Fiche société
Centre Hospitalier Universitaire de Nice
Traitements, essais et publications liés.
Traitements18programmes
Essais12liés
Publications26liées
SourceDBlocale
Traitements
18| Molécule | Indication / population | Phase | Objectif | Pays | Résultat |
|---|---|---|---|---|---|
| AmilorideRecent data suggest involvement of Acid-Sensing Ion Channel channels in the pathophysiology of migraine making these channels a therapeutic target of migraine disease. The implication of Acid-Sensing Ion Channels is discussed through Acid-Sensing Ion Channel-1 which is the most expressed Acid-Sensing Ion Channel channel subtype in the central nervous system. In a mouse model, cortical spreading depression is inhibited by different Acid-Sensing Ion Channel blockers including amiloride which is a non-selective blocker of the Acid-Sensing Ion Channel-1 channel. From a translational perspective, an efficacy of amiloride on a series of migraine patients suffering from severe aura in open conditions. The APAM study is a proof-of-concept study that aims to evaluate the effect of amiloride in the prophylaxis of migraine with aura. This is a randomized crossover study versus placebo conducted in 3 French headache centers. | Migraine | Phase 2 | À vérifier | France | À vérifier |
| CV4DIAGNOSIS — Computerized Facial Recognition for Automated Diagnosis of the Facio-Scapulo-Humeral Muscular Dystrophy (FSMHD)The clinical diagnosis of Facio-Scapulo-Humeral Muscular Dystrophy (FSHMD) requires the movement of patients to a medical centre and a lengthy examination involving medical personnel, and may be underestimated in the most moderate cases. Thus, it requires costly and burdensome logistics both for patients living in remote areas and having to undertake long and expensive travel, and for clinical staff. This is an obstacle to large-scale diagnosis. The investigators plan to alleviate these limitations through the use of digital facial analysis technology that would enable large-scale diagnosis of patients through telemedicine. Motivated by the reasons described above and by preliminary results, the goal of this project is to develop methods to automatically detect and monitor the progression of this disease using computer vision algorithms. In order to do this, the investigators will first build up a bank of images and videos of patients with moderate to severe FSHMD, patients with other muscular dystrophies causing facial muscle asymmetry, as well as control subjects without facial involvement. Each of these subjects will be characterized clinically and genetically. The investigators will then develop computer tools using video and audio sensors capable of detecting facial muscle damage in patients with FSHMD and differentiating them from control subjects on the one hand and patients with other muscular dystrophies on the other hand. The investigators wish to use the most recent advances in terms of "deep-learning" and improve their architecture in order to achieve our objectives. In addition to this holistic approach, the investigators will study facial recognition approaches capable of accurately identifying different facial areas on images, as well as the relevance of different statistical properties of facial dynamics (duration and intensity). These algorithms will also be useful for monitoring the evolution of facial damage in order to develop a specific measurement tool that could be used in patient follow-up and in clinical trials on early stages of the disease. | Myopathies | Non applicable | Ralentissement de la progression | France | À vérifier |
| EARLY-MG — Evaluation of the Condition of Patients Receiving EARLY Ravulizumab and Admitted in ICU for gMG CrisisMyasthenia Gravis (MG) is a rare autoimmune disease that causes muscle weakness and fatigue. It occurs when the immune system produces antibodies that block communication between nerves and muscles. In some patients, the disease can suddenly worsen and cause severe breathing problems. This life-threatening situation is called a myasthenic crisis and requires immediate treatment in an intensive care unit (ICU). During such crises, patients may need to receive respiratory assistance through a ventilator. These episodes are often long and can lead to complications such as infections or heart problems. To manage a myasthenic crisis, doctors usually use treatments that remove or neutralize the harmful antibodies: plasma exchange (PLEX) or intravenous immunoglobulin (IVIg). Although both are effective, recovery can be slow, and many patients remain in the ICU for several weeks. Ravulizumab (Ultomiris®) is a new medicine that targets a specific part of the immune system called the complement system, which contributes to muscle damage in MG. It is already approved for adults with generalized MG who have anti-acetylcholine receptor (AChR) antibodies. Ravulizumab is given by intravenous infusion every eight weeks. Clinical studies have shown that it can improve symptoms within one week of starting treatment. Some doctors have started using ravulizumab early, after PLEX or IVIg, for patients hospitalized in the ICU for a myasthenic crisis. Early use of this treatment could help reduce the duration and severity of the crisis, leading to faster recovery and shorter hospital stays. However, there is currently no national study that systematically collects data on this approach. The EARLY-MG study aims to describe the condition and recovery of patients who receive ravulizumab early during a myasthenic crisis requiring ICU admission. The study will not test an experimental treatment or change medical care. It is an observational study. The main hypothesis of the study is that early administration of ravulizumab, after PLEX or IVIg, may help patients recover faster, improve muscle strength, and reduce complications and hospital stay. Around 30 adult patients with generalized MG and anti-AChR antibodies will be enrolled in 10 centers across France. Each patient will be followed for 26 weeks (about six months). Assessments will be performed at the start of the study and at weeks 2, 4, 10, 18, and 26. Investigators will collect information such as: * Duration of stay in the ICU and in the hospital after receiving ravulizumab * Duration of mechanical ventilation, if needed * Clinical improvement using standard evaluation scales (Myasthenia Gravis Activities of Daily Living, MG Foundation of America classification, and Garches' score) * Occurrence of any complications or additional treatments The study will last about 18 months in total, including one year for patient inclusion and six months of follow-up per patient. The results may help guide future recommendations and improve patient care in France and worldwide. | Myasthénie | À vérifier | Traitement symptomatique | France | À vérifier |
| INSIGHT FSHD2 — An 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease ProgressionFacioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited myopathies in adults. It is associated with genetic and epigenetic deregulation of the D4Z4 locus on the sub-telomeric region of chromosome 4q35, resulting in abnormal expression of DUX4p. Type 1 FSHD (FSHD1) is the most common form of the disease and accounts for 95% of cases, while Type 2 FSHD (FSHD2) accounts for only 5% of all FSHD cases. FSHD1 and FSHD2 are closely related in terms of genetic and epigenetic foundations, pathophysiology and clinical manifestations. Although initially described as distinct entities based on their genetics, recent information suggests that both forms of myopathy may represent the opposite ends of a spectrum of molecular diseases in which alteration of the genetic and epigenetic factors that govern DUX4 suppression in skeletal muscle have a different impact in both forms of the disease. FSHD1 and FSHD2 are both associated with re-expression of DUX4 leading to muscle atrophy, but the genetics underlying this re-expression are different, depending on whether it is type 1 or type 2. For FSHD1, it is associated with a critical contraction of the D4Z4 region and the 4qA permissive allele, leading to the expression of DUX4. In contrast, FSHD2 is caused by the inheritance of two independent genetic variations. A heterozygous mutation, mainly located on the SMCHD1 (Structural Maintenance of Chromosome flexible Hinge Domain containing 1) gene, results in a loss of function of chromatin D4Z4 repressor. This mutation, combined with the 4qA allele bearing the DU4 polyadenylation site, makes this allele permissive for the expression of the DUX4 topical gene. Therefore, because the two forms of FSHD are genetically distinct and very few patients have FSHD2, our knowledge of the impact of chromatin D4Z4 repressors, such as SMCHD1, or the progression and severity of the disease remains very limited. It is important to note that a lack of reliable biomarkers specific to the severity and progression of the disease may prevent the development of therapies to treat patients with FSHD2. This study will allow us to better understand the natural progression of FSHD2 over time, to assess the responsiveness of clinical outcome measures (COMs) and to identify and validate inflammatory serum biomarkers predicting the severity and progression of the disease. | Myopathies | Non applicable | Ralentissement de la progression + Immunomodulation | Belgium, France, Italy, Netherlands, Spain | À vérifier |
| Manual muscular testThe facial-glenohumeral muscular dystrophy type 1 (DMFSH1) is characterized by a selective and asymmetrical involvement of the facial muscles, the shoulder girdle and the anterolateral lodge legs. Genetically, the disease is transmitted in an autosomal dominant manner and is caused by a pathogen contraction of repeat units (UR) say D4Z4 localized to the telomeric portion of chromosome 4qA. The loss of UR causes hypomethylation of DNA and chromatin relaxation of the region that lead to inappropriate expression of DUX4 retrogene highly toxic. The inappropriate expression induces a T cell reaction inflammatory response that participate and increase muscle damage. In favor of this hypothesis, several muscle MRI studies have shown that atrophy and fibro-adipose degeneration (hyper signal in T1) were preceded by the appearance of muscle inflammation (hyper signal T2STIR) confirmed on histologically and dysregulation of genes involved in adaptive and innate immunity. scientific hypothesis and potential benefits: the investigateur hypothesize that in patients of DMFSH1, the immune system cells may participate in the pathophysiology of the disease through changes in serum secretion of one or more cytokines and / or a modification of the response of inflammatory cells in some cell damage stimuli. Design: this is a single-center pilot study, interventional. In this study, the investigator will assay the serum cytokines and changes in peripheral blood cells of the expression of cytokines in response to some stimuli in 20 patients with Type 1 DMFSH genetically confirmed at an intermediate stage of clinical disease (kept walking, but at least one muscle of lower limbs reached) and compare with controls from the CYTOKINAGE study. The investigator will also carry patients clinical testing (MMT sum score) and functional (6minute test march MFM) and a MRI not injected whole body (T1 sequences + and T2STIR) to study the relationship between these parameters and secretion cytokines or serum in response to certain stimuli Main objective: to compare serum levels of IL-6 in patients with DMFSH and controls. | Myopathies | NA | Immunomodulation + Thérapie cellulaire | France | À vérifier |
| Motrice fonction mesurementThe facial-glenohumeral muscular dystrophy type 1 (DMFSH1) is characterized by a selective and asymmetrical involvement of the facial muscles, the shoulder girdle and the anterolateral lodge legs. Genetically, the disease is transmitted in an autosomal dominant manner and is caused by a pathogen contraction of repeat units (UR) say D4Z4 localized to the telomeric portion of chromosome 4qA. The loss of UR causes hypomethylation of DNA and chromatin relaxation of the region that lead to inappropriate expression of DUX4 retrogene highly toxic. The inappropriate expression induces a T cell reaction inflammatory response that participate and increase muscle damage. In favor of this hypothesis, several muscle MRI studies have shown that atrophy and fibro-adipose degeneration (hyper signal in T1) were preceded by the appearance of muscle inflammation (hyper signal T2STIR) confirmed on histologically and dysregulation of genes involved in adaptive and innate immunity. scientific hypothesis and potential benefits: the investigateur hypothesize that in patients of DMFSH1, the immune system cells may participate in the pathophysiology of the disease through changes in serum secretion of one or more cytokines and / or a modification of the response of inflammatory cells in some cell damage stimuli. Design: this is a single-center pilot study, interventional. In this study, the investigator will assay the serum cytokines and changes in peripheral blood cells of the expression of cytokines in response to some stimuli in 20 patients with Type 1 DMFSH genetically confirmed at an intermediate stage of clinical disease (kept walking, but at least one muscle of lower limbs reached) and compare with controls from the CYTOKINAGE study. The investigator will also carry patients clinical testing (MMT sum score) and functional (6minute test march MFM) and a MRI not injected whole body (T1 sequences + and T2STIR) to study the relationship between these parameters and secretion cytokines or serum in response to certain stimuli Main objective: to compare serum levels of IL-6 in patients with DMFSH and controls. | Myopathies | NA | Immunomodulation + Thérapie cellulaire | France | À vérifier |
| MYAOUS — Sexual and Urinary Dysfunctions in Generalized MyastheniaMyasthenia gravis is an autoimmune disease caused by specific autoantibodies that disrupt the function of the neuromuscular junction. It manifests as excessive fatigue of the skeletal muscles during physical exertion and affects 15,000 people in France. Initial symptoms are most often ocular (ptosis, diplopia) but can later spread throughout the body, potentially leading in some cases to respiratory failure and/or swallowing difficulties (myasthenic crisis) or even death. This condition is currently being managed more effectively through treatment, and the invisible symptoms (sexual dysfunction, sphincter dysfunction, psychological impact, etc.) may ultimately be more debilitating than the initial symptoms, which are often controlled by maintenance and/or symptomatic treatments. The impact of myasthenia gravis on intimate life remains a taboo subject and is poorly understood by both the medical community and patients. In the literature, only a single article from 2021 addresses sexual dysfunction in patients with myasthenia gravis. Urinary disorders in myasthenia gravis are frequently reported but have also been little studied. A national survey, conducted using an online questionnaire distributed by patient associations, shed light on the disease's impact on patients' intimate lives. In this study of 190 patients, 46 of them responded to the question about sexual function, and one in two patients reported sexual complaints; in 46% of cases, this disorder significantly impacted the patients' daily lives. In particular, a decrease in the frequency of sexual intercourse with a partner was noted in 55% of cases, as well as a decrease in sexual desire in 51% of cases. Sexual dysfunction is very common and underreported in many chronic neurological diseases. The Sexual Complaints Screener (SCS W/M) questionnaires for women and men in English have very recently been validated in French (Questionnaires de Plaintes Sexuelles, QPS F/H). It now have a 10-item self-administered questionnaire that assesses the full range of sexual disorders and their impact. In conclusion, while the visible symptoms of myasthenia gravis are widely recognized, the invisible symptoms-such as genitourinary and sphincter disorders-remain largely unrecognized and underdiagnosed. It is therefore essential to conduct systematic screening in order to best guide our patients and thereby improve their quality of life. | Myasthénie | À vérifier | Traitement symptomatique | France | À vérifier |
| PRIMECHO — Preparation for Medical and Surgical Procedures in Oncogeriatry.Surgical management is one of the most frequently used interventions in the treatment of many cancers, but it can be associated with a high risk of postoperative complications. The maintenance and optimization of functional abilities before, during and after treatment are major for elderly cancer patients, as it is now well established that there is a link between the level of functional capacity and the occurrence of these complications. The scientific literature shows that the benefits of pre- and post-operative training programs, but these benefits only apply to a fraction of the patients adhering to the programs. The modalities of intervention (training load, follow-up, etc.) as well as patient involvement in these programs are major issues that need to be addressed to optimize their benefits. Individualizing pre-habilitation, on the basis of the management of the training load, and therefore objective fatigue, would enable better patient adherence to the program, and optimize its benefits. In this context, the PRIMECHO project aims to individualize pre-habilitation in order to improve functional of patients in the pre-habilitation or accelerated recovery after surgery phase. The aim is for the patient to be in optimum physical condition at the time of the intervention or treatment. | Cancer | Non applicable | Traitement symptomatique | France | À vérifier |
| REAL MG PRO — Monitor the Evolution of Myasthenia Gravis Symptoms in Real-life in Patients With Anti-AChR and Anti-MUSK Generalised Myasthenia Gravis in Therapy With RYSTIGGO® (RozGeneralized Myasthenia Gravis (gMG) is a rare autoimmune disease (a disease in which the body attacks its own tissues) that causes muscle weakness and significant fatigue. Current treatments (corticosteroids, plasma exchange, intravenous immunoglobulin infusions) improve symptoms in many patients. However, many continue to suffer from fatigue and fatigability that are not well measured by standard tools. Moreover, these treatments can cause significant long-term side effects, reducing quality of life. New treatments such as Rozanolixizumab (ROZ) are now available. They act rapidly and are well tolerated, allowing better symptom control while reducing the risks associated with conventional treatments. To properly evaluate these new treatments, it is essential to understand patients' perspectives on their effectiveness. The scales used by physicians do not always capture all the symptoms experienced by patients, particularly fatigability. This is why a new tool has been developed: the MG symptoms PRO. This questionnaire allows patients to assess their own symptoms (fatigue, weakness of the eyes, mouth, breathing, muscle fatigability) in detail. This research aims to better understand the effectiveness of treatments from the patients' perspective in order to improve their care. The goal of the study is to evaluate the impact of Rozanolixizumab administration in real-world practice through the MG symptoms PRO questionnaire. This is an observational study, meaning that the medication is prescribed by the physician according to current regulations, and the study simply collects routine medical data during your follow-up, over a period of approximately 9 months. | Myasthénie | À vérifier | Traitement symptomatique | France | À vérifier |
| test of walkThe facial-glenohumeral muscular dystrophy type 1 (DMFSH1) is characterized by a selective and asymmetrical involvement of the facial muscles, the shoulder girdle and the anterolateral lodge legs. Genetically, the disease is transmitted in an autosomal dominant manner and is caused by a pathogen contraction of repeat units (UR) say D4Z4 localized to the telomeric portion of chromosome 4qA. The loss of UR causes hypomethylation of DNA and chromatin relaxation of the region that lead to inappropriate expression of DUX4 retrogene highly toxic. The inappropriate expression induces a T cell reaction inflammatory response that participate and increase muscle damage. In favor of this hypothesis, several muscle MRI studies have shown that atrophy and fibro-adipose degeneration (hyper signal in T1) were preceded by the appearance of muscle inflammation (hyper signal T2STIR) confirmed on histologically and dysregulation of genes involved in adaptive and innate immunity. scientific hypothesis and potential benefits: the investigateur hypothesize that in patients of DMFSH1, the immune system cells may participate in the pathophysiology of the disease through changes in serum secretion of one or more cytokines and / or a modification of the response of inflammatory cells in some cell damage stimuli. Design: this is a single-center pilot study, interventional. In this study, the investigator will assay the serum cytokines and changes in peripheral blood cells of the expression of cytokines in response to some stimuli in 20 patients with Type 1 DMFSH genetically confirmed at an intermediate stage of clinical disease (kept walking, but at least one muscle of lower limbs reached) and compare with controls from the CYTOKINAGE study. The investigator will also carry patients clinical testing (MMT sum score) and functional (6minute test march MFM) and a MRI not injected whole body (T1 sequences + and T2STIR) to study the relationship between these parameters and secretion cytokines or serum in response to certain stimuli Main objective: to compare serum levels of IL-6 in patients with DMFSH and controls. | Myopathies | NA | Immunomodulation + Thérapie cellulaire | France | À vérifier |
| test of walkThe facial-glenohumeral muscular dystrophy type 1 (DMFSH1) is characterized by a selective and asymmetrical involvement of the facial muscles, the shoulder girdle and the anterolateral lodge legs. Genetically, the disease is transmitted in an autosomal dominant manner and is caused by a pathogen contraction of repeat units (UR) say D4Z4 localized to the telomeric portion of chromosome 4qA. The loss of UR causes hypomethylation of DNA and chromatin relaxation of the region that lead to inappropriate expression of DUX4 retrogene highly toxic. The inappropriate expression induces a T cell reaction inflammatory response that participate and increase muscle damage. In favor of this hypothesis, several muscle MRI studies have shown that atrophy and fibro-adipose degeneration (hyper signal in T1) were preceded by the appearance of muscle inflammation (hyper signal T2STIR) confirmed on histologically and dysregulation of genes involved in adaptive and innate immunity. scientific hypothesis and potential benefits: the investigateur hypothesize that in patients of DMFSH1, the immune system cells may participate in the pathophysiology of the disease through changes in serum secretion of one or more cytokines and / or a modification of the response of inflammatory cells in some cell damage stimuli. Design: this is a single-center pilot study, interventional. In this study, the investigator will assay the serum cytokines and changes in peripheral blood cells of the expression of cytokines in response to some stimuli in 20 patients with Type 1 DMFSH genetically confirmed at an intermediate stage of clinical disease (kept walking, but at least one muscle of lower limbs reached) and compare with controls from the CYTOKINAGE study. The investigator will also carry patients clinical testing (MMT sum score) and functional (6minute test march MFM) and a MRI not injected whole body (T1 sequences + and T2STIR) to study the relationship between these parameters and secretion cytokines or serum in response to certain stimuli Main objective: to compare serum levels of IL-6 in patients with DMFSH and controls. | Myopathies | NA | Immunomodulation + Thérapie cellulaire | France | À vérifier |
| AmilorideRecent data suggest involvement of Acid-Sensing Ion Channel channels in the pathophysiology of migraine making these channels a therapeutic target of migraine disease. The implication of Acid-Sensing Ion Channels is discussed through Acid-Sensing Ion Channel-1 which is the most expressed Acid-Sensing Ion Channel channel subtype in the central nervous system. In a mouse model, cortical spreading depression is inhibited by different Acid-Sensing Ion Channel blockers including amiloride which is a non-selective blocker of the Acid-Sensing Ion Channel-1 channel. From a translational perspective, an efficacy of amiloride on a series of migraine patients suffering from severe aura in open conditions. The APAM study is a proof-of-concept study that aims to evaluate the effect of amiloride in the prophylaxis of migraine with aura. This is a randomized crossover study versus placebo conducted in 3 French headache centers. | Migraine | Phase 2 | À vérifier | France | À vérifier |
| MYAOUS — Sexual and Urinary Dysfunctions in Generalized MyastheniaMyasthenia gravis is an autoimmune disease caused by specific autoantibodies that disrupt the function of the neuromuscular junction. It manifests as excessive fatigue of the skeletal muscles during physical exertion and affects 15,000 people in France. Initial symptoms are most often ocular (ptosis, diplopia) but can later spread throughout the body, potentially leading in some cases to respiratory failure and/or swallowing difficulties (myasthenic crisis) or even death. This condition is currently being managed more effectively through treatment, and the invisible symptoms (sexual dysfunction, sphincter dysfunction, psychological impact, etc.) may ultimately be more debilitating than the initial symptoms, which are often controlled by maintenance and/or symptomatic treatments. The impact of myasthenia gravis on intimate life remains a taboo subject and is poorly understood by both the medical community and patients. In the literature, only a single article from 2021 addresses sexual dysfunction in patients with myasthenia gravis. Urinary disorders in myasthenia gravis are frequently reported but have also been little studied. A national survey, conducted using an online questionnaire distributed by patient associations, shed light on the disease's impact on patients' intimate lives. In this study of 190 patients, 46 of them responded to the question about sexual function, and one in two patients reported sexual complaints; in 46% of cases, this disorder significantly impacted the patients' daily lives. In particular, a decrease in the frequency of sexual intercourse with a partner was noted in 55% of cases, as well as a decrease in sexual desire in 51% of cases. Sexual dysfunction is very common and underreported in many chronic neurological diseases. The Sexual Complaints Screener (SCS W/M) questionnaires for women and men in English have very recently been validated in French (Questionnaires de Plaintes Sexuelles, QPS F/H). It now have a 10-item self-administered questionnaire that assesses the full range of sexual disorders and their impact. In conclusion, while the visible symptoms of myasthenia gravis are widely recognized, the invisible symptoms-such as genitourinary and sphincter disorders-remain largely unrecognized and underdiagnosed. It is therefore essential to conduct systematic screening in order to best guide our patients and thereby improve their quality of life. | Myasthénie | À vérifier | Traitement symptomatique | France | À vérifier |
| REAL MG PRO — Monitor the Evolution of Myasthenia Gravis Symptoms in Real-life in Patients With Anti-AChR and Anti-MUSK Generalised Myasthenia Gravis in Therapy With RYSTIGGO® (RozGeneralized Myasthenia Gravis (gMG) is a rare autoimmune disease (a disease in which the body attacks its own tissues) that causes muscle weakness and significant fatigue. Current treatments (corticosteroids, plasma exchange, intravenous immunoglobulin infusions) improve symptoms in many patients. However, many continue to suffer from fatigue and fatigability that are not well measured by standard tools. Moreover, these treatments can cause significant long-term side effects, reducing quality of life. New treatments such as Rozanolixizumab (ROZ) are now available. They act rapidly and are well tolerated, allowing better symptom control while reducing the risks associated with conventional treatments. To properly evaluate these new treatments, it is essential to understand patients' perspectives on their effectiveness. The scales used by physicians do not always capture all the symptoms experienced by patients, particularly fatigability. This is why a new tool has been developed: the MG symptoms PRO. This questionnaire allows patients to assess their own symptoms (fatigue, weakness of the eyes, mouth, breathing, muscle fatigability) in detail. This research aims to better understand the effectiveness of treatments from the patients' perspective in order to improve their care. The goal of the study is to evaluate the impact of Rozanolixizumab administration in real-world practice through the MG symptoms PRO questionnaire. This is an observational study, meaning that the medication is prescribed by the physician according to current regulations, and the study simply collects routine medical data during your follow-up, over a period of approximately 9 months. | Myasthénie | À vérifier | Traitement symptomatique | France | À vérifier |
| CV4DIAGNOSIS — Computerized Facial Recognition for Automated Diagnosis of the Facio-Scapulo-Humeral Muscular Dystrophy (FSMHD)The clinical diagnosis of Facio-Scapulo-Humeral Muscular Dystrophy (FSHMD) requires the movement of patients to a medical centre and a lengthy examination involving medical personnel, and may be underestimated in the most moderate cases. Thus, it requires costly and burdensome logistics both for patients living in remote areas and having to undertake long and expensive travel, and for clinical staff. This is an obstacle to large-scale diagnosis. The investigators plan to alleviate these limitations through the use of digital facial analysis technology that would enable large-scale diagnosis of patients through telemedicine. Motivated by the reasons described above and by preliminary results, the goal of this project is to develop methods to automatically detect and monitor the progression of this disease using computer vision algorithms. In order to do this, the investigators will first build up a bank of images and videos of patients with moderate to severe FSHMD, patients with other muscular dystrophies causing facial muscle asymmetry, as well as control subjects without facial involvement. Each of these subjects will be characterized clinically and genetically. The investigators will then develop computer tools using video and audio sensors capable of detecting facial muscle damage in patients with FSHMD and differentiating them from control subjects on the one hand and patients with other muscular dystrophies on the other hand. The investigators wish to use the most recent advances in terms of "deep-learning" and improve their architecture in order to achieve our objectives. In addition to this holistic approach, the investigators will study facial recognition approaches capable of accurately identifying different facial areas on images, as well as the relevance of different statistical properties of facial dynamics (duration and intensity). These algorithms will also be useful for monitoring the evolution of facial damage in order to develop a specific measurement tool that could be used in patient follow-up and in clinical trials on early stages of the disease. | Myopathies | Non applicable | Ralentissement de la progression | France | À vérifier |
| INSIGHT FSHD2 — An 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease ProgressionFacioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited myopathies in adults. It is associated with genetic and epigenetic deregulation of the D4Z4 locus on the sub-telomeric region of chromosome 4q35, resulting in abnormal expression of DUX4p. Type 1 FSHD (FSHD1) is the most common form of the disease and accounts for 95% of cases, while Type 2 FSHD (FSHD2) accounts for only 5% of all FSHD cases. FSHD1 and FSHD2 are closely related in terms of genetic and epigenetic foundations, pathophysiology and clinical manifestations. Although initially described as distinct entities based on their genetics, recent information suggests that both forms of myopathy may represent the opposite ends of a spectrum of molecular diseases in which alteration of the genetic and epigenetic factors that govern DUX4 suppression in skeletal muscle have a different impact in both forms of the disease. FSHD1 and FSHD2 are both associated with re-expression of DUX4 leading to muscle atrophy, but the genetics underlying this re-expression are different, depending on whether it is type 1 or type 2. For FSHD1, it is associated with a critical contraction of the D4Z4 region and the 4qA permissive allele, leading to the expression of DUX4. In contrast, FSHD2 is caused by the inheritance of two independent genetic variations. A heterozygous mutation, mainly located on the SMCHD1 (Structural Maintenance of Chromosome flexible Hinge Domain containing 1) gene, results in a loss of function of chromatin D4Z4 repressor. This mutation, combined with the 4qA allele bearing the DU4 polyadenylation site, makes this allele permissive for the expression of the DUX4 topical gene. Therefore, because the two forms of FSHD are genetically distinct and very few patients have FSHD2, our knowledge of the impact of chromatin D4Z4 repressors, such as SMCHD1, or the progression and severity of the disease remains very limited. It is important to note that a lack of reliable biomarkers specific to the severity and progression of the disease may prevent the development of therapies to treat patients with FSHD2. This study will allow us to better understand the natural progression of FSHD2 over time, to assess the responsiveness of clinical outcome measures (COMs) and to identify and validate inflammatory serum biomarkers predicting the severity and progression of the disease. | Myopathies | Non applicable | Ralentissement de la progression + Immunomodulation | Belgium, France, Italy, Netherlands, Spain | À vérifier |
| EARLY-MG — Evaluation of the Condition of Patients Receiving EARLY Ravulizumab and Admitted in ICU for gMG CrisisMyasthenia Gravis (MG) is a rare autoimmune disease that causes muscle weakness and fatigue. It occurs when the immune system produces antibodies that block communication between nerves and muscles. In some patients, the disease can suddenly worsen and cause severe breathing problems. This life-threatening situation is called a myasthenic crisis and requires immediate treatment in an intensive care unit (ICU). During such crises, patients may need to receive respiratory assistance through a ventilator. These episodes are often long and can lead to complications such as infections or heart problems. To manage a myasthenic crisis, doctors usually use treatments that remove or neutralize the harmful antibodies: plasma exchange (PLEX) or intravenous immunoglobulin (IVIg). Although both are effective, recovery can be slow, and many patients remain in the ICU for several weeks. Ravulizumab (Ultomiris®) is a new medicine that targets a specific part of the immune system called the complement system, which contributes to muscle damage in MG. It is already approved for adults with generalized MG who have anti-acetylcholine receptor (AChR) antibodies. Ravulizumab is given by intravenous infusion every eight weeks. Clinical studies have shown that it can improve symptoms within one week of starting treatment. Some doctors have started using ravulizumab early, after PLEX or IVIg, for patients hospitalized in the ICU for a myasthenic crisis. Early use of this treatment could help reduce the duration and severity of the crisis, leading to faster recovery and shorter hospital stays. However, there is currently no national study that systematically collects data on this approach. The EARLY-MG study aims to describe the condition and recovery of patients who receive ravulizumab early during a myasthenic crisis requiring ICU admission. The study will not test an experimental treatment or change medical care. It is an observational study. The main hypothesis of the study is that early administration of ravulizumab, after PLEX or IVIg, may help patients recover faster, improve muscle strength, and reduce complications and hospital stay. Around 30 adult patients with generalized MG and anti-AChR antibodies will be enrolled in 10 centers across France. Each patient will be followed for 26 weeks (about six months). Assessments will be performed at the start of the study and at weeks 2, 4, 10, 18, and 26. Investigators will collect information such as: * Duration of stay in the ICU and in the hospital after receiving ravulizumab * Duration of mechanical ventilation, if needed * Clinical improvement using standard evaluation scales (Myasthenia Gravis Activities of Daily Living, MG Foundation of America classification, and Garches' score) * Occurrence of any complications or additional treatments The study will last about 18 months in total, including one year for patient inclusion and six months of follow-up per patient. The results may help guide future recommendations and improve patient care in France and worldwide. | Myasthénie | À vérifier | Traitement symptomatique | France | À vérifier |
| PRIMECHO — Preparation for Medical and Surgical Procedures in Oncogeriatry.Surgical management is one of the most frequently used interventions in the treatment of many cancers, but it can be associated with a high risk of postoperative complications. The maintenance and optimization of functional abilities before, during and after treatment are major for elderly cancer patients, as it is now well established that there is a link between the level of functional capacity and the occurrence of these complications. The scientific literature shows that the benefits of pre- and post-operative training programs, but these benefits only apply to a fraction of the patients adhering to the programs. The modalities of intervention (training load, follow-up, etc.) as well as patient involvement in these programs are major issues that need to be addressed to optimize their benefits. Individualizing pre-habilitation, on the basis of the management of the training load, and therefore objective fatigue, would enable better patient adherence to the program, and optimize its benefits. In this context, the PRIMECHO project aims to individualize pre-habilitation in order to improve functional of patients in the pre-habilitation or accelerated recovery after surgery phase. The aim is for the patient to be in optimum physical condition at the time of the intervention or treatment. | Cancer | Non applicable | Traitement symptomatique | France | À vérifier |
Essais cliniques
12| Molécule | Indication / population | Phase | NCT | Titre | Statut |
|---|---|---|---|---|---|
| PRIMECHO — Preparation for Medical and Surgical Procedures in Oncogeriatry. | Cancer | Non applicable | NCT06443138 | PRIMECHO — Preparation for Medical and Surgical Procedures in Oncogeriatry. | RECRUITING |
| EARLY-MG — Evaluation of the Condition of Patients Receiving EARLY Ravulizumab and Admitted in ICU for gMG Crisis | Myasthénie | À vérifier | NCT07411963 | EARLY-MG — Evaluation of the Condition of Patients Receiving EARLY Ravulizumab and Admitted in ICU for gMG Crisis | RECRUITING |
| Efgartigimod | Myasthénie | Phase 4 | NCT07072988 | OPTIMAGE — Evaluate the Benefit of Corticoid Sparing in Elderly With Generalized AntiRAch Myasthenia Gravis Treated With IV or SC Efgartigimod | RECRUITING |
| INSIGHT FSHD2 — An 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease Progression | Myopathies | Non applicable | NCT06079567 | INSIGHT FSHD2 — An 18-month Prospective Natural History Study to Gain Insight Into FSHD2 Pathophysiology and Disease Progression | RECRUITING |
| CV4DIAGNOSIS — Computerized Facial Recognition for Automated Diagnosis of the Facio-Scapulo-Humeral Muscular Dystrophy (FSMHD) | Myopathies | Non applicable | NCT04377217 | CV4DIAGNOSIS — Computerized Facial Recognition for Automated Diagnosis of the Facio-Scapulo-Humeral Muscular Dystrophy (FSMHD) | COMPLETED |
| REAL MG PRO — Monitor the Evolution of Myasthenia Gravis Symptoms in Real-life in Patients With Anti-AChR and Anti-MUSK Generalised Myasthenia Gravis in Therapy With RYSTIGGO® (Roz | Myasthénie | À vérifier | NCT07570589 | REAL MG PRO — Monitor the Evolution of Myasthenia Gravis Symptoms in Real-life in Patients With Anti-AChR and Anti-MUSK Generalised Myasthenia Gravis in Therapy With RYSTIGGO® (Rozanolixizumab) | RECRUITING |
| MYAOUS — Sexual and Urinary Dysfunctions in Generalized Myasthenia | Myasthénie | À vérifier | NCT07677852 | MYAOUS — Sexual and Urinary Dysfunctions in Generalized Myasthenia | NOT_YET_RECRUITING |
| Amiloride | Migraine | Phase 2 | NCT04063540 | APAM — Acid-Sensing Ion Channel and Migraine Disease Proof of Concept Study on the Efficacy of Amiloride in the Prophylaxis of Migraine Aura | RECRUITING |
| Music Therapy | Alzheimer | NA | NCT04327778 | MAGE — Automate Music Therapy for the Management of Behavioral Disorders in Nursing Homes | WITHDRAWN |
| Teriflunomide | SEP | Phase 3 | NCT02587195 | TERICIS — A Study to Evaluate the Safety of Long Term Treatment With Teriflunomide 14 mg Once Daily in Patients With a First Clinical Episode Suggestive of Multiple Sclerosis in a Long-term Extension Period | COMPLETED |
| Ocrelizumab | SEP | Phase 3 | NCT05210621 | CONSONANCE EX — LONG-TERM EFFECTIVENESS AND SAFETY EVALUATION OF OCRELIZUMAB | ACTIVE_NOT_RECRUITING |
| test of walk | Myopathies | NA | NCT04694456 | Pro-inflammatory Cytokines in Facioscapulohumeral Muscular Dystrophy (CYTOKINE-FSH) | COMPLETED |
Publications
26| Molécule | Indication / population | Titre | Journal | Date |
|---|---|---|---|---|
| Amiloride | In silico characterisation of a novel SARS-CoV-2 envelope protein inhibitor and in vitro validation against murine coronavirus. | Bioorganic chemistry | ||
| Amiloride | Predictors of treatment response to mineralocorticoid receptor antagonists in primary aldosteronism: insights from the SPAIN-ALDO registry. | Journal of hypertension | ||
| Amiloride | A critical analysis on ENaC inhibitors, unravelling molecular medicinal insights and promising research roadmap in the treatment of cystic fibrosis. | European journal of medicinal chemistry | ||
| Manual muscular test | Biomechanics of manual wheeled propulsion in children and adolescents with neuromuscular disorders: A scoping review. | Clinical biomechanics (Bristol, Avon) | ||
| test of walk | Nigral biochemical and structural alterations following subacute exposure to MPTP in mice. | Toxicology reports | ||
| test of walk | A robotic perturbation trainer for transverse-plane gait perturbations in pediatric cerebral palsy. | MethodsX | ||
| Manual muscular test | From trunk and hip muscle function to class allocation: understanding the functional basis of wheelchair basketball classification. | Frontiers in sports and active living | ||
| test of walk | The Effect of Whole-Body Cryotherapy on Exercise Capacity of Healthy Training Men. | Journal of clinical medicine | ||
| test of walk | Precision and Error Propagation in Static MEMS-IMU Inertial Navigation: A Stochastic Time-Series Analysis. | Sensors (Basel, Switzerland) | ||
| test of walk | Feasibility of Real-Time Autonomous Functional Electrical Stimulation for Freezing of Gait. | The European journal of neuroscience | ||
| test of walk | A mobile learning environment: a preliminary study of a developmentally progressive modified ride-on car in infants with Down Syndrome. | Disability and rehabilitation. Assistive technology | ||
| test of walk | Does combining walked distance and oxygenation obtained during the six-minute walk test improve mortality prediction in interstitial lung disease? | Heart & lung : the journal of critical care | ||
| test of walk | Comparison of the Effects of Telerehabilitation-Based Motor and Cognitive Dual-Task Exercises in Patients With Parkinson's Disease-A Randomized Controlled Study. | Journal of aging and physical activity | ||
| test of walk | [Real-world testing of digital health: the INSPIRE Living Lab : An interdisciplinary clinical innovation platform]. | Orthopadie (Heidelberg, Germany) | ||
| test of walk | Central adiposity is associated with poorer functional capacity in women with knee osteoarthritis: a cross-sectional study with exploratory adjustment for pain intensity and radiographic severity. | Rheumatology international | ||
| test of walk | Effects of Pulmonary Rehabilitation Nursing on Pulmonary Function and Exercise Capacity in Patients With COPD: A Meta-Analysis. | Nursing in critical care | ||
| test of walk | Multimodal Integration of Gait, Balance, and Infrared Thermography Enhances Machine-Learning Classification of Knee Osteoarthritis: A Cross-Sectional Study. | Archives of physical medicine and rehabilitation | ||
| test of walk | A comparison of conservative versus surgical treatment in patients with foot drop due to peroneal nerve entrapment: results of a prematurely terminated randomized controlled trial. | Brain & spine | ||
| test of walk | The Impact of Exercise Tolerance Assessed by 6-Min Walking Distance on Clinical Outcomes in Patients With Interstitial Lung Disease Associated With Connective Tissue Diseases. | International journal of rheumatic diseases | ||
| test of walk | Pulmonary function and physical fitness in obese children and adolescents: a comparison of impulse oscillometry, spirometry, and 6-min walk test. | European journal of pediatrics | ||
| test of walk | Feasibility and behavioral impact of a wearable-supported digital health intervention on attitudes and behaviors toward sleep and physical activity: A proof-of-concept study in Kobe City. | Digital health | ||
| test of walk | Five-Year Outcomes of Paclitaxel-Coated Balloons in Patients with Diabetes from the BIOLUX P-III Single-Arm Study. | Vascular health and risk management | ||
| Manual muscular test | Gaming Technology in Pediatric Cerebral Palsy and Related Neuromuscular Conditions: A Scoping Review. | NeuroRehabilitation | ||
| Manual muscular test | Aquatic training improves muscle strength and functional mobility in adults with myotonic dystrophy type 1: a pilot randomized trial. | Neuromuscular disorders : NMD | ||
| test of walk | Yiqi Fumai Lyophilized Injection for Improving Exercise Tolerance in Chronic Heart Failure: Protocol for a Prospective Cohort Study. | JMIR research protocols | ||
| test of walk | The reliability and validity of the 30-second chair sit-to-stand test and the five-repetition sit-to-stand test in individuals following lumbar spinal surgery. | European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society |