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Innovative Therapies in Neuromuscular Diseases
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Innovative Therapies in Neuromuscular Diseases

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Clinical Neurology".

Deadline for manuscript submissions: closed (31 December 2021) | Viewed by 37158

Special Issue Editors

Prof. Dr. Alessandra Ferlini

E-Mail Website
Guest Editor
Unit of Medical Genetics, Department of Medical Science, University of Ferrara, Ferrara, Italy
Interests: neuromuscular disorders; genetics; muscular dystrophies
Special Issues, Collections and Topics in MDPI journals
Dr. Maria Sofia Falzarano

E-Mail Website
Guest Editor
Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy
Interests: neuroscience

Special Issue Information

Dear Colleagues, 

This Special Issue, "Innovative Therapies in Neuromuscular Diseases", will focus on recent advances that have recently been made in developing novel approaches to treat neuromuscular disorders (NMDs). 

NMDs comprise a large and heterogeneous group of diseases affecting skeletal muscles, motor nerves, or neuromuscular junctions. No curative treatments have yet been found for any NMDs, but progress in translational research has now opened new possibilities for therapeutic interventions which are resulting in the development of new drugs that are currently under investigation, and novel clinical trials (i.e., PTC and eteplirsen for Duchenne muscular dystrophy; nusinersen for spinal muscular atrophy). The majority of these new therapeutic options are based on the concept of personalized medicine, implying that the genetic diagnosis is compulsory for NMD patients in order to make them eligible for drug or clinical trial enrollment. 

We intend to invite authors with expertise in the field of NMDs to contribute review papers which focus on novel therapies that are currently ongoing for NMDs.

Dr. Alessandra Ferlini
Dr. Maria Sofia Falzarano
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • gene therapy
  • antisense oligonucleotide based therapy
  • gene editing
  • muscular dystrophies
  • spinal muscular atrophy
  • hereditary myopathies
  • hereditary peripheral neuropathies

Published Papers (6 papers)

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Research

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16 pages, 1095 KiB  
Article
Influence of the Passive Stabilization of the Trunk and Upper Limb on Selected Parameters of the Hand Motor Coordination, Grip Strength and Muscle Tension, in Post-Stroke Patients
by Anna Olczak and Aleksandra Truszczyńska-Baszak
J. Clin. Med. 2021, 10(11), 2402; https://doi.org/10.3390/jcm10112402 - 29 May 2021
Cited by 9 | Viewed by 2936
Abstract
Objective: Assessment of the influence of a stable trunk and the affected upper limb (dominant or non-dominant) on the parameters of the wrist and hand motor coordination, grip strength and muscle tension in patients in the subacute post-stroke stage compared to healthy subjects. [...] Read more.
Objective: Assessment of the influence of a stable trunk and the affected upper limb (dominant or non-dominant) on the parameters of the wrist and hand motor coordination, grip strength and muscle tension in patients in the subacute post-stroke stage compared to healthy subjects. Design: An observational study. Setting: Stroke Rehabilitation Department. Subjects: Thirty-four subjects after ischemic cerebral stroke and control group-32 subjects without neurological deficits, age and body mass/ height matched were included. Main measures: The tone of the multifidus, transverse abdominal and supraspinatus muscles were assessed by Luna EMG device. A HandTutor device were used to measure motor coordination parameters (e.g., range of movement, frequency of movement), and a manual dynamometer for measuring the strength of a hand grip. Subjects were examined in two positions: sitting without back support (non-stabilized) and lying with stabilization of the trunk and the upper limb. Results: Passive stabilization of the trunk and the upper extremity caused a significant improvement in motor coordination of the fingers (p ˂ 0.001) and the wrist (p < 0.001) in patients after stroke. Improved motor coordination of the upper extremity was associated with an increased tone of the supraspinatus muscle. Conclusions: Passive stabilization of the trunk and the upper limb improved the hand and wrist coordination in patients following a stroke. Placing patients in a supine position with the stability of the affected upper limb during rehabilitation exercises may help them to access latent movement patterns lost due to neurological impairment after a stroke. Full article
(This article belongs to the Special Issue Innovative Therapies in Neuromuscular Diseases)
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16 pages, 1188 KiB  
Article
Longitudinal Evaluation of Working Memory in Duchenne Muscular Dystrophy
by Mathula Thangarajh, Gary L. Elfring and Panayiota Trifillis
J. Clin. Med. 2020, 9(9), 2940; https://doi.org/10.3390/jcm9092940 - 11 Sep 2020
Cited by 7 | Viewed by 1944
Abstract
Objective: The developmental maturation of forward and backward digit spans—indices of working memory—in boys with nonsense (nm) Duchenne muscular dystrophy (DMD) (nmDMD) was assessed using prospective, longitudinal data. Methods: Fifty-five boys of the 57 subjects with genetically confirmed nmDMD—who were from the placebo [...] Read more.
Objective: The developmental maturation of forward and backward digit spans—indices of working memory—in boys with nonsense (nm) Duchenne muscular dystrophy (DMD) (nmDMD) was assessed using prospective, longitudinal data. Methods: Fifty-five boys of the 57 subjects with genetically confirmed nmDMD—who were from the placebo arm of a 48-week-long phase 2b clinical trial—were evaluated. Forward and backward digit spans were obtained every 12 weeks for a total of five assessments in all study subjects. Changes in forward and backward digit spans were evaluated based on age, corticosteroid treatment, and DMD mutation location. Results: Boys with nmDMD had lower mean scores on normalized forward digit span. Normalized forward digit spans were comparable between subjects stratified by age and between corticosteroid-naïve and corticosteroid-treated subjects. When stratified by DMD mutation location, normalized forward digit spans were lower in nmDMD subjects with mutations downstream of DMD exon 30, exon 45, and exon 63, both at baseline evaluation and at follow-up evaluation at 48 weeks. On average, normalized backward digit span scores were stable over 48 weeks in these subjects. Developmental growth modeling showed that subjects with nmDMD mutations upstream of DMD exon 30, upstream of DMD exon 45, and upstream of DMD exon 63 appeared to make better gains in working memory than subjects with mutations downstream of DMD exon 30, downstream of DMD exon 45, and downstream of DMD exon 63. Conclusion: Performance in working memory shows deficits in nmDMD and differed based on nmDMD location. Maturation in cognition was seen over a 48-week period. The developmental trajectory of working memory in this cohort was influenced by DMD mutation location. Full article
(This article belongs to the Special Issue Innovative Therapies in Neuromuscular Diseases)
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Review

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30 pages, 1549 KiB  
Review
Preclinical Advances of Therapies for Laminopathies
by Louise Benarroch, Enzo Cohen, Antonio Atalaia, Rabah Ben Yaou, Gisèle Bonne and Anne T Bertrand
J. Clin. Med. 2021, 10(21), 4834; https://doi.org/10.3390/jcm10214834 - 21 Oct 2021
Cited by 5 | Viewed by 3057
Abstract
Laminopathies are a group of rare disorders due to mutation in LMNA gene. Depending on the mutation, they may affect striated muscles, adipose tissues, nerves or are multisystemic with various accelerated ageing syndromes. Although the diverse pathomechanisms responsible for laminopathies are not fully [...] Read more.
Laminopathies are a group of rare disorders due to mutation in LMNA gene. Depending on the mutation, they may affect striated muscles, adipose tissues, nerves or are multisystemic with various accelerated ageing syndromes. Although the diverse pathomechanisms responsible for laminopathies are not fully understood, several therapeutic approaches have been evaluated in patient cells or animal models, ranging from gene therapies to cell and drug therapies. This review is focused on these therapies with a strong focus on striated muscle laminopathies and premature ageing syndromes. Full article
(This article belongs to the Special Issue Innovative Therapies in Neuromuscular Diseases)
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21 pages, 738 KiB  
Review
Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy
by Fernanda Fortunato, Rachele Rossi, Maria Sofia Falzarano and Alessandra Ferlini
J. Clin. Med. 2021, 10(4), 820; https://doi.org/10.3390/jcm10040820 - 17 Feb 2021
Cited by 43 | Viewed by 5314
Abstract
Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy affecting ~1:5000 live male births. Following the identification of pathogenic variations in the dystrophin gene in 1986, the underlining genotype/phenotype correlations emerged and the role of the dystrophin protein was elucidated in [...] Read more.
Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy affecting ~1:5000 live male births. Following the identification of pathogenic variations in the dystrophin gene in 1986, the underlining genotype/phenotype correlations emerged and the role of the dystrophin protein was elucidated in skeletal, smooth, and cardiac muscles, as well as in the brain. When the dystrophin protein is absent or quantitatively or qualitatively modified, the muscle cannot sustain the stress of repeated contractions. Dystrophin acts as a bridging and anchoring protein between the sarcomere and the sarcolemma, and its absence or reduction leads to severe muscle damage that eventually cannot be repaired, with its ultimate substitution by connective tissue and fat. The advances of an understanding of the molecular pathways affected in DMD have led to the development of many therapeutic strategies that tackle different aspects of disease etiopathogenesis, which have recently led to the first successful approved orphan drugs for this condition. The therapeutic advances in this field have progressed exponentially, with second-generation drugs now entering in clinical trials as gene therapy, potentially providing a further effective approach to the condition. Full article
(This article belongs to the Special Issue Innovative Therapies in Neuromuscular Diseases)
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20 pages, 613 KiB  
Review
Therapeutic Strategies Targeting DUX4 in FSHD
by Laura Le Gall, Eva Sidlauskaite, Virginie Mariot and Julie Dumonceaux
J. Clin. Med. 2020, 9(9), 2886; https://doi.org/10.3390/jcm9092886 - 07 Sep 2020
Cited by 16 | Viewed by 4659
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. Patients initially exhibit asymmetric facial and humeral muscle damage, followed by lower body muscle involvement. FSHD is associated with a derepression of DUX4 gene encoded by the [...] Read more.
Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle dystrophy typically affecting patients within their second decade. Patients initially exhibit asymmetric facial and humeral muscle damage, followed by lower body muscle involvement. FSHD is associated with a derepression of DUX4 gene encoded by the D4Z4 macrosatellite located on the subtelomeric part of chromosome 4. DUX4 is a highly regulated transcription factor and its expression in skeletal muscle contributes to multiple cellular toxicities and pathologies ultimately leading to muscle weakness and atrophy. Since the discovery of the FSHD candidate gene DUX4, many cell and animal models have been designed for therapeutic approaches and clinical trials. Today there is no treatment available for FSHD patients and therapeutic strategies targeting DUX4 toxicity in skeletal muscle are being actively investigated. In this review, we will discuss different research areas that are currently being considered to alter DUX4 expression and toxicity in muscle tissue and the cell and animal models designed to date. Full article
(This article belongs to the Special Issue Innovative Therapies in Neuromuscular Diseases)
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16 pages, 598 KiB  
Review
New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges
by Sonia Messina and Maria Sframeli
J. Clin. Med. 2020, 9(7), 2222; https://doi.org/10.3390/jcm9072222 - 13 Jul 2020
Cited by 97 | Viewed by 18212
Abstract
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability. The disorder is caused by mutations in the survival motor neuron 1 (SMN1) gene and a [...] Read more.
Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability. The disorder is caused by mutations in the survival motor neuron 1 (SMN1) gene and a consequent decrease in the SMN protein leading to lower motor neuron degeneration. Recently, Food and Drug Administration (FDA) and European Medical Agency (EMA) approved the antisense oligonucleotide nusinersen, the first SMA disease-modifying treatment and gene replacement therapy by onasemnogene abeparvovec. Encouraging results from phase II and III clinical trials have raised hope that other therapeutic options will enter soon in clinical practice. However, the availability of effective approaches has raised up ethical, medical and financial issues that are routinely faced by the SMA community. This review covers the available data and the new challenges of SMA therapeutic strategies. Full article
(This article belongs to the Special Issue Innovative Therapies in Neuromuscular Diseases)
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