ANAVEX2-73 Study in Pediatric Patients With Rett Syndrome

Condition:   Rett Syndrome Interventions:   Drug: ANAVEX2-73 oral liquid;   Drug: Placebo oral liquid Sponsors:   Anavex Life Sciences Corp.;   Anavex Australia Pty Ltd.;   Anavex Germany GmbH Recruiting
Source: - Category: Research Source Type: clinical trials

Related Links:

Publication date: Available online 30 September 2020Source: NeuroscienceAuthor(s): Daniele Vigli, Livia Cosentino, Mattia Pellas, Bianca De Filippis
Source: Neuroscience - Category: Neuroscience Source Type: research
ConclusionsThis study provides the first evidence that long-term treatment of adult female heterozygousMecp2tm1.1Bird mice and adult Rett patients with the antidepressant mirtazapine is well tolerated and that it protects from disease progression and improves motor, sensory, and behavioral symptoms.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
ConclusionsTogether, these findings illustrate novel deficits in skilled learning consistent with clinical manifestation of Rett syndrome and provide a framework for development of therapeutic strategies to improve these complex behaviors.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
CONCLUSIONS: Results identify several gait characteristics observable during overground and treadmill walking. In general, participants behaved similarly during overground and treadmill walking. We conclude that both overground and treadmill walking are appropriate tools to evaluate gait in this population. Implications for rehabilitation Locomotor rehabilitation may increase the quantity of walking performed by the patients, which can alleviate negative effects of the sedentary lifestyle commonly observed in patients with Rett syndrome (RTT). Video analysis of natural walking can be an effective tool to characterize gait ...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
Semin Neurol DOI: 10.1055/s-0040-1713926Investigations of the cellular and molecular mechanisms that mediate the development of the autonomic nervous system have identified critical genes and signaling pathways that, when disrupted, cause disorders of the autonomic nervous system. This review summarizes our current understanding of how the autonomic nervous system emerges from the organized spatial and temporal patterning of precursor cell migration, proliferation, communication, and differentiation, and discusses potential clinical implications for developmental disorders of the autonomic nervous system, including familia...
Source: Seminars in Neurology - Category: Neurology Authors: Tags: Review Article Source Type: research
Abstract Rett syndrome (RTT) is a severe neurodevelopmental disorder (NDD) that is nearly always caused by loss of function mutations in Methyl-CpG-binding Protein 2 (MECP2) and shares many clinical features with other NDD. Genetic restoration of Mecp2 in symptomatic mice lacking MeCP2 expression can reverse symptoms, providing hope that disease modifying therapies can be identified for RTT. Effective and rapid clinical trial completion relies on well-defined clinical outcome measures and robust biomarkers of treatment responses. Studies on other NDD have found evidence of differences in neurophysiological measure...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
CONCLUSION: A small number of rigorously studied rehabilitation interventions have been published. Published studies aim to address a wide variety of functional impairments. Research regarding implementation of therapies for older patients with RTT is lacking and requires further exploration. PMID: 32894256 [PubMed - as supplied by publisher]
Source: Journal of Pediatric Rehabilitation Medicine - Category: Rehabilitation Tags: J Pediatr Rehabil Med Source Type: research
Rett syndrome (RS) patients often present with scoliosis, which requires surgical correction. However, literature is limited and reports major surgical complications including respiratory failure, prolonged intubation, infections, significant blood loss, and prolonged hospital stay. Cerebral palsy (CP) patients undergoing scoliosis surgery may be comparable to RS patients. They are often nonverbal, nonambulatory with frequent respiratory and surgical complications. Most surgeons have comparatively more experience treating CP patients than RS.
Source: The Spine Journal - Category: Orthopaedics Authors: Source Type: research
Publication date: Available online 27 August 2020Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Jatinder Singh, Evamaria Lanzarini, Paramala Santosh
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
We report here that neurons from R106W MeCP2 RTT human iPSCs as well as human embryonic stem cells after MeCP2 knockdown exhibit consistent and long-lasting impairment in maturation as indicated by impaired action potentials and passive membrane properties as well as reduced soma size and spine density. Moreover, RTT-inherent defects in neuronal maturation could be pan-neuronal and occurred in neurons with both dorsal and ventral forebrain features. Knockdown of MeCP2 led to more severe neuronal deficits as compared to RTT iPSC-derived neurons, which appeared to retain partial function. Strikingly, consistent deficits in n...
Source: Protein and Cell - Category: Cytology Tags: Protein Cell Source Type: research
More News: Pediatrics | Research | Rett Syndrome | Study