There are about 36633 clinical studies being (or have been) conducted in France. The country of the clinical trial is determined by the location of where the clinical research is being studied. Most studies are often held in multiple locations & countries.
The MPL gene is implicated in two groups of hematological pathologies: congenital amegakaryocytic thrombocytopenia (CAMT) and Phi negative myeloproliferative neoplasia (MPN). Fifty germline mutations have been identified in CAMT, yet only a dozen activating mutations have been described in MPN. Most are somatic, distributed mainly in the transmembrane (TM) and juxtamembrane (JM) domains. However, a few rare germline mutations located in the extracellular domain (ECD) have also been reported: K39N, R102P and P106L. Next generation sequencing technology has been used to study the complete MPL gene, identifying numerous variants, most of unknown significance. The study investigators have a series comprising 41 variants of unknown significance, whose allelic frequencies suggest a germline origin for 80% of them. Their distribution within the MPL gene is similar to that of inactivating mutations, except that they were discovered in the context of suspected myeloproliferative disease. Characterizing the activity of these variants would confirm the diagnosis of MPN, opening the door to specific treatment (cytoreductive, JAK2 inhibitor or interferon). It also has an important prognostic value, particularly in the case of MPN, for which life expectancy varies from 5 to 7 years, with terminal progression to acute myeloid leukemia (AML in 15 to 20% of cases) or bone marrow failure. Using a battery of functional assays, this study aims to characterize these variants.
Diaphyseal femoral fracture in children <6 years old are treated by the skin traction technique. As demonstrated by numerous studies, given the significant potential for bone remodeling in young children, remodeling (excluding rotational disorder) allows anatomical correction. The aim of this study is to confirm, via EOS imaging, the absence of residual deformities 3 years after the end of treatment in children treated in Amiens hospital department.
The aim of this study is to perform, in real world clinical practice, a three-dimensional assessment from patient's, caregiver's and physician's perspectives, of the impact of AboBoNT-A on caregiver burden, functional disability and other health care measures in patients affected with ULS due to acquired brain injuries.
The goal of this observational study is to identify diagnostic and prognostic biomarkers for endometriosis using menstrual blood, an easily accessible yet overlooked biological fluid in women of reproductive age, affected or not by endometriosis The main questions it aims to answer are: - are there relevant differences in the menstrual blood of women affected by endometriosis compared to women without endometriosis? - do some of these differences disappear or lessen when the disease is treated by surgery? Participants will answer questions relevant to endometriosis and provide menstrual blood 1 to 3 times (self-collected with a menstrual cup). A subgroup of participants affected by endometriosis that will undergo surgery for their regular care will provide menstrual blood before and after their surgery. Researchers will compare the menstrual blood of women with and without endometriosis, and before and after surgery to see if they can identify significant differences.
Hepatic encephalopathy is (HE) defined by the neurological and/or neuropsychological symptoms caused by an acute or chronic liver disease and/or a portosystemic shunt. Its pathophysiology is still debated, although the synergic role of hyperammonemia and inflammation is now admitted for years. Several additional mechanisms have been suspected, one of them being an altered permeability of the brain blood barrier (BBB). Nevertheless, many aspects remain poorly understood. The rise of "-omics" techniques, and especially metabolomics, allowed to identify more precisely the different metabolic pathways that are involved in the pathophysiology of HE. Using a high flow chemistry technique and multivariate data analysis, metabolomics is an accurate way to understand the pathophysiology and pathogenesis of multifactorial diseases such as HE. Several studies have been published in cirrhosis. It has been suggested that serum metabolites at admission, as well as thyroxine, can predict advanced HE in patients without brain failure. In a cohort including more than 600 patients, a higher microbially-derived metabolites, together with a lower thyroxine level, were associated with further development of brain failure. In another study from the same team, serum and urinary metabolites were significantly different in hospitalised patients who had developed poor outcome or not. Another study conducted in the CANONIC cohort as also found changes in metabolites of patients with cirrhosis and acute-on-chronic liver failure (ACLF), revealing mitochondrial dysfunction in peripheral organs that may contribute to organ failures. Last, our team previously analysed plasma and cerebrospinal fluid (CSF) samples of patients with cirrhosis and HE hospitalised in intensive care unit (ICU), showing alteration in ammonia and amino-acids metabolism, and also in energy metabolism. However, in the latest study, ALCF grading was not available. As many of these patients were in a severe condition, one could hypothesize that the metabolomic changes observed in these patients may have been confounded by an ACLF profile. Therefore, the objective of this study is to characterize the metabolomic fingerprints of HE in patients with cirrhosis, using 4 different groups of patients: patients with or without HE, with or without ALCF.
Adductor canal block is an effective analgesic technique for major knee surgery. However, the saphenous nerve block is not sufficient to explain this block's efficiency. It has been shown that adductor canal block can spread to the tibial and fibular nerves through the adductor hiatus. However this diffusion's frequency has never been measured. The main objective of this study is to assess the frequency of the spread of the adductor canal block to the fibular and tibial nerves assessed by ultrasound observation at the popliteal fossa.
Anti-CASPR2 limbic encephalitis (CASPR2-LE) is a rare neurological disorder primarily affecting males over the age of 50. It is mediated by an autoimmune antibody response in the central nervous system (CNS) against the cellular adhesion molecule contactin-associated protein-like 2 (CASPR2). This protein plays an important role in the trafficking of KV1 channels under the myelin sheath in the juxtaparanodal region of myelinated axons. It is mostly present in the neurons of the limbic system, basal ganglia, and other motor related and sensation areas (Qin, Yang, Zhu, Wang, & Shan, 2021). This distribution explains the diverse clinical manifestations of the disease, primarily characterized by cognitive impairment. Other manifestations include cerebellar ataxia, hyperkinetic movement disorders (HMDs), seizures, and neuropathic pain, which all typically develop around 10.4 months after onset. At last visit, memory impairment is seen in 69% of the patients, cerebellar ataxia in 42% of the patients, and functional dependency in 25% of the patients. Even though most patients' symptoms improve with immune-active treatments, up to 69% of them have long-term memory impairments due to damage to hippocampal structures (Benoit et al., 2023). Research has primarily focused on understanding the disease's clinical features, underlying mechanisms, and potential treatment options. On the other hand, it is shown that MRIs performed at baseline show signal changes in the hippocampus in 62-71% of the patients, and these changes are subject to variations in subsequent follow-up scans, that differ widely among patients as mentioned before (Bien et al., 2017). And since the dynamics of hippocampal volume changes and its association with the development of hippocampal atrophy and long-term cognitive impairment are not well studied yet in CASPR2-LE, we primarily aim to examine the longitudinal changes of hippocampal volume in anti-CASPR2 Limbic Encephalitis (CASPR2-LE) patients to examine whether it correlates to the development of anterograde amnesia and hippocampal atrophy on follow-up.
This study is a multicentric, comparative, randomized, investigator-blinded, parallel group study to demonstrate the non-inferiority of DM934 in comparison with Théalose in terms of cornea and conjunctiva staining (Oxford score) on patients with moderate to severe ocular dryness, after 35 days of treatment
Crohn's disease (CD) belongs to chronic inflammatory bowel diseases (IBD) affecting over 2 million individuals in the North America and 3.2 million in Europe with an increasing incidence rate in newly industrialized countries experiencing a westernization of lifestyle (1). This highly disabling disease affects patients' life in several ways with severe complications requiring surgery for half of them and is responsible for considerable economic burdens (2,3). Decades of research displayed that CD pathogenesis is determined by inappropriate immune responses towards luminal microbiota in genetically susceptible hosts. Genome-wide association studies (GWAS) have identified autophagy as one of the main pathways associated with susceptibility to CD (4-6). Autophagy is a dynamic process of the lysosomal catabolism, called autophagy flux, which is crucial to degrade and recycle obsolete and deleterious cytosolic components of the cell (7). Autophagy is also the main cell-autonomous process to fight intracellular microorganisms by degrading them, and by contributing to antimicrobial host immune responses. However, the functional consequences of polymorphisms affecting autophagy-associated genes on the dynamic process of autophagy and its real impact on CD pathogenesis remain largely unknown. In addition, CD is associated with a gut microbiota dysbiosis, as exemplified by the higher prevalence of AIEC (a bacterium eliminated by autophagy) in ileal mucosa of CD patients (8-10). Hence, autophagy defect, linked to autophagy SNPs, could contribute to CD-related dysbiosis and to CD activity and severity. Beyond, CD-associated abnormalities of the autophagy flux may affect the composition of the autophagic cargoes, as well as the one of other vesicular pathway, such as exosomes, known to influence autophagy. These impairments could affect at longer term both cell activities and immune responses, especially in antigen presenting cells, which drive host immune responses. The TOPIC project concerns translational research, in which we plan to generate a prospective cohort of CD patients giving up the unique opportunity to collect clinical data, to analyse simultaneously the autophagy flux, genetic variants of interest (from blood samples) and intestinal microbiota (from intestinal samples) and allowing to perform more fundamental studies. The results of the fundamental part will allow a better understanding of the pathophysiology of CD, and ultimately better management of these patients.
The goal is to perform a first evaluation of the capabilities of a new generation of non-invasive magnetoencephalography whole head device using optically pumped magnetometers using Helium 4 as the sensitive element (OPM He4) to record brain magnetic activities. The investigators will record 1) healthy subjects stimulated with visual, auditory, somesthesic and motor stimuli and 2) athletes who suffered a mild concussion. The main hypothesis is that the OPM magnetoencephalographs (MEG) system will be able to detect brain activity. The secondary hypothesis is that the data recorded with the OPM MEG system will allow to reconstruct maps of the brain activity. To test the main hypothesis, they will compare the signal to noise ratio of brain activities between a classical MEG system and the new OPM He4 MEG. The secondary hypothesis will be tested through a comparison of the maps of brain activity obtained thanks to the data recorded with a classical MEG system and the new OPM He4 MEG.