
Longitudinal Follow-up Study About Complex Regional Pain Syndrome (CRPS) Patients
Complex Regional Pain Syndrome Type IComplex regional pain syndrome (CRPS) is a post-traumatic chronic pain condition characterized by pain and other symptoms typically affecting a distal limb. Relatively little is known about the prognosis of the course of CRPS .Currently there is no specific test to diagnose CRPS. The primary objective of the study is to investigate prospectively the evolution of CRPS and the impact of the psychosocial factors on health status, recovery, quality of life, and working status of CRPS patients. The secondary objective of the study is to measure blood parameters in CRPS patients to investigate their evolution during the course of CRPS, and maybe to identify distinctive biomarkers associate with CRPS and that could be potential candidate for diagnosis.

Neuroscience of Charles Bonnet Syndrome
Charles Bonnet SyndromeCharles Bonnet Syndrome (CBS) is a condition in which people experience complex visual hallucinations, such as 'Acrobats balancing on bicycles' or 'Spiders crossing meals'. The condition usually occurs in people who have significant vision loss due to eye disease. The aim of this project is to help understand how these hallucinations come about. In the healthy visual system, the eye provides input to a large area of the brain that performs the computations required to allow us to see the world. There are specialised brain regions responsible for processing of faces, objects, motion and colour. When the eye is no longer working, these parts of the brain lose their input and this may lead to abnormal activity. Not all people with eye disease and vision loss develop CBS, so the investigators will use magnetic resonance imaging (MRI) to compare the brains of people with and without the condition. In particular the investigators are interested in measuring the levels of chemicals in the visual areas of the brain to see whether they are disrupted in CBS, leading to the hallucinations. It is possible to measure how the different areas of the visual brain are connected together and see whether this is altered in CBS, perhaps with increases in the strength of connection between specialised areas. These measures will be related to questionnaires about hallucinations and vision. This will be done by comparing low vision who experience Charles Bonnet visual hallucinations compared to low vision patients who do not have hallucinations. Assessments will take place at the Wellcome Centre for Integrative Imaging (WIN) based at the John Radcliffe Hospital. The study will provide insight into the role of the brain in generating CBS hallucinations, helping us to design a larger study and eventually to test whether there are interventions to help improve the condition.

Surfactant for Neonatal Respiratory Distress Syndrome(NRDS) and Neonatal Acute Respiratory Distress...
Respiratory Distress SyndromePreterm Birth2 moreIn preterm infants with neonatal respiratory distress syndrome (NRDS), exogenous pulmonary surfactant(PS) replacement therapy is one of the most important therapeutic breakthrough to reduce neonatal mortality. Nowadays, PS is commonly used in newborn infants with respiratory distress, but the incidences of bronchopulmonary dysplasia(BPD) and/or death are inconsistent. The result indicates that not all preterm infants with respiratory distress can be beneficial from PS. In 2017, the international neonatal ARDS (NARDS) collaborative group provides the first consensus definition for NARDS. And whether or not PS being beneficial for preterm infants with NARDS remains unknown.

Living With Marfan Syndrome and Your Aorta
Marfan SyndromeMarfan Syndrome Cardiovascular ManifestationsMarfan Syndrome (MFS) is a genetic disease affecting the eyes, skeleton, heart and arteries. Despite MFS affecting multiple organ systems, cardiovascular manifestations are the most serious and life threatening. Approximately 80% of adult MFS patients will have a dilated aortic root by age 40 years with aortic aneurysm and dissection the leading causes of morbidity and mortality. Thus, MFS patients require lifelong cardiac surveillance. Living with a diagnosis of Marfan Syndrome and aorto-vascular manifestations affects patients' mental health, well-being and quality of life in ways that are not well understood. This study will address the current knowledge gaps in this area and will provide the information needed to design interventions for MFS patients with aorto-vascular problems to help improve the patients' mental health, well-being and quality of life. The study will include adult MFS patients who have been diagnosed with aorto-vascular problems. The overall aim of the study is to explore the psychosocial and health-related quality of life (HRQoL) effects of the diagnosis for aorto-vascular manifestations of MFS in 3 large UK cardiac centres. To achieve this, the researchers will ask the potential participants, after obtaining informed consent, to complete a series of accepted/validated questionnaires to measure the study participants' health-related quality of life (SF-36 and EQ5D questionnaire) and psychosocial factors such as depression (CES-D questionnaire), fatigue (Fatigue Severity Scale), stigma (Perceived Stigma Questionnaire), self-esteem (Rosenberg Self-esteem Scale), pain and illness perception (Illness Perception Questionnaire). The researcher will also conduct a one-to-one semi-structured interview with some participants to identify factors important to patients that are not captured in the questionnaires used.

From Immune System Damage to Podocyte Cell Damage: Prospective Database and Biological Collection...
Nephrotic SyndromeIdiopathic Nephrotic Syndrome (INS) is a kidney disease characterized by massive proteinuria and hypoalbuminemia. It includes two anatomopathological entities: nephrotic syndrome with minimal glomerular lesions (SNLGM) and primary segmental and focal hyalinosis (PHF). Renal biopsy reveals a fusion of the feet of the podocytes without inflammatory lesions or deposits of immune complexes. Clinical and experimental observations strongly suggest that the immune system and podocyte dysfunction are the two facets of the disease. There are currently no clinical or biological markers to predict the diagnosis of corticosteroid sensitivity, corticosteroid dependence, or risk of recurrence of kidney disease after kidney transplantation. To our knowledge, no prospective studies have been designed to study both immune system alterations and podocyte damage as well as genetic predisposition variants in NIS. Therefore, the use of steroids/immunosuppressive agents is purely empirical with a multitude of side effects. The objective is to identify and test new therapeutic targets rather than conducting new trials with existing treatments, using either drug candidates or molecules selected by high throughput screening of libraries of repositioning molecules using an appropriate read-out. The biobank may also be used to analyze the effects of conventional treatments on identified new biomarkers. We expect the project to produce original and patentable results with subsequent valuation. Patentability will be anticipated before any publication on the subject. The patent and valorization cells of hospitals, INSERM and Universities will be involved in the results as soon as they are obtained.

Study of the Efficacy and Safety of RPH-104 in Adult Subjects With Schnitzler Syndrome
Schnitzler SyndromeUrticarial Vasculitis With Monoclonal Immunoglobulin M Component1 moreThe primary goal of the study is to assess the efficacy and safety of RPH-104 in subjects with Schnitzler Syndrome using Schnitzler Disease Activity Score (SDAS), which includes the Physician's Global Assessment (PGA) and the local laboratory C-reactive protein (CRP) result

Dietary Practices and Metabolic Syndrome in the Young Adult Population of Rwanda
Metabolic SyndromeNutritional Status1 morePolicy makers in Rwanda have recently highlighted the importance of promoting healthy diets and lifestyle in response to rapidly increasing rates of obesity. This project will provide evidence on shifts in diet and nutritional status in urban dwellers as compared to the traditional diet and lifestyle in rural areas as a basis for a targeted public health policy for Rwanda.

Protective Effect of Early High Dose stATins On Cardiovascular and Renal Events in Acute Coronary...
Acute Coronary SyndromeRegistration of all ACS patients (STEMI and NSTEMI) admitted to the cardiology ward and scheduled for early invasive strategy. The aim is to evaluate the protective effects of early (on admission) high-dose high-potency statin therapy on early and mid-term cardiac and renal events in this subset of patients.

Trial-Ready Cohort-Down Syndrome (TRC-DS)
Down SyndromeAlzheimer Disease1 moreThe purpose of the Trial-Ready Cohort - Down Syndrome (TRC-DS) is to enroll 120 healthy adults with Down syndrome (DS), between the ages of 25-55, into a trial ready cohort (TRC), and up to 250 participants in total including co-enrolled in the Alzheimer Biomarkers Consortium - Down Syndrome (ABC-DS) study. Participants enrolled in the TRC-DS will undergo longitudinal cognitive and clinical assessment, genetic and biomarker testing, as well as imaging and biospecimen collection. Using these outcome measures, researchers will analyze the relationships between cognitive measures and biomarkers of Alzheimer's disease (AD) to identify endpoints for AD clinical trials in DS that best reflect disease progression. To learn more about the study and participating sites, visit our study website at: https://www.trcds.org/. TRC-DS is collaborating with the Alzheimer's Disease Biomarker Consortium-Down Syndrome (ABC-DS) to allow study participants to be concurrently enrolled in both ABC-DS and TRC-DS, referred to as "co-enrollment". ABC-DS is a longitudinal, observational research study that is overseen at University of Pittsburgh Coordinating Center. ABC-DS participants who express interest in potentially joining a clinical trial in the future and who meet TRC-DS eligibility criteria, may choose to co-enroll in TRC-DS at an ABC-DS Site. Co-enrolled participants will adhere to the ABC-DS protocol and schedule of activities, but agree to share their data with the TRC-DS team and to receive invitations for future participation in clinical trials. Fore more information on ABC-DS please visit https://www.nia.nih.gov/research/abc-ds or http://abcds.pitt.edu/.

Registry Study on Patient Characteristics, Biological Disease Profile and Clinical Outcome in Acute...
Acute Myeloid Leukemia (AML)Higher Risk Myelodysplastic Syndromes (MDS With Excess Blasts 2)This is a registry study in adult patients with newly diagnosed or refractory/relapsed myeloid neoplasms Investigator's sites: 60-70 sites in Germany and Austria Estimated duration of observation of an individual patient: 10 years maximum Objectives To register all patients with acute myeloid leukemia and related precursor neoplasms, acute leukemia of unambiguous lineage, with higher risk myelodysplastic syndromes (MDS with excess blasts 2), and with myeloid neoplasms with germline predisposition, newly diagnosed or relapsed/refractory in all participating centers (completeness) To perform timely analyses of disease-related genetic markers (incidences, treatment recommendations) To assess patient and family history, clinical characteristics and outcome data (event-free survival [EFS], cumulative incidence of relapse [CIR], cumulative incidence of death [CID], overall survival [OS]) To assess biological disease features and correlate with clinical outcome data (prognostic and predictive markers) To store biosamples from all patients (e.g., bone marrow, blood, plasma, normal tissue, e.g., skin biopsy, buccal swap, finger nails, hairs, or sputum) To assess quality of life