Neuren to conduct first phase 3 clinical trial for Rett Syndrome
(Rettsyndrome.org) Rettsyndrome.org is pleased to share that Neuren Pharmaceuticals, today, after meeting with the FDA, will conduct a Phase 3 clinical trial for trofinetide, a compound that shows great promise in the treatment of Rett syndrome, in children and adults. This critical Phase 3 trial will be the final clinical step before FDA approval to become a prescribable drug.
This study presents the spectrum of MECP2 mutations in 50 Egyptian RTT females with identified gene mutation. Molecular analysis was carried out by direct sequencing of the gene coding region, followed by multiplex ligation-dependent probe amplification (MLPA) for patients without detected pathogenic variation. In total, 23 different disease-causing mutations, including 5 novel frameshift mutations, have been reported. In the study cohort, T158 M is the most common mutation (18%), followed by R270X (14%). Large rearrangements account for 10% of cases intensifying the emergency of gene quantitative analysis. This study pr...
This article suggests that systems biology, emphasizing the epigenetic component of systems biology, could help identify clinically useful biomarkers in neuropsychiatric disorders like SZ, BD, and MDD.
Abstract Nutritional supplements are traditionally employed for overall health and for managing some health conditions, although controversies are found concerning the role of antioxidants-mediated benefits in vivo. Consistently with its critical role in systemic redox buffering, red blood cell (RBC) is recognized as a biologically relevant target to investigate the effects of oxidative stress. In RBC, reduction of the ATP levels and adenylate energy charge brings to disturbance in intracellular redox status. In the present work, several popular antioxidant supplements were orally administrated to healthy adults a...
Publication date: Available online 6 October 2019Source: Redox BiologyAuthor(s): Alessandra Pecorelli, Valeria Cordone, Nicolò Messano, Changqing Zhang, Stefano Falone, Fernanda Amicarelli, Joussef Hayek, Giuseppe ValacchiAbstractRett syndrome (RTT) is a progressive neurodevelopmental disorder mainly caused by mutations in the X-linked MECP2 gene. RTT patients show multisystem disturbances associated with an oxinflammatory status. Inflammasomes are multi-protein complexes, responsible for host immune responses against pathogen infections and redox-related cellular stress. Assembly of NLRP3/ASC inflammasome triggers ...
CONCLUSIONS: The U-PART intervention was found to be feasible and effective in the short term in girls and women with RTT. PMID: 31584667 [PubMed - as supplied by publisher]
Conclusion: This is the first case in the literature to demonstrate use of the Individualized Numeric Rating Scale with a child who is nonverbal during a potentially painful physical therapy procedure.
Conclusions: The participants improved functional ability, mood status, relations with family and schoolmates, joint mobility, muscle strength, and endurance during functional activities. Periodic evaluation of exercise heart rates averaged an increase in intensity of 33% above baseline, indicating cardiorespiratory stimulus. This pilot program provides clinical rationale for future studies and clinical interventions for RS children.
Rett syndrome is a neurodevelopmental disorder characterized by loss of speech and stereotypic movements. The TRAPPC11 protein is a part of the transport protein particle complex involved in endoplasmic reticulum to Golgi transportation. As more individuals with limb-girdle muscular dystrophy are reported, the spectrum of neurological disorders associated with mutations in the TRAPPC11 gene is beginning to emerge. Infantile hyperkinetic movements, ataxia and intellectual disability have been previously published.
CONCLUSIONS: The participants improved functional ability, mood status, relations with family and schoolmates, joint mobility, muscle strength, and endurance during functional activities. Periodic evaluation of exercise heart rates averaged an increase in intensity of 33% above baseline, indicating cardiorespiratory stimulus. This pilot program provides clinical rationale for future studies and clinical interventions for RS children. PMID: 31568388 [PubMed - in process]
Abstract Rett syndrome (RTT) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-CpG binding protein 2 (MECP2). Here we will review our current understanding of RTT, the landscape of pathogenic mutations and function of MeCP2, and culminate with recent advances elucidating the distinct DNA methylation landscape in the brain that may explain why disease symptoms are delayed and selective to the nervous system. PMID: 31542590 [PubMed - as supplied by publisher]