Neurogenic Encephalopathy

The GENESIS study is a multicenter, prospective, non-interventional, clinical study with a target of 12,000 subjects and an anticipated total duration of 36 months. The aim of study GENESIS is to provide a pilot map of HLA genetic variation in the Greek population in order to be used in medical research and for possible clinical applications (evaluation of possible correlations with selected underlying diseases). During the study, each subject will conduct one visit to the participating cite, in which they will provide: 1. Demographic information \[i.e. date of birth, gender, race, ancestry (including information about the subject's grandparents' birthplace), height, weight\], 2. Other information about smoking/vaping, alcohol consumption, arterial blood pressure, diagnosed diseases (if any), current treatments (if any), and 3. Recent (up to 12 months prior to sample collection) results if/when are available from clinical lab tests such as blood count (Hct, Hb, RBC, WBC, PLT count), including a metabolic panel, liver enzymes and biochemical parameters (Glu, HbA1c, TC, TG, LDL-C, HDL-C, ALT, AST, ALP, γGT, bilirubin, LDH, insulin, C-peptide). Upon completion of the data registry, two buccal swabs will be collected per subject and they will be stored at ALTP premises until their shipment to Galatea.Bio. All buccal swab samples will be subjected to genetic material (DNA) extraction. The DNA samples will be further proceeded for HLA genotyping analysis. A follow up analysis will be performed in selected DNA samples via full low-pass whole genome sequencing (LP-WGS), which aims to further investigate the association between the HLA region and autoimmune diseases. Upon completion of the analysis, an individualized ancestry report will be securely made available to all study subjects which they can access, as and if they elect to.

Réhabilitus is a remediation program focused on attentional functions and visuospatial, to limit the presence of behavioral disorders among adults with intellectual disabilities. The main objective is to validate the effectiveness of Réhabilitus program on behavioral disorders in adults with intellectual disabilities without autism spectrum disorder associated.

The effectiveness of a multidomain lifestyle intervention on the prevention of cognitive decline and dementia have not been studied in Asian elderly at high risk of dementia conversion. Dementia is caused by both nonmodifiable genetic variables, and modifiable lifestyle risk factors. While neuroimaging biomarkers have been well documented in the neurophysiology of ageing and age-associated cognitive decline, their role as surrogate endpoints and intermediate variables between multi-domain lifestyle intervention and cognitive benefits has not been studied. The current study aims to understand brain functional and structural changes that may result from a multi-domain lifestyle intervention and whether the changes correlate with improvement in cognitive function. At risk elderly aged 60-80 years will be randomly allocated to either the control arm (self-guided management) or the intervention (multi-domain lifestyle) arm, which consists of nutritional guidance, physical exercise, cognitive training and the monitoring and management of vascular and metabolic risk factors. We hypothesize that the multi-domain lifestyle intervention will promote favorable changes in cognitive function. Moreover, such intervention will slow down the progression of cerebrovascular disease and neurodegeneration in participants in the intervention arm. Findings from the present study will shed light on the biological mechanisms of age-related cognitive decline and neurodegenerative disease. Insight obtained from the study could be translated into new targets of nonpharmacological interventions which aim at the potential causal molecular pathways implicated in ageing and age-related cognitive decline. Adaption and implementation of our findings into clinical and public health practice will further promote healthy and confident ageing among Chinese elderly, to eventually expand their health span.

The use of deep brain stimulation (DBS) has expanded to include multiple conditions in children including dystonia, epilepsy, Tourette syndrome and mood disorders. Despite its growing application, DBS remains a low-volume procedure in most pediatric centers, which limits opportunities for large-scale research studies. To overcome this challenge, an international data-sharing platform is essential for advancing knowledge about DBS in pediatric patients, particularly concerning surgical techniques and patient outcomes across various conditions. This study aims to establish a multicenter pediatric DBS registry. With limited data on pediatric DBS outcomes and a small number of cases at individual centers, there is a need for a comprehensive registry to enable large-scale, well-powered analyses of DBS safety and effectiveness. The primary goals of this study are to: * Establish and implement a multi-center pediatric DBS registry * Facilitate large-scale analyses of DBS safety and effectiveness in children * Refine DBS as a treatment option for dystonia and other hyperkinetic movement disorders in children. Secondary objectives include: * Identifying which patients benefit most from DBS * Determining clinical variables that influence DBS responsiveness * Identifying optimal implant sites for specific conditions * Understanding the long-term effects of DBS in children * Assessing the impact of DBS on the quality of life in pediatric patients The study will involve both prospective and retrospective data collection from pediatric DBS patients.

This is a retrospective, multicenter cohort study using anonymized electronic health record data collected in a prospective study (PORC -EDGE 2364) performed at UZA and an identical prospective data collection performed by collegues at Department of Sleep Laboratory and Sleep surgery at Heim Pal National Pediatric Institute at Budapest.Data are collected from otherwise healthy children and children with varying comorbidities undergoing (adeno)-tonsillecty for Obstructive Sleepapnea (OSAS). Per-postoperative management was carried out according to a predefined treatment protocol. As this study uses existing data, no informed consent was required. The aim of the current project is to answer the following questions. * What is the prevalence of Postoperative Respiratory Complications (PORC) in children undergoing surgical treatment for OSA and is the prevalence different according to the underlying comorbid condition (i.e obesity, craniofacial malformation, syndromes Down syndrome, neurological conditions affecting upper airway muscle tone)? * Which factors are associated with the occurrence of PORC (Polysomnogram (PSG) related factors such as obstructive Apnea-Hypopnea Index (oAHI), minimum oxygen saturation during PSG, and patient related factors such as age at time of surgery, presence of a comorbidity)? * Is it possible to develop a management algorithm for postoperative management based upon the risk factors for PORC above.

Despite the improvements in life expectancy, neurodegenerative diseases (NDGs) have become the most dreaded disorders of older people. Aged brains show characteristic changes that are linked to neurodegeneration raising the question of whether these hallmarks represent the harbingers of NDGs. Lifestyle factors including, in particular physical exercise, have given particular attention to factors associated to movement issue as ones of the major factors in modulating the risk of developing NDGs, emphasizing the interest in the muscle-brain axis. Indeed, one of the crucial systems severely affected in several neuromuscular diseases is the loss of effective connection between muscle and nerve, and the neuromuscular junction (NMJ) represents the critical region at the level of which the two entities communicate. Even if controversy exists on whether pathological events beginning at the NMJ precede or follow loss of motor units, some recent data highlight as NGDs (e.g. Amyotrophic Lateral Sclerosis, Alzheimer's Disease, and Parkinson's Disease) and Aging share some common pathologic features such as the loss of fast-twich fiber, a decreased number of synaptic vesicles and sarcopenia giving evidence supports the notion that NMJ dismantlement can occur independently from motor neuron degeneration and may represent an early pathogenic signature of muscle-nerve communication defects. The M-Brain project is an observational, analytical case-control study that will apply a new approach to interpret data underling the NMJ dismantlement in NDGs patients by comparing their clinical and biological information with data obtained from people who have had a so called "good aging" and those who have had a "bad aging". The study will collect data useful to identify potential predisposing or risk factors for the subsequent development of a NDGs or able to predict the phenotype traiectories of selected pathologies with differerent movement levels. The combination of a muscular and neurological phenotyping and a biological characterization combining biomarkers, miRNA and extracellular vesicle (EV) assessments will allow to better identify the determinants of muscle-brain cross-talk that can then be used as potential indicators for the definition of critical morphological and functional components involved in aging and some NGDs. The project then will aim to identify phenotyope trajectories of patients giving particular attention to the brain-muscle axis and movement issues in order to provide information useful for future clinical strategies able to minimaze risk/predisponent Factors.

This is a multinational, multicenter, double-blind, placebo-controlled study in approximately 60 participants, who will be randomized 1:1 to receive a single infusion of either nexiguran ziclumeran or placebo. To ensure all participants will have the potential to receive nexiguran ziclumeran, participants will have the option to cross over to the opposite study arm at Month 12 or Month 18, depending on study criteria.

The study aims to compare the efficacy of combining Bevacizumab with NaviFUS System relative to Bevacizumab alone in patients with rGBM who have previously undergone radiotherapy and temozolomide chemotherapy. Any patient with a histological diagnosis of GBM who meets all of the specific eligibility criteria may participate in this study by signing informed consent in person or through their legal representative. Eligible patients will undergo a 2-week baseline observation screening period. Up to 32 evaluable patients will be recruited in this study. Eligible patients will be randomized in a 1:1 ratio, with one group receiving the standard of care (SoC) BEV alone and the other group receiving treatment with microbubble-mediated FUS treatment in addition to BEV (FUS-MB+BEV). Eligible patients who assigned to the SoC group will follow the standard operating procedures of BEV (10 mg/kg intravenous (IV) infusion over 30-90 minutes). On the other hand, eligible patients assigned to treatment group will initially receive the same BEV schedule. After at least 30 minutes, patients will be administered microbubbles (MB) (SonoVue® ) at a dose of 0.1 mL/kg, along with optimal ultrasound exposure doses determined by the acoustic emission feedback FUS power control algorithm of the NaviFUS System. The treatment will be administered every 2 weeks up to 34 weeks or until evidence of progression disease (PD), intolerable toxicity precluding further treatment, non- compliance with study follow-up, or withdrawal of consent, whichever occurs first.

Overview: The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, which are monogenic diseases causing both movement disorders and epilepsy. Design: Multinational Retrospective Survey: Survey Details: Endorsed by the International Parkinson and Movement Disorder Society, this multinational retrospective survey seeks to gather comprehensive data on: * Clinical Features and Progression: Examining developmental history and treatment responses. * Disease Aspects: Including the age of onset for movement disorders and seizures, genetic variants, and concurrent neurological conditions. Data Harmonization: By standardizing data collection across countries, the survey aims to overcome barriers in rare disease research and provide a unified understanding of these conditions. Study Aims: This study seeks to broaden our understanding of the spectrum and association of movement and seizure disorders through a retrospective review. By analyzing clinical data, the study aims to identify patterns and correlations between these conditions while investigating molecular data to uncover underlying genetic and biochemical mechanisms. The ultimate goal is to enhance knowledge of how these disorders interact and progress over time, offering new insights at both clinical and molecular levels. Overarching Goals: 1. Enhance understanding of movement disorders and epilepsy. 2. Inform precision medicine approaches. 3. Foster international collaboration for rare disease research.

TRAILBLAZER-ALZ 5 is a Phase 3, double-blind, placebo-controlled study to evaluate the safety and efficacy of donanemab in participants with early symptomatic AD (prodromal AD and mild dementia due to AD) and the presence of AD pathology.