Review
Neurosciences
Ikhlass H. Salem, Marie Beaudin, Christopher J. Klein, Nicolas Dupre
Summary: Autosomal recessive cerebellar ataxias (ARCAs) are a group of neurodegenerative diseases characterized by cerebellar ataxia, dysmetria, dysarthria, and nystagmus that are inherited in an autosomal recessive fashion. The diagnosis of ARCAs is challenging due to low prevalence and overlapping clinical features. Treatment is mainly symptomatic, but new therapeutic approaches are being explored. Improved motor rehabilitation protocols and noninvasive cerebellar stimulation can delay disease progression, and gene and molecular targeting therapies show promise for repairing defective genes. This article provides an overview of current management and treatment strategies for ARCAs, with an emphasis on promising perspectives.
CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS
(2023)
Review
Clinical Neurology
Aristide Merola, Noelle Kobayashi, Alberto Romagnolo, Brenton A. Wright, Carlo Alberto Artusi, Gabriele Imbalzano, Irene Litvan, Amber D. Van Laar, Krystof Bankiewicz
Summary: This study provides an overview of published and ongoing movement disorders clinical trials using gene therapy approaches. Different gene therapy strategies have shown promising potential for treating Parkinson's disease, Huntington's disease, and AADC deficiency. Ongoing trials aim to further explore the efficacy and applications of gene therapy in movement disorders.
FRONTIERS IN NEUROLOGY
(2021)
Review
Clinical Neurology
Ivy Cheng, Shaheen Hamdy
Summary: Dysphagia is a common and devastating complication following brain damage, with treatments shifting towards rehabilitative strategies that facilitate neuroplasticity. However, there remains substantial variability in responsiveness towards neurostimulation treatments, highlighting the need for more effective strategies to be developed. Additionally, the role of metaplasticity in regulating plasticity changes is discussed, with a proposed hypothesis on its application in dysphagia rehabilitation to enhance treatment outcomes.
NEUROLOGICAL SCIENCES
(2022)
Review
Clinical Neurology
Shaila D. Ghanekar, Sheng-Han Kuo, Joseph S. Staffetti, Theresa A. Zesiewicz
Summary: Spinocerebellar ataxias (SCA) are a group of rare neurodegenerative diseases with currently no approved treatments. Research efforts have expanded the possibilities for potential treatments, including pharmacological interventions, gene therapy, neurostimulation, and molecular targeting.
EXPERT REVIEW OF NEUROTHERAPEUTICS
(2022)
Review
Biochemistry & Molecular Biology
Wei Chiu, Ting-Yi Lin, Yun-Chia Chang, Henkie Isahwan-Ahmad Mulyadi Lai, Shen-Che Lin, Chun Ma, Aliaksandr A. Yarmishyn, Shiuan-Chen Lin, Kao-Jung Chang, Yu-Bai Chou, Chih-Chien Hsu, Tai-Chi Lin, Shih-Jen Chen, Yueh Chien, Yi-Ping Yang, De-Kuang Hwang
Summary: Inherited retinal dystrophies (IRDs) are rare eye diseases caused by gene mutations, and gene therapy has shown promising prospects in treating these diseases. Gene therapy for patients with confirmed biallelic RPE65 mutation-associated Leber Congenital Amaurosis (LCA) has been approved by the FDA, marking a significant advancement in the field of genetic treatments for eye diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Tiffany Yee, Katherine J. Wert
Summary: Inherited retinal diseases (IRDs) are a group of diseases that cause vision loss and currently have no effective treatment. However, the development of gene editing technologies, such as CRISPR-Cas9, has provided new hope for treating these diseases and preserving visual function.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Gastroenterology & Hepatology
Elliot B. Tapper, Marina Serper, David S. Goldberg
Summary: Patients with chronic liver disease can benefit from pragmatic trial designs, which aim to provide evidence for the adoption of interventions in real-world clinical practice. The efficiency of identifying, recruiting, and following patients, the resemblance of interventions and design to usual clinical care, and the importance of outcomes to patients are key factors in determining the pragmatism of a trial. This review focuses on the promise, trade-offs, and purpose of pragmatic trials in hepatology.
Article
Neurosciences
Rossitza Draganova, Frank Konietschke, Katharina M. Steiner, Naveen Elangovan, Meltem Guemues, Sophia M. Goericke, Thomas M. Ernst, Andreas Deistung, Thilo van Eimeren, Juergen Konczak, Dagmar Timmann
Summary: The study found that cerebellar patients can improve motor performance through practice, but the impact of different types of feedback on learning remains unclear. After training, differences in gray matter volume changes were observed between the control group and cerebellar patients, indicating that compensatory remodeling manifests differently in different brain regions.
HUMAN BRAIN MAPPING
(2022)
Article
Clinical Neurology
Morena M. Zugliani, Marcos Fidry, Ricardo E. Steffen, Katherine Lan, Elisa Brietzke, Roumen Milev, Antonio E. Nardi, Rafael C. Freire
Summary: The study reviewed non-TMS neurostimulation clinical trials for MDD between 2010 and 2020, finding that transcranial direct current stimulation (tDCS) showed efficacy in treatment. Additionally, open trials indicated that other non-TMS neurostimulation may be effective for treatment-resistant depression, although their effectiveness remains unclear.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2021)
Review
Medicine, General & Internal
Miriam Ortiz, Anna Katharina Koch, Holger Cramer, Klaus Linde, Gabriele Rotter, Michael Teut, Benno Brinkhaus, Heidemarie Haller
Summary: This study aimed to systematically review the clinical effects of hydrotherapy according to Kneipp. The results suggested that hydrotherapy showed positive effects in some conditions and outcomes, but the high risk of bias and heterogeneity of the included studies made it difficult to ascertain the treatment effects. Higher-quality studies on Kneipp hydrotherapy are urgently needed.
Article
Clinical Neurology
Malavika A. Nair, Zhiyv Niu, Nicholas N. Madigan, Alexander Y. Shin, Jeffrey S. Brault, Nathan P. Staff, Christopher J. Klein
Summary: Current CMT trials are exploring procedural and molecular therapeutic options with significant involvement of the pharmaceutical industry globally. Emerging drug therapies targeting molecular pathogenesis are being advanced in human clinical trials; however, the majority remain in animal investigations.
FRONTIERS IN NEUROLOGY
(2023)
Review
Immunology
Weiran Shen, Shengjiang Liu, Li Ou
Summary: A meta-analysis of 255 clinical trials on rAAV gene therapy reveals challenges in immunogenicity, toxicity, and features, calling for standardized monitoring methods and novel strategies to overcome immune responses.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Ophthalmology
Michalis Georgiou, Kaoru Fujinami, Michel Michaelides
Summary: Inherited retinal diseases are a group of disorders characterized by photoreceptor degeneration or dysfunction, leading to severe vision loss. The advancements in genetics, retinal imaging, and molecular biology have paved the way for the development of treatments such as gene therapy and ongoing clinical trials targeting various retinal dystrophies. The current research aims to explore novel therapies for these diseases and improve patient outcomes.
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Shun-Yun Cheng, Claudio Punzo
Summary: Gene therapy successfully restored vision in a dog with a childhood blindness disease, leading to FDA approval and further development in ocular gene therapy. Clinical trials have been initiated in humans, with the potential for approval of new viral gene therapies in the next decade.
HUMAN GENE THERAPY
(2022)
Article
Ophthalmology
Giuseppe Casalino, Kamron N. Khan, Monica Armengol, Genevieve Wright, Nikolas Pontikos, Michalis Georgiou, Andrew R. Webster, Anthony G. Robson, Parampal S. Grewal, Michel Michaelides
Summary: This study investigated the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB). Results showed significant phenotypic heterogeneity in patients with ARB, with most patients having compound heterozygous variants and showing progressive loss of vision over time. Additionally, central retinal thickness decreased and some patients exhibited dysfunction in the rod and cone system.