, John W. Day, Nicolas Deconinck, Elena S. Mazzone, Andres Nascimento, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Gergely Papp, Ksenija Gorni, Heidemarie Kletzl, Carmen Martin, Tammy McIver, Renata S. Scalco, Hannah Staunton, Wai Yin Yeung, Paulo Fontoura, Eugenio Mercuri, SUNFISH Working Grp
Summary: Risdiplam, an oral SMN2 pre-mRNA splicing modifier, has been approved for the treatment of SMA. The SUNFISH Part 2 study demonstrated the efficacy and safety of risdiplam in type 2 and non-ambulant type 3 SMA. After 12 months of treatment, motor function improvements were maintained or further improved upon at month 24.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Nienke M. van de Velde, Zaida Koeks, Mirko Signorelli, Nisha Verwey, Maurice Overzier, Jaap A. Bakker, Gautam Sajeev, James Signorovitch, Valeria Ricotti, Jan Verschuuren, Kristy Brown, Pietro Spitali, Erik H. Niks
Summary: This study investigated changes in 3 muscle-enriched biomarkers in the serum of Becker muscular dystrophy (BMD) patients and examined their associations with disease severity, progression, and dystrophin levels. The results showed that Cr/Crn and myostatin were closely related to patients' motor performance and may serve as monitoring biomarkers for BMD.
Review
Economics
Erik Landfeldt, Sophia Abner, Astrid Pechmann, Thomas Sejersen, Hugh J. McMillan, Hanns Lochmueller, Janbernd Kirschner
Summary: The objective of this study was to review and synthesize the evidence of caregiver burden in spinal muscular atrophy (SMA). The results showed that caregiving in SMA is associated with impaired health-related quality of life, family function, and mental well-being. However, there is limited evidence on the impact of disease-modifying drugs on caregiver burden. Further research is needed to better understand the clinical implications of informal caregiving in SMA and the effectiveness of new treatments.
Article
Clinical Neurology
Astrid Pechmann, Max Behrens, Katharina Doernbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zoeller, Gunther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C. Walter, Meike Steinbach, Astrid Blaschek, Matthias Baumann, Manuela Baumgartner, Benedikt Becker, Marina Flotats-Bastardas, Johannes Friese, Rene Guenther, Andreas Hahn, Hanna Kuepper, Jessika Johannsen, Christoph Kamm, Jan Christoph Koch, Cornelia Koehler, Heike Koelbel, Kirsten Kolzter, Arpad von Moers, Steffen Naegel, Christoph Neuwirth, Susanne Petri, Annekathrin Roediger, Mareike Schimmel, Bertold Schrank, Gudrun Schreiber, Martin Smitka, Christian Stadler, Elisabeth Steiner, Eva Stogmann, Regina Trollmann, Matthias Tuerk, Markus Weiler, Corinna Stoltenburg, Ekkehard Willichowsky, Daniel Zeller, Andreas Ziegler, Hanns Lochmueller, Janbernd Kirschner
Summary: This study reported data from the SMArtCARE registry of ambulant patients with spinal muscular atrophy (SMA) treated with nusinersen. The results showed a positive effect of nusinersen treatment in most ambulant pediatric and adult SMA patients. Not only did they observe stabilization of disease progression or lack of deterioration, but clinically meaningful improvements in walking distance.
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Article
Geriatrics & Gerontology
Donnie Cameron, Tooba Abbassi-Daloii, Laura G. M. Heezen, Nienke M. van de Velde, Zaida Koeks, Thom T. J. Veeger, Melissa T. Hooijmans, Salma el Abdellaoui, Sjoerd G. van Duinen, Jan J. G. M. Verschuuren, Maaike van Putten, Annemieke Aartsma-Rus, Vered Raz, Pietro Spitali, Erik H. Niks, Hermien E. Kan
Summary: This study used DT-MRI to compare muscle fiber diameter between BMD patients and healthy controls and found that BMD patients had significantly larger muscle fiber diameter. The results of DT-MRI were consistent with histology, suggesting that it can be used as an imaging biomarker for muscular dystrophies without the need for invasive biopsies.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Clinical Neurology
Layne N. Rodden, Kellie McIntyre, Medina Keita, Mckenzie Wells, Courtney Park, Victoria Profeta, Amy Waldman, Christian Rummey, Laura J. Balcer, David R. Lynch
Summary: This study characterized features of vision loss in a large cohort of adults and children with Friedreich ataxia (FRDA). Results showed that most patients, including children, had pathologically thin retinal nerve fiber layers (RNFLs) and low-contrast vision deficits early in the disease course. The data suggest that both hypoplasia and subsequent degeneration of the RNFL may be responsible for the optic nerve dysfunction in FRDA.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Clinical Neurology
Claudia A. A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. S. Scalco, Kathryn R. R. Wagner, Francesco Muntoni
Summary: This study investigated the safety and pharmacodynamics of risdiplam in patients with spinal muscular atrophy (SMA) who had been previously treated. The results showed that the safety and pharmacokinetics of risdiplam in previously treated patients were consistent with treatment-naive patients.
NEUROLOGY AND THERAPY
(2023)
Article
Clinical Neurology
Kevin R. Keene, Irene C. Notting, Jan J. G. M. Verschuuren, N. Voermans, Ronald. O. B. de Keizer, Jan-Willem M. Beenakker, Martijn R. Tannemaat, Hermien E. Kan
Summary: Quantitative MRI was used to study the extra-ocular muscles (EOM) in patients with myasthenia gravis (MG). The study found that chronic MG patients showed small increases in EOM volume and muscle fat fraction (FF), while patients with chronic progressive external ophthalmoplegia (CPEO) showed decreased volume and patients with Graves' ophthalmopathy (GO) showed increased volume. The severity of ophthalmoplegia in MG was not correlated with EOM volume, but was correlated in CPEO and oculopharyngeal muscular dystrophy (OPMD).
JOURNAL OF NEUROMUSCULAR DISEASES
(2023)
Article
Clinical Neurology
David R. Lynch, Angie Goldsberry, Christian Rummey, Jennifer Farmer, Sylvia Boesch, Martin B. Delatycki, Paola Giunti, J. Chad Hoyle, Caterina Mariotti, Katherine D. Mathews, Wolfgang Nachbauer, Susan Perlman, S. H. Subramony, George Wilmot, Theresa Zesiewicz, Lisa Weissfeld, Colin Meyer
Summary: This study compared data from an open-label extension study with FACOMS and found that omaveloxolone provided persistent benefit over 3 years for Friedreich ataxia patients. It demonstrates the importance of natural history studies in clinical trial evaluations.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Neurosciences
David C. Schorling, Rainer Rawer, Imke Kuhlmann, Cornelia Mueller, Astrid Pechmann, Janbernd Kirschner
Summary: The study aimed to establish reference data for the 4 stair climb test (4SC), and for mechanographic analysis of ascent (4SC-Up) and descent (4SC-Dn) in healthy children and adolescents. The results showed that mechanographic analysis of the 4SC appears to be a promising tool for evaluating muscle strength and function of the lower extremities.
JOURNAL OF MUSCULOSKELETAL & NEURONAL INTERACTIONS
(2023)
