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REVIEW
Carmen Adella Sirbu, Raluca Ivan, Francois Jerome Authier, Florentina Ionita-Radu, Dragos Catalin Jianu, Octavian Vasiliu, Ciprian Constantin, Sorin Tuță
BACKGROUND AND AIMS: Orphan diseases, or rare diseases, are defined in Europe as diseases that affect less than 5 out of every 10,000 citizens. Given the small number of cases and the lack of profit potential, pharmaceutical companies have not invested much in the development of possible treatments. However, over the last few years, new therapies for rare diseases have emerged, giving physicians a chance to offer personalized treatment. With this paper, we aim to present some of the orphan neurological diseases for which new drugs have been developed lately...
February 26, 2023: Journal of Personalized Medicine
#22
JOURNAL ARTICLE
Amel Saoudi, Claire Fergus, Talia Gileadi, Federica Montanaro, Jennifer E Morgan, Vincent P Kelly, Thomas Tensorer, Luis Garcia, Cyrille Vaillend, Francesco Muntoni, Aurélie Goyenvalle
Nucleic acid-based therapies have demonstrated great potential for the treatment of monogenetic diseases, including neurologic disorders. To date, regulatory approval has been received for a dozen antisense oligonucleotides (ASOs); however, these chemistries cannot readily cross the blood-brain barrier when administered systemically. Therefore, an investigation of their potential effects within the central nervous system (CNS) requires local delivery. Here, we studied the brain distribution and exon-skipping efficacy of two ASO chemistries, PMO and tcDNA, when delivered to the cerebrospinal fluid (CSF) of mice carrying a deletion in exon 52 of the dystrophin gene, a model of Duchenne muscular dystrophy (DMD)...
March 15, 2023: Cells
#23
REVIEW
Francesca Torri, Piervito Lopriore, Vincenzo Montano, Gabriele Siciliano, Michelangelo Mancuso, Giulia Ricci
Fatigue is a major determinant of quality of life and motor function in patients affected by several neuromuscular diseases, each of them characterized by a peculiar physiopathology and the involvement of numerous interplaying factors. This narrative review aims to provide an overview on the pathophysiology of fatigue at a biochemical and molecular level with regard to muscular dystrophies, metabolic myopathies, and primary mitochondrial disorders with a focus on mitochondrial myopathies and spinal muscular atrophy, which, although fulfilling the definition of rare diseases, as a group represent a representative ensemble of neuromuscular disorders that the neurologist may encounter in clinical practice...
March 5, 2023: International Journal of Molecular Sciences
#24
JOURNAL ARTICLE
Mieke Kooi-van Es, Corrie E Erasmus, Nicoline B M Voet, Lenie van den Engel-Hoek, Philip J van der Wees
Purpose: Speech-language pathology (SLP) is considered an essential intervention due to the high prevalence of dysphagia and dysarthria in paediatric neuromuscular disorders (pNMD). Evidence-based guidelines for SLP in pNMD are missing and children could be deprived the best of care. This study aimed to achieve consensus and present best practice recommendations on SLP intervention in pNMD. Method: A modified Delphi technique was used with a panel of experienced Dutch speech-language pathologists. In two online survey rounds and a face-to-face consensus meeting, the SLP experts proposed intervention items for cases of four types of pNMD (congenital myopathy, Duchenne muscular dystrophy, myotonic dystrophy type 1, and spinal muscular atrophy type 2), covering symptoms of dysphagia, dysarthria, drooling, and oral hygiene problems...
March 10, 2023: International Journal of Speech-language Pathology
#25
REVIEW
Alexander Ilan Gipsman, Nicole Christine Lapinel, Oscar Henry Mayer
Airway clearance is a critical component of both maintenance of respiratory health and management of acute respiratory illnesses. The process of effective airway clearance begins with the recognition of secretions in the airway and culminates in expectoration or swallowing. There are multiple points on this continuum at which neuromuscular disease causes impaired airway clearance. This can result in an otherwise mild upper respiratory illness progressing unabated from an easily managed condition to a severe, life-threatening lower respiratory illness requiring intensive therapy for patient recovery...
February 23, 2023: Paediatric Respiratory Reviews
#26
JOURNAL ARTICLE
Martin Egli, Muthiah Manoharan
Eighteen nucleic acid therapeutics have been approved for treatment of various diseases in the last 25 years. Their modes of action include antisense oligonucleotides (ASOs), splice-switching oligonucleotides (SSOs), RNA interference (RNAi) and an RNA aptamer against a protein. Among the diseases targeted by this new class of drugs are homozygous familial hypercholesterolemia, spinal muscular atrophy, Duchenne muscular dystrophy, hereditary transthyretin-mediated amyloidosis, familial chylomicronemia syndrome, acute hepatic porphyria, and primary hyperoxaluria...
March 7, 2023: Nucleic Acids Research
#27
REVIEW
Debora Pires Ferreira, Alisha M Gruntman, Terence R Flotte
INTRODUCTION: Altering the human genetic code has been explored since the early 1990s as a definitive answer for the treatment of monogenic and acquired diseases which do not respond to conventional therapies. In Alpha-1 antitrypsin deficiency (AATD) the proper synthesis and secretion of alpha-1 antitrypsin (AAT) protein is impaired, leading to its toxic hepatic accumulation along with its pulmonary insufficiency, which is associated with parenchymal proteolytic destruction. Because AATD is caused by mutations in a single gene whose correction alone would normalize the mutant phenotype, it has become a popular target for both augmentation gene therapy and gene editing...
March 2023: Expert Opinion on Biological Therapy
#28
JOURNAL ARTICLE
Nalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, Darshana Sirisena, Harsha Gunasekara, Athula Dissanayake, Sunethra Senanayake, Ajantha Keshavaraj, Yetrib Hathout, Harry W M Steinbusch, Chandra Mohan, Ashwin Dalal, Eric Hoffman, K Ranil D de Silva
BACKGROUND: In this article, the authors discuss how they utilized the genetic mutation data in Sri Lankan Duchenne muscular dystrophy (DMD), Spinal muscular atrophy (SMA), Spinocerebellar ataxia (SCA) and Huntington's disease (HD) patients and compare the available literature from South Asian countries to identifying potential candidates for available gene therapy for DMD, SMA, SCA and HD patients. METHODS: Rare disease patients (n = 623) with the characteristic clinical findings suspected of HD, SCA, SMA and Muscular Dystrophy were genetically confirmed using Multiplex Ligation Dependent Probe Amplification (MLPA), and single plex PCR...
June 2023: IBRO neuroscience reports
#29
JOURNAL ARTICLE
Brit Hov, Tiina Andersen, Michel Toussaint, Ingvild B Mikalsen, Maria Vollsaeter, Heidi Markussen, Solfrid Indrekvam, Vegard Hovland
AIM: To (1) compare the perceived benefit of long-term mechanical insufflation-exsufflation (MI-E) of children with neuromuscular disorders (NMDs) and central nervous system (CNS) disorders, including health care needs and treatment routines and (2) describe the children's health-related quality of life (HRQoL). METHOD: This cross-sectional study used a questionnaire and memory card data to assess the perceived benefit of MI-E via the Visual Analogue Scale (VAS; 10 maximum), willingness to pause treatment, level of health care needs before and after MI-E initiation, and the children's treatment routines...
February 14, 2023: Developmental Medicine and Child Neurology
#30
REVIEW
Lin Kang, Shilin Jin, Jiayi Wang, Zhongyue Lv, Chengqi Xin, Chengcheng Tan, Mengke Zhao, Liang Wang, Jing Liu
In recent years, adeno-associated virus (AAV) has become the most important vector for central nervous system (CNS) gene therapy. AAV has already shown promising results in the clinic, for several CNS diseases that cannot be treated with drugs, including neurodegenerative diseases, neuromuscular diseases, and lysosomal storage disorders. Currently, three of the four commercially available AAV-based drugs focus on neurological disorders, including Upstaza for aromatic l-amino acid decarboxylase deficiency, Luxturna for hereditary retinal dystrophy, and Zolgensma for spinal muscular atrophy...
February 1, 2023: Journal of Controlled Release
#31
REVIEW
Cintia Gomez Limia, Megan Baird, Maura Schwartz, Smita Saxena, Kathrin Meyer, Nicolas Wein
Neurodegenerative disorders (NDDs), such as Alzheimer's disease (AD) and Parkinson's Disease (PD), are a group of heterogeneous diseases that mainly affect central nervous system (CNS) functions. A subset of NDDs exhibit CNS dysfunction and muscle degeneration, as observed in Gangliosidosis 1 (GM1) and late stages of PD. Neuromuscular disorders (NMDs) are a group of diseases in which patients show primary progressive muscle weaknesses, including Duchenne Muscular Dystrophy (DMD), Pompe disease, and Spinal Muscular Atrophy (SMA)...
November 30, 2022: Journal of Personalized Medicine
#32
JOURNAL ARTICLE
Sara Aguti, Fady Guirguis, Carsten Bönnemann, Francesco Muntoni, Véronique Bolduc, Haiyan Zhou
Single nucleotide variants that alter splice sites or splicing regulatory elements can lead to the skipping of exons, retention of introns, or insertion of pseudo-exons (PE) into the mature mRNA transcripts. When translated, these changes can disrupt the function of the synthesized protein. Splice-switching antisense oligonucleotides (ASOs) are synthetic, modified nucleic acids that can correct these aberrant splicing events. They are currently in active clinical development for a number of conditions and have been approved by regulatory agencies for the treatment of neuromuscular disorders such as Duchenne muscular dystrophy and spinal muscular atrophy...
2023: Methods in Molecular Biology
#33
JOURNAL ARTICLE
Fatima Al Amrani, Reshma Amin, Jackie Chiang, Lena Xiao, Jennifer Boyd, Eugenia Law, Elisa Nigro, Lauren Weinstock, Ana Stosic, Hernan D Gonorazky
Background and Objectives: The introduction of spinal muscular dystrophy (SMA)-modifying therapies, such as antisense oligonucleotide therapy, has changed the natural history of SMA. Most reports on treatment outcomes have focused on motor scores and respiratory function. The objective of this study is to document the development and progression of scoliosis in patients with SMA1 treated with nusinersen. Methods: A descriptive single-center study was conducted in patients with SMA1 who were treated with nusinersen before 6 months of age...
August 2022: Neurology. Clinical Practice
#34
JOURNAL ARTICLE
Cempaka Thursina Srie Setyaningrum, Indra Sari Kusuma Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Ahmad Hamim Sadewa, Giga Hasabi Alkarani, Nur Imma Fatimah Harahap
BACKGROUND: Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first manifest in adulthood. Although spinal muscular atrophy has come to the era of newborn screening and promising treatments, genetically confirmed spinal muscular atrophy patients are still rare in third world countries, including Indonesia...
November 15, 2022: Journal of Medical Case Reports
#35
REVIEW
Erik Landfeldt
Highly efficacious, potentially curative gene therapies holds immense clinical promise, but also present complex challenges. At the time of regulatory approval and health technology assessment (HTA), evidence of efficacy and safety of gene therapies is often uncertain. In addition, research, development, and manufacturing costs, small pools of eligible patients, and the fact that many gene therapies are administered only once means that they frequently are associated with very high "one-off" price points. Although only a limited number of products have been brought to market globally, hundreds of clinical trials of gene therapies, including several of monogenetic neuromuscular diseases, are currently ongoing...
2022: Journal of Neuromuscular Diseases
#36
JOURNAL ARTICLE
Robert Gutierrez, Allison McCrady, Chelsea Masterson, Sarah Tolman, Mehdi Boukhechba, Laura Barnes, Silvia Blemker, Rebecca Scharf
BACKGROUND: Neuromuscular diseases, such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD), may result in the loss of motor movements, respiratory failure, and early mortality in young children and in adulthood. With novel treatments now available, new evaluation methods are needed to assess progress that is not currently captured in existing motor scale tests. OBJECTIVE: With our feasibility study, our interdisciplinary team of investigators aims to develop a novel, multimodal paradigm of measuring motor function in children with neuromuscular diseases that will revolutionize the way that clinical trial end points are measured, thereby accelerating the pipeline of new treatments for childhood neuromuscular diseases...
October 27, 2022: JMIR Research Protocols
#37
JOURNAL ARTICLE
Faouzi Zarrouki, Sébastien Goutal, Ophélie Vacca, Luis Garcia, Nicolas Tournier, Aurélie Goyenvalle, Cyrille Vaillend
Duchenne muscular dystrophy (DMD) is a neurodevelopmental disorder primarily caused by the loss of the full-length Dp427 dystrophin in both muscle and brain. The basis of the central comorbidities in DMD is unclear. Brain dystrophin plays a role in the clustering of central gamma-aminobutyric acid A receptors (GABAA Rs), and its loss in the mdx mouse alters the clustering of some synaptic subunits in central inhibitory synapses. However, the diversity of GABAergic alterations in this model is still fragmentary...
October 20, 2022: International Journal of Molecular Sciences
#38
JOURNAL ARTICLE
Laura Allaer, Sonia Khirani, Lucie Griffon, Bruno Massenavette, Priscille Bierme, Guillaume Aubertin, Nathalie Stremler, Melisande Baravalle-Einaudi, Julie Mazenq, Iulia Ioan, Cyril Schweitzer, Alexandra Binoche, Marie Emilie Lampin, Clemence Mordacq, Jean Bergounioux, Blaise Mbieleu, Robert Rubinsztajn, Elodie Sigur, Geraldine Labouret, Aline Genevois, Arnaud Becourt, Eglantine Hullo, Stéphane Debelleix, François Galodé, Stéphanei Bui, Johan Moreau, Marie Catherine Renoux, Stefan Matecki, Marc Lubrano Lavadera, Rachel Heyman, Michael Pomedio, Laurence Le Clainche, Plamen Bokov, Benjamin Dudoignon, Alexandra Masson, Pauline Hangard, Celine Menetrey, Mikael Jokic, Elsa Gachelin, Caroline Perisson, Anne Pervillé, Agnes Fina, Lisa Giovannini-Chami, Emmanuelle Fleurence, Audrey Barzic, Pierrick Cros, Audrey Breining, Morgane Ollivier, Guillaume Labbé, Laurianne Coutier, Jessica Taytard, Brigitte Fauroux
The aim of the study was to describe the characteristics of children with neuromuscular diseases treated with long term noninvasive ventilation or continuous positive airway pressure in France. On June 1st 2019, 387 patients (63% boys, mean age 11.2 ± 5.5 years) were treated with long term noninvasive ventilation/continuous positive airway pressure. Thirty three percent of patients had spinal muscular atrophy, 30% congenital myopathy/dystrophy, 20% Duchenne muscular dystrophy, 7% Steinert myotonic dystrophy, and 9% other neuromuscular diseases...
September 24, 2022: Neuromuscular Disorders: NMD
#39
Ziyang Tang, Zongshan Hu, Xiaodong Qin, Zezhang Zhu, Zhen Liu
BACKGROUND: Emery-Dreifuss muscular dystrophy (EDMD) is an uncommon, gradually progressive X-linked myopathy, and it could result in rigid spinal deformity. Only a few case reports have described surgical treatment of cervical hyperlordosis and thoracolumbar kyphoscoliosis secondary to EDMD. We report a rare case of EDMD to present the surgical strategies of severe cervical hyperlordosis and thoracolumbar kyphoscoliosis. CASE PRESENTATION: The patient was a 22-year-old man with EDMD who had severe cervical hyperlordosis and thoracolumbar kyphoscoliosis...
October 17, 2022: Orthopaedic Surgery
#40
REVIEW
Michele Iavarone, Emanuele Monda, Olga Vritz, Dimpna Calila Albert, Marta Rubino, Federica Verrillo, Martina Caiazza, Michele Lioncino, Federica Amodio, Natale Guarnaccia, Felice Gragnano, Raffaella Lombardi, Giovanni Esposito, Eduardo Bossone, Paolo Calabrò, Maria Angela Losi, Giuseppe Limongelli
Several treatments have demonstrated safety and effectiveness in the treatment of patients with hypertrophic cardiomyopathy; however, no drug has been shown to modify the natural history of the disease or to decrease maximal wall thickness. Improvement in our knowledge of the physiopathology of the disease has permitted the development of new therapeutical approaches, including sarcomere modulators and gene therapy. A sarcomere modulator - mavacamten - has been shown to improve exercise capacity, left ventricular outflow tract obstruction, New York Heart Association functional class and health status in a phase 3 trial...
September 2, 2022: Archives of Cardiovascular Diseases
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