Fiche société
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Traitements, essais et publications liés.
Traitements35programmes
Essais17liés
Publications20liées
SourceDBlocale
Traitements
35| Molécule | Indication / population | Phase | Objectif | Pays | Résultat |
|---|---|---|---|---|---|
| Adaptation of the Uniform Data Set for Telematic AdministrationThe present project is an evolution of the previous RIN 2019 study aimed at validating and standardizing the Uniform Data Set (UDS) for dementia, a battery of tests exploring various cognitive domains (memory, language, praxis, executive functions) and involving partial tablet-based computerization for data collection. In the present study, a UDS-based instrument that can be used in remote examiner-assisted telematic administration will be validated. This will be followed by standardization of the same on a sample of healthy subjects. | Alzheimer | Non applicable | À vérifier | Italy | À vérifier |
| Blood draw for the laboratory assessmentThe goal of this study is to assess the frequency of genetic polymorphisms of the FCG3A in a cohort of Italian patients affected by neuromyelitis optica spectrum disorder (NMOSD) and mog antibody associated disease (MOGAD) and in a a comparison group of patients affected with Multiple Sclerosis (MS). The study will involve adult patients diagnosed with MS, NMOSD, or MOGAD, followed at various clinical centers in the Lazio region. Patients from the participating clinical centers will be selected, and their medical records will be analyzed to collect clinical and neuroimaging data. The data will include demographic information such as age, sex and body mass index and clinical information such as age at disease onset, disease duration, antibody status (AQP4+/- and MOG+/-), disease-modifying therapies, as well as MRI data and the Expanded Disability Status Scale (EDSS) score. Each patient included in the study will undergo a single blood draw of approximately 5 ml of peripheral venous blood during routine blood tests, which will be used for DNA extraction and polimorphysm analysis. Demographic and clinical differences between patients with NMOSD and MOGAD, with and without the polymorphism, will be assessed and compared with the group of patients with MS. | SEP | Non applicable | Remyélinisation | Italy | À vérifier |
| Blood Exams, Fluid Biomarkers, GeneticsStudy is Interventional, cross-sectional, clinical trial without drug and without device | Alzheimer | Non applicable | À vérifier | Italy | À vérifier |
| blood samplingThis project aims to longitudinally profile plasma-derived GDEVs and plasma biomarkers of neuroinflammation across three stages of the AD continuum (Subjective Cognitive Decline, Mild Cognitive Impairment, and Alzheimer's Dementia), exploring their association with biomarkers of amyloidopathy, tauopathy and neurodegeneration, cognitive status and clinical outcome over time. Moreover, GDEVs - collected from subjects at different disease stages - will be used to treat human neurons derived from induced pluripotent stem cells (iPSCs) from healthy controls in order to assess the induced differential neurotoxic or priming effects. This dual translational approach may help identify early pathogenic signatures of neuroinflammation and elucidate their role in disease progression. | Alzheimer | Non applicable | Thérapie cellulaire + Ralentissement de la progression + Immunomodulation | Italy | À vérifier |
| CDK4/6 Inhibitor (Palbociclib, Ribociclib, Abemaciclib)Medulloblastoma (MB), a rare yet critical pediatric brain tumor, is divided into 4 molecular subgroups (WNT, SHH, Group 3, Group 4), each with distinct genetic profiles. Despite diagnostic and therapeutic advances, neurotoxicity from standard treatments (resection, radiotherapy, chemotherapy) and the need for long-term care remain challenges. CDK4/6 inhibitors (palbociclib, ribociclib, abemaciclib), approved for breast cancer, show potential in other tumors, but their efficacy in MB is unclear. Treatment resistance is a concern. This project aims to identify genetic markers of sensitivity to CDK4/6 inhibitors in MB, to improve therapies and overcome resistance. | Cancer | Phase 1 | À vérifier | Italy | À vérifier |
| Continuous theta burst stimulationThe primary endpoint of the study is to identify a neurophysiological biomarker (absence of synaptic depotentiation at primary motor cortex , measured as change in the amplitude of motor evoked potentials recorded at the dorsal first interosseus muscle after administration of neurophysiological cTBS depotentiation protocol) as predictor of the development of Levodopa-induced dyskinesia in patients with Parkinson's disease. | Parkinson | NA | À vérifier | Italy | À vérifier |
| CONTRASTOME — Human Amniotic Mesenchymal Cell Secretome for Neurodegeneration and NeuroinflammationNeurodegenerative diseases are debilitating conditions characterized by chronic inflammation, leading to dysfunction of both the non-neuronal cellular components of the central nervous system and peripheral blood immune cells. Thus, it is crucial to develop an innovative therapeutic strategy that not only effectively contrast neurodegeneration but also aims to reduce inflammation. The overall aim of the study is to provide a preclinical in vitro demonstration of the immunomodulatory and pro-regenerative potential of the human amniotic mesenchymal stromal cell (hAMSC) secretome in counteracting neurodegeneration. This potential will be evaluated in three-dimensional in vitro models of neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and chronic demyelinating disease (multiple sclerosis - MS). To this end, the study includes sample collection from patients without pharmacological treatment and without medical devices. Patients diagnosed with ALS, patients diagnosed with MS, and healthy volunteers will be recruited to collect blood samples and skin biopsies. Patient-specific and control organoid platforms, mimicking cellular heterogeneity and tridimensional interactions within the central nervous system including the inflammatory compartment, will be developed to be used as a valuable tool to investigate the in vitro efficacy of the hAMSC secretome. | Sclérose latérale amyotrophique, SEP | Non applicable | Immunomodulation + Thérapie cellulaire | Italy | À vérifier |
| Deep brain stimulation surgeryThe aim of the study is to characterize the neuroinflammatory effects of subthalamic deep brain stimulation in patients with Parkinson's disease, by analyzing changes in blood neuroinflammatory and neurodegenerative biomarkers before and after surgery (at 6 and 12 months, respectively), and comparing the changes in blood biomarkers levels with a control group of patients with advanced PD on best medical treatment. | Parkinson | À vérifier | Immunomodulation | À vérifier | |
| Early Myofascial Manual Treatment in Subjects With Spasticity Following Acquired Brain InjurySpasticity is characterized by an increase in muscle tone that is velocity-dependent and caused by the exaggeration of the stretch reflex. Clinically, it is found in 70-85% of patients with spinal cord injury at one year, 40-45% in patients with stroke at 12 months, and 25% in patients with traumatic brain injury at one year. The term 'Severe Acquired Brain Injury' refers to a condition characterized by brain damage that causes a coma with an acute phase score of 8 on the Glasgow Coma Scale (GCS), lasting more than 24 hours. It may be caused by vascular, traumatic, anoxic, infectious, toxic-metabolic, or neoplastic damage, which can cause multiple and complex sensory, cognitive, and behavioral impairments that lead to significant disability. Spasticity occurs frequently in patients with GCA, often at an early stage, with serious repercussions on the rehabilitation process and outcome. Numerous studies indicate that spasticity due to neurological damage is supported, in addition to hyperexcitable stretch reflexes, by changes in the connective tissues of the peripheral limbs that increase muscle resistance to passive movement. After neurological damage, and starting 1 week after immobilization, alterations in the muscles and connective tissue can be observed: changes in the muscle fibers, changes in the collagen tissue, and changes in the properties of the tendons. It is believed that the quantitative and qualitative changes in the intramuscular connective tissue contribute to the deterioration of the properties and functions of the immobilized muscle, which contributes to the establishment and progression of spasticity. In patients with spastic paresis, therapeutic interventions are intended to prevent prolonged shortening of the muscles and mobilize the affected areas. According to recent research, the connective tissue is particularly sensitive to mechanical stress, particularly deep manual manipulation and vibration. Several studies have suggested that myofascial release therapy can be a complementary treatment in patients with neurological disorders to reduce muscle spasticity and increase joint mobility. Myofascial release techniques can be hypothesized to be a valid integrated treatment for spasticity in patients with sequelae from GCA, but their use in this area has been little studied and no studies have been conducted in the post-acute period of intensive hospitalization. The purpose of the present study is to determine whether manual myofascial release techniques, applied to the upper and lower limbs, are safe, tolerable, and effective in modifying the degree of spasticity and improving functional activity in patients with GCA. Additionally, changes in muscle structure will be evaluated by ultrasound: cross-sectional area, anteroposterior diameter, and pennation angle. Finally, we will measure the effects of manual myofascial treatment stimulation by measuring electrodermal activity (EDA), which is a non-invasive method in which an electrode bracelet is applied to the patient's right wrist to measure the electrical conductance of the skin, which is a function of the autonomic nervous system, which is controlled by the sweat glands. Various sensory stimulations, including visual, auditory, olfactory, tactile, vestibular, and proprioceptive stimulations, can produce a physical sensation that can influence the patient's sensorimotor output, resulting in physiological changes in the activity of the ANS as a consequence of the processing of sensory afferents. A response to an appropriate sensory stimulus can be regarded as a manifestation of a change in consciousness. | Myopathies | NA | Traitement symptomatique + Ralentissement de la progression | Italy | À vérifier |
| EligenceStudy is Interventional, cross-sectional, clinical trial without drug and without device | Alzheimer | Non applicable | À vérifier | Italy | À vérifier |
| Focal Muscular Vibration using the EVM EVO medical device (Endomedica, Italy)Severe acquired brain injury (sABI) is a group of disorders that cause long-term disability. Rehabilitation is essential to counteract bed immobilization, muscle failure, pain, and sensory deficits that can affect the clinical and rehabilitation pathway of these patients. Focal muscle vibration (FMV) is a tool that uses low-amplitude, high-frequency vibrations that when applied to muscle-tendon units. This technique, administered at specific frequencies, amplitudes and durations, can generate action potentials of the same frequency as the stimulus applied to the muscle or tendon. This makes it possible to activate selected afferent fibers and stimulate targeted brain areas with persistent effects over time (long-term potentiation). Regarding the effect of counteracting vibration spasticity, FMV is able to inhibit the reflex arc and induce reciprocal inhibition of functional agonist muscle. In addition, the strong proprioceptive stimulus generated by vibration is able to reach the primary motor and somatosensory cortex, enhancing cortical mechanisms that regulate co-contraction between agonist and antagonist muscles, thereby reducing muscle tone and joint stiffness. In many studies, this technique has been shown to be effective in reducing pain and joint stiffness by improving muscle contraction and motor control. | Myopathies | NA | Traitement symptomatique | Italy | À vérifier |
| HealthentiaStudy is Interventional, cross-sectional, clinical trial without drug and without device | Alzheimer | Non applicable | À vérifier | Italy | À vérifier |
| MOGHEAD — Headache Prevalence and Phenotype in Myelin Oligodendrocyte Glycoprotein Antibody -Associated Disease (MOGAD)Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) is an inflammatory demyelinating disorder of the central nervous system characterized by antibodies targeting myelin oligodendrocyte glycoprotein (MOG). Although the disease most commonly presents with optic neuritis, myelitis, or acute disseminated encephalomyelitis, headache has increasingly been reported as a potentially relevant and disabling symptom. However, the prevalence and clinical characteristics of headache in MOGAD remain poorly defined. The purpose of this monocentric ambispective observational study is to evaluate the prevalence and clinical phenotype of headache in adult patients with MOGAD. The study aims to answer the following research questions: How common is headache in patients with MOGAD, what are its clinical characteristics, and does it show any correlation with any specific disease features? The primary objective is to estimate the prevalence of acute and/or chronic headache in patients with MOGAD. Secondary objectives include describing headache characteristics (location, duration, intensity, associated symptoms, and response to treatment), assessing the presence and evolution of pre-existing primary headache disorders, and exploring potential associations between headache and laboratory or neuroradiological findings, including anti-MOG antibody titers, cerebrospinal fluid (CSF) oligoclonal bands, and the location of inflammatory or demyelinating lesions on MRI. Approximately 25 adult patients with MOGAD followed at the Multiple Sclerosis Center and Headache Clinic of the Fondazione Policlinico A. Gemelli IRCCS will be included. Clinical, laboratory, and neuroradiological data will be collected retrospectively and prospectively from medical records. | SEP | À vérifier | Remyélinisation | À vérifier | |
| Physical ActivityStudy is Interventional, cross-sectional, clinical trial without drug and without device | Alzheimer | Non applicable | À vérifier | Italy | À vérifier |
| Proteomic Changes in Patients With Myasthenia Gravis and RavulizumabMyasthenia gravis (MG) is an autoimmune neuromuscular disorder primarily caused by antibodies targeting postsynaptic components of the neuromuscular junction, most commonly the acetylcholine receptor (AChR). In AChR-positive generalized MG, IgG1 and IgG3 antibodies activate the classical complement pathway, leading to membrane attack complex-mediated damage of the postsynaptic membrane and impaired neuromuscular transmission. Complement inhibition has therefore emerged as an effective therapeutic strategy. Ravulizumab, a long-acting monoclonal antibody targeting complement component C5, has demonstrated clinical efficacy in reducing disease severity in patients with AChR-positive generalized MG. However, clinical responses to complement inhibition remain heterogeneous, and reliable biomarkers to monitor treatment response and neuromuscular junction recovery are currently lacking. Blood-based proteomics represents a powerful approach for identifying molecular changes associated with disease activity and treatment response. In particular, aptamer-based proteomic platforms such as the SomaScan® assay allow high-throughput, highly sensitive quantification of thousands of circulating proteins from small volumes of plasma or serum. The primary aim of this study is to identify proteomic changes in patients with generalized MG treated with Ravulizumab, with a specific focus on proteins involved in neuromuscular junction regeneration and repair. By leveraging advanced proteomic technologies in a real-world clinical setting, this study seeks to identify biomarkers that may help monitor treatment response, guide optimization of concomitant immunosuppressive therapies, and improve patient stratification. Ultimately, the identification of molecular pathways associated with neuromuscular junction regeneration may open new therapeutic perspectives for autoimmune neuromuscular disorders. | Myasthénie | À vérifier | Italy | À vérifier | |
| Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small MutationsImproved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of Duchenne muscular dystrophy (DMD), affecting both survival and time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutic approaches based on mechanisms targeting specific types of mutation, as Atarulen, authorised in the European Union as Translarna since 31 July 2014 to treat DMD boys with non sense mutations. As there is increasing evidence that specific groups of mutations may have different progression of the disease, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. Natural history of DMD boys carrying deletions has been more studied and less is known about boys carrying small mutations that represent 20% of DMD patients. The aim of this project is to better define the natural history of these patients and to better understand the clinical response to mutation-specific therapies aimed at restoring dystrophin protein production. | Myopathies | À vérifier | Ralentissement de la progression | Italy | À vérifier |
| SudoscanProspective interventional study with a device for comparing autonomic parameters among patients with different forms of cognitive decline | Alzheimer | Non applicable | À vérifier | Italy | À vérifier |
| Tear Biomarkers for MigraineThe goal of this observational monocentric study is to investigate tear and serum biomarkers in patients with migraine compared with healthy controls, and to explore their potential diagnostic, clinical, and predictive value. In addition to the cross-sectional evaluation, a longitudinal subgroup analysis will be conducted to assess biomarker changes over time during treatment with anti- Calcitonin Gene-Related Peptide (anti-CGRP) therapies. | Migraine | À vérifier | À vérifier | À vérifier | |
| TEMBO-DS — Biomarkers of Neurodegeneration, Synaptic Plasticity and Neuroinflammation in Dravet SyndromeDravet syndrome (DS) is a developmental and epileptic encephalopathy, usually caused by de novo pathogenic SCN1A variants, characterized by early-onset prolonged febrile seizures, subsequent drug-resistant polymorphic epilepsy, developmental impairment, and, in some patients, progressive motor, cognitive and behavioral decline. Despite the expanding therapeutic landscape, objective biomarkers for disease stratification, monitoring and treatment response are lacking. Blood-based markers of neurodegeneration, synaptic plasticity and neuroinflammation are promising candidates because they are minimally invasive and may capture biological processes involved in disease progression. TEMBO-DS is a prospective multicenter observational pilot study enrolling 60 individuals with DS and 30 age- and sex-matched healthy controls. DS participants will carry pathogenic or likely pathogenic SCN1A variants and fulfill ILAE clinical criteria, with no age limits. Individuals with epileptic spasms, SCN1A gain-of-function encephalopathy, structural causes of epilepsy, or systemic, oncological, autoimmune or neurodegenerative conditions potentially affecting biomarker levels will be excluded. At baseline, demographic and clinical variables will be collected, including age at seizure onset, seizure type and frequency, status epilepticus, SCN1A variant type, cognitive, motor, behavioral and sleep profiles, comorbidities and ongoing treatments. Blood samples obtained during routine clinical sampling will be analyzed for biomarkers of neurodegeneration and glial injury (NfL, GFAP, tau-related markers), synaptic plasticity (BDNF) and neuroinflammation. In a subgroup of DS participants, clinical assessment and blood sampling will be repeated after approximately 12 months. The study will assess whether biomarker levels differ between DS and controls and whether they correlate with clinically relevant measures of disease severity and longitudinal change. Particular emphasis will be placed on the relationship between NfL and Vineland adaptive functioning, including their changes over 12 months and the effect of treatment modifications. Group comparisons, correlation analyses and longitudinal mixed-effects models will be used, with adjustment for relevant covariates and multiple testing. The study is expected to identify one or more blood-based biomarkers, or biomarker combinations, associated with DS, disease severity and clinical evolution. These findings may provide objective measures for future natural-history studies and therapeutic trials, including the assessment of non-seizure outcomes. | Épilepsie | À vérifier | Immunomodulation + Ralentissement de la progression | Italy | À vérifier |
| Continuous theta burst stimulationThe primary endpoint of the study is to identify a neurophysiological biomarker (absence of synaptic depotentiation at primary motor cortex , measured as change in the amplitude of motor evoked potentials recorded at the dorsal first interosseus muscle after administration of neurophysiological cTBS depotentiation protocol) as predictor of the development of Levodopa-induced dyskinesia in patients with Parkinson's disease. | Parkinson | NA | À vérifier | Italy | À vérifier |
| Early Myofascial Manual Treatment in Subjects With Spasticity Following Acquired Brain InjurySpasticity is characterized by an increase in muscle tone that is velocity-dependent and caused by the exaggeration of the stretch reflex. Clinically, it is found in 70-85% of patients with spinal cord injury at one year, 40-45% in patients with stroke at 12 months, and 25% in patients with traumatic brain injury at one year. The term 'Severe Acquired Brain Injury' refers to a condition characterized by brain damage that causes a coma with an acute phase score of 8 on the Glasgow Coma Scale (GCS), lasting more than 24 hours. It may be caused by vascular, traumatic, anoxic, infectious, toxic-metabolic, or neoplastic damage, which can cause multiple and complex sensory, cognitive, and behavioral impairments that lead to significant disability. Spasticity occurs frequently in patients with GCA, often at an early stage, with serious repercussions on the rehabilitation process and outcome. Numerous studies indicate that spasticity due to neurological damage is supported, in addition to hyperexcitable stretch reflexes, by changes in the connective tissues of the peripheral limbs that increase muscle resistance to passive movement. After neurological damage, and starting 1 week after immobilization, alterations in the muscles and connective tissue can be observed: changes in the muscle fibers, changes in the collagen tissue, and changes in the properties of the tendons. It is believed that the quantitative and qualitative changes in the intramuscular connective tissue contribute to the deterioration of the properties and functions of the immobilized muscle, which contributes to the establishment and progression of spasticity. In patients with spastic paresis, therapeutic interventions are intended to prevent prolonged shortening of the muscles and mobilize the affected areas. According to recent research, the connective tissue is particularly sensitive to mechanical stress, particularly deep manual manipulation and vibration. Several studies have suggested that myofascial release therapy can be a complementary treatment in patients with neurological disorders to reduce muscle spasticity and increase joint mobility. Myofascial release techniques can be hypothesized to be a valid integrated treatment for spasticity in patients with sequelae from GCA, but their use in this area has been little studied and no studies have been conducted in the post-acute period of intensive hospitalization. The purpose of the present study is to determine whether manual myofascial release techniques, applied to the upper and lower limbs, are safe, tolerable, and effective in modifying the degree of spasticity and improving functional activity in patients with GCA. Additionally, changes in muscle structure will be evaluated by ultrasound: cross-sectional area, anteroposterior diameter, and pennation angle. Finally, we will measure the effects of manual myofascial treatment stimulation by measuring electrodermal activity (EDA), which is a non-invasive method in which an electrode bracelet is applied to the patient's right wrist to measure the electrical conductance of the skin, which is a function of the autonomic nervous system, which is controlled by the sweat glands. Various sensory stimulations, including visual, auditory, olfactory, tactile, vestibular, and proprioceptive stimulations, can produce a physical sensation that can influence the patient's sensorimotor output, resulting in physiological changes in the activity of the ANS as a consequence of the processing of sensory afferents. A response to an appropriate sensory stimulus can be regarded as a manifestation of a change in consciousness. | Myopathies | NA | Traitement symptomatique + Ralentissement de la progression | Italy | À vérifier |
| Proteomic Changes in Patients With Myasthenia Gravis and RavulizumabMyasthenia gravis (MG) is an autoimmune neuromuscular disorder primarily caused by antibodies targeting postsynaptic components of the neuromuscular junction, most commonly the acetylcholine receptor (AChR). In AChR-positive generalized MG, IgG1 and IgG3 antibodies activate the classical complement pathway, leading to membrane attack complex-mediated damage of the postsynaptic membrane and impaired neuromuscular transmission. Complement inhibition has therefore emerged as an effective therapeutic strategy. Ravulizumab, a long-acting monoclonal antibody targeting complement component C5, has demonstrated clinical efficacy in reducing disease severity in patients with AChR-positive generalized MG. However, clinical responses to complement inhibition remain heterogeneous, and reliable biomarkers to monitor treatment response and neuromuscular junction recovery are currently lacking. Blood-based proteomics represents a powerful approach for identifying molecular changes associated with disease activity and treatment response. In particular, aptamer-based proteomic platforms such as the SomaScan® assay allow high-throughput, highly sensitive quantification of thousands of circulating proteins from small volumes of plasma or serum. The primary aim of this study is to identify proteomic changes in patients with generalized MG treated with Ravulizumab, with a specific focus on proteins involved in neuromuscular junction regeneration and repair. By leveraging advanced proteomic technologies in a real-world clinical setting, this study seeks to identify biomarkers that may help monitor treatment response, guide optimization of concomitant immunosuppressive therapies, and improve patient stratification. Ultimately, the identification of molecular pathways associated with neuromuscular junction regeneration may open new therapeutic perspectives for autoimmune neuromuscular disorders. | Myasthénie | À vérifier | Italy | À vérifier | |
| Deep brain stimulation surgeryThe aim of the study is to characterize the neuroinflammatory effects of subthalamic deep brain stimulation in patients with Parkinson's disease, by analyzing changes in blood neuroinflammatory and neurodegenerative biomarkers before and after surgery (at 6 and 12 months, respectively), and comparing the changes in blood biomarkers levels with a control group of patients with advanced PD on best medical treatment. | Parkinson | À vérifier | Immunomodulation | À vérifier | |
| Focal Muscular Vibration using the EVM EVO medical device (Endomedica, Italy)Severe acquired brain injury (sABI) is a group of disorders that cause long-term disability. Rehabilitation is essential to counteract bed immobilization, muscle failure, pain, and sensory deficits that can affect the clinical and rehabilitation pathway of these patients. Focal muscle vibration (FMV) is a tool that uses low-amplitude, high-frequency vibrations that when applied to muscle-tendon units. This technique, administered at specific frequencies, amplitudes and durations, can generate action potentials of the same frequency as the stimulus applied to the muscle or tendon. This makes it possible to activate selected afferent fibers and stimulate targeted brain areas with persistent effects over time (long-term potentiation). Regarding the effect of counteracting vibration spasticity, FMV is able to inhibit the reflex arc and induce reciprocal inhibition of functional agonist muscle. In addition, the strong proprioceptive stimulus generated by vibration is able to reach the primary motor and somatosensory cortex, enhancing cortical mechanisms that regulate co-contraction between agonist and antagonist muscles, thereby reducing muscle tone and joint stiffness. In many studies, this technique has been shown to be effective in reducing pain and joint stiffness by improving muscle contraction and motor control. | Myopathies | NA | Traitement symptomatique | Italy | À vérifier |
| Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small MutationsImproved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of Duchenne muscular dystrophy (DMD), affecting both survival and time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutic approaches based on mechanisms targeting specific types of mutation, as Atarulen, authorised in the European Union as Translarna since 31 July 2014 to treat DMD boys with non sense mutations. As there is increasing evidence that specific groups of mutations may have different progression of the disease, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. Natural history of DMD boys carrying deletions has been more studied and less is known about boys carrying small mutations that represent 20% of DMD patients. The aim of this project is to better define the natural history of these patients and to better understand the clinical response to mutation-specific therapies aimed at restoring dystrophin protein production. | Myopathies | À vérifier | Ralentissement de la progression | Italy | À vérifier |
| Tear Biomarkers for MigraineThe goal of this observational monocentric study is to investigate tear and serum biomarkers in patients with migraine compared with healthy controls, and to explore their potential diagnostic, clinical, and predictive value. In addition to the cross-sectional evaluation, a longitudinal subgroup analysis will be conducted to assess biomarker changes over time during treatment with anti- Calcitonin Gene-Related Peptide (anti-CGRP) therapies. | Migraine | À vérifier | À vérifier | À vérifier | |
| MOGHEAD — Headache Prevalence and Phenotype in Myelin Oligodendrocyte Glycoprotein Antibody -Associated Disease (MOGAD)Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) is an inflammatory demyelinating disorder of the central nervous system characterized by antibodies targeting myelin oligodendrocyte glycoprotein (MOG). Although the disease most commonly presents with optic neuritis, myelitis, or acute disseminated encephalomyelitis, headache has increasingly been reported as a potentially relevant and disabling symptom. However, the prevalence and clinical characteristics of headache in MOGAD remain poorly defined. The purpose of this monocentric ambispective observational study is to evaluate the prevalence and clinical phenotype of headache in adult patients with MOGAD. The study aims to answer the following research questions: How common is headache in patients with MOGAD, what are its clinical characteristics, and does it show any correlation with any specific disease features? The primary objective is to estimate the prevalence of acute and/or chronic headache in patients with MOGAD. Secondary objectives include describing headache characteristics (location, duration, intensity, associated symptoms, and response to treatment), assessing the presence and evolution of pre-existing primary headache disorders, and exploring potential associations between headache and laboratory or neuroradiological findings, including anti-MOG antibody titers, cerebrospinal fluid (CSF) oligoclonal bands, and the location of inflammatory or demyelinating lesions on MRI. Approximately 25 adult patients with MOGAD followed at the Multiple Sclerosis Center and Headache Clinic of the Fondazione Policlinico A. Gemelli IRCCS will be included. Clinical, laboratory, and neuroradiological data will be collected retrospectively and prospectively from medical records. | SEP | À vérifier | Remyélinisation | À vérifier | |
| CONTRASTOME — Human Amniotic Mesenchymal Cell Secretome for Neurodegeneration and NeuroinflammationNeurodegenerative diseases are debilitating conditions characterized by chronic inflammation, leading to dysfunction of both the non-neuronal cellular components of the central nervous system and peripheral blood immune cells. Thus, it is crucial to develop an innovative therapeutic strategy that not only effectively contrast neurodegeneration but also aims to reduce inflammation. The overall aim of the study is to provide a preclinical in vitro demonstration of the immunomodulatory and pro-regenerative potential of the human amniotic mesenchymal stromal cell (hAMSC) secretome in counteracting neurodegeneration. This potential will be evaluated in three-dimensional in vitro models of neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and chronic demyelinating disease (multiple sclerosis - MS). To this end, the study includes sample collection from patients without pharmacological treatment and without medical devices. Patients diagnosed with ALS, patients diagnosed with MS, and healthy volunteers will be recruited to collect blood samples and skin biopsies. Patient-specific and control organoid platforms, mimicking cellular heterogeneity and tridimensional interactions within the central nervous system including the inflammatory compartment, will be developed to be used as a valuable tool to investigate the in vitro efficacy of the hAMSC secretome. | Sclérose latérale amyotrophique | Non applicable | Immunomodulation + Thérapie cellulaire | Italy | À vérifier |
| Blood draw for the laboratory assessmentThe goal of this study is to assess the frequency of genetic polymorphisms of the FCG3A in a cohort of Italian patients affected by neuromyelitis optica spectrum disorder (NMOSD) and mog antibody associated disease (MOGAD) and in a a comparison group of patients affected with Multiple Sclerosis (MS). The study will involve adult patients diagnosed with MS, NMOSD, or MOGAD, followed at various clinical centers in the Lazio region. Patients from the participating clinical centers will be selected, and their medical records will be analyzed to collect clinical and neuroimaging data. The data will include demographic information such as age, sex and body mass index and clinical information such as age at disease onset, disease duration, antibody status (AQP4+/- and MOG+/-), disease-modifying therapies, as well as MRI data and the Expanded Disability Status Scale (EDSS) score. Each patient included in the study will undergo a single blood draw of approximately 5 ml of peripheral venous blood during routine blood tests, which will be used for DNA extraction and polimorphysm analysis. Demographic and clinical differences between patients with NMOSD and MOGAD, with and without the polymorphism, will be assessed and compared with the group of patients with MS. | SEP | Non applicable | Remyélinisation | Italy | À vérifier |
| blood samplingThis project aims to longitudinally profile plasma-derived GDEVs and plasma biomarkers of neuroinflammation across three stages of the AD continuum (Subjective Cognitive Decline, Mild Cognitive Impairment, and Alzheimer's Dementia), exploring their association with biomarkers of amyloidopathy, tauopathy and neurodegeneration, cognitive status and clinical outcome over time. Moreover, GDEVs - collected from subjects at different disease stages - will be used to treat human neurons derived from induced pluripotent stem cells (iPSCs) from healthy controls in order to assess the induced differential neurotoxic or priming effects. This dual translational approach may help identify early pathogenic signatures of neuroinflammation and elucidate their role in disease progression. | Alzheimer | Non applicable | Thérapie cellulaire + Ralentissement de la progression + Immunomodulation | Italy | À vérifier |
| Blood Exams, Fluid Biomarkers, GeneticsStudy is Interventional, cross-sectional, clinical trial without drug and without device | Alzheimer | Non applicable | À vérifier | Italy | À vérifier |
| SudoscanProspective interventional study with a device for comparing autonomic parameters among patients with different forms of cognitive decline | Alzheimer | Non applicable | À vérifier | Italy | À vérifier |
| Adaptation of the Uniform Data Set for Telematic AdministrationThe present project is an evolution of the previous RIN 2019 study aimed at validating and standardizing the Uniform Data Set (UDS) for dementia, a battery of tests exploring various cognitive domains (memory, language, praxis, executive functions) and involving partial tablet-based computerization for data collection. In the present study, a UDS-based instrument that can be used in remote examiner-assisted telematic administration will be validated. This will be followed by standardization of the same on a sample of healthy subjects. | Alzheimer | Non applicable | À vérifier | Italy | À vérifier |
| TEMBO-DS — Biomarkers of Neurodegeneration, Synaptic Plasticity and Neuroinflammation in Dravet SyndromeDravet syndrome (DS) is a developmental and epileptic encephalopathy, usually caused by de novo pathogenic SCN1A variants, characterized by early-onset prolonged febrile seizures, subsequent drug-resistant polymorphic epilepsy, developmental impairment, and, in some patients, progressive motor, cognitive and behavioral decline. Despite the expanding therapeutic landscape, objective biomarkers for disease stratification, monitoring and treatment response are lacking. Blood-based markers of neurodegeneration, synaptic plasticity and neuroinflammation are promising candidates because they are minimally invasive and may capture biological processes involved in disease progression. TEMBO-DS is a prospective multicenter observational pilot study enrolling 60 individuals with DS and 30 age- and sex-matched healthy controls. DS participants will carry pathogenic or likely pathogenic SCN1A variants and fulfill ILAE clinical criteria, with no age limits. Individuals with epileptic spasms, SCN1A gain-of-function encephalopathy, structural causes of epilepsy, or systemic, oncological, autoimmune or neurodegenerative conditions potentially affecting biomarker levels will be excluded. At baseline, demographic and clinical variables will be collected, including age at seizure onset, seizure type and frequency, status epilepticus, SCN1A variant type, cognitive, motor, behavioral and sleep profiles, comorbidities and ongoing treatments. Blood samples obtained during routine clinical sampling will be analyzed for biomarkers of neurodegeneration and glial injury (NfL, GFAP, tau-related markers), synaptic plasticity (BDNF) and neuroinflammation. In a subgroup of DS participants, clinical assessment and blood sampling will be repeated after approximately 12 months. The study will assess whether biomarker levels differ between DS and controls and whether they correlate with clinically relevant measures of disease severity and longitudinal change. Particular emphasis will be placed on the relationship between NfL and Vineland adaptive functioning, including their changes over 12 months and the effect of treatment modifications. Group comparisons, correlation analyses and longitudinal mixed-effects models will be used, with adjustment for relevant covariates and multiple testing. The study is expected to identify one or more blood-based biomarkers, or biomarker combinations, associated with DS, disease severity and clinical evolution. These findings may provide objective measures for future natural-history studies and therapeutic trials, including the assessment of non-seizure outcomes. | Épilepsie | À vérifier | Immunomodulation + Ralentissement de la progression | Italy | À vérifier |
| CDK4/6 Inhibitor (Palbociclib, Ribociclib, Abemaciclib)Medulloblastoma (MB), a rare yet critical pediatric brain tumor, is divided into 4 molecular subgroups (WNT, SHH, Group 3, Group 4), each with distinct genetic profiles. Despite diagnostic and therapeutic advances, neurotoxicity from standard treatments (resection, radiotherapy, chemotherapy) and the need for long-term care remain challenges. CDK4/6 inhibitors (palbociclib, ribociclib, abemaciclib), approved for breast cancer, show potential in other tumors, but their efficacy in MB is unclear. Treatment resistance is a concern. This project aims to identify genetic markers of sensitivity to CDK4/6 inhibitors in MB, to improve therapies and overcome resistance. | Cancer | Phase 1 | À vérifier | Italy | À vérifier |
Essais cliniques
17| Molécule | Indication / population | Phase | NCT | Titre | Statut |
|---|---|---|---|---|---|
| CDK4/6 Inhibitor (Palbociclib, Ribociclib, Abemaciclib) | Cancer | Phase 1 | NCT06959979 | Novel Molecular Targets and Innovative Therapeutic Perspective in Medulloblastoma | RECRUITING |
| TEMBO-DS — Biomarkers of Neurodegeneration, Synaptic Plasticity and Neuroinflammation in Dravet Syndrome | Épilepsie | À vérifier | NCT07801404 | TEMBO-DS — Biomarkers of Neurodegeneration, Synaptic Plasticity and Neuroinflammation in Dravet Syndrome | NOT_YET_RECRUITING |
| Adaptation of the Uniform Data Set for Telematic Administration | Alzheimer | Non applicable | NCT05785910 | Adaptation of the Uniform Data Set for Telematic Administration | COMPLETED |
| Sudoscan | Alzheimer | Non applicable | NCT06292741 | Autonomic Involvement in Patient With Cognitive Decline | RECRUITING |
| Blood Exams, Fluid Biomarkers, Genetics | Alzheimer | Non applicable | NCT06896201 | Comfortage-P4 — Comfortage - AD Prevention Strategies | ACTIVE_NOT_RECRUITING |
| blood sampling | Alzheimer | Non applicable | NCT07803055 | GLEVAD — Longitudinal Profiling of Plasma-Derived Glial Extracellular Vesicles in Alzheimer's Disease | RECRUITING |
| Blood draw for the laboratory assessment | SEP | Non applicable | NCT06865274 | PoGe — Frequency of FCGR3A Gene Polymorphisms in Patients With Neuromyelitis Optica Spectrum Disorders, Anti-oligodendrocyte Myelin Protein Antibody Disease, and Multiple Sclerosis. | RECRUITING |
| CONTRASTOME — Human Amniotic Mesenchymal Cell Secretome for Neurodegeneration and Neuroinflammation | Sclérose latérale amyotrophique | Non applicable | NCT06551649 | CONTRASTOME — Human Amniotic Mesenchymal Cell Secretome for Neurodegeneration and Neuroinflammation | ACTIVE_NOT_RECRUITING |
| MOGHEAD — Headache Prevalence and Phenotype in Myelin Oligodendrocyte Glycoprotein Antibody -Associated Disease (MOGAD) | SEP | À vérifier | NCT07479212 | MOGHEAD — Headache Prevalence and Phenotype in Myelin Oligodendrocyte Glycoprotein Antibody -Associated Disease (MOGAD) | NOT_YET_RECRUITING |
| Tear Biomarkers for Migraine | Migraine | À vérifier | NCT07690696 | Tear Biomarkers for Migraine | NOT_YET_RECRUITING |
| Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small Mutations | Myopathies | À vérifier | NCT05833633 | Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small Mutations | COMPLETED |
| Focal Muscular Vibration using the EVM EVO medical device (Endomedica, Italy) | Myopathies | NA | NCT05464160 | Focal Muscular Vibration in Patients with Severe Acquired Brain Injury | COMPLETED |
| Deep brain stimulation surgery | Parkinson | À vérifier | NCT07673783 | BRAIN-DBS-GAIN — Outlining Biological Effects of Subthalamic Deep Brain Stimulation in Parkinson's Disease Patients. | NOT_YET_RECRUITING |
| Proteomic Changes in Patients With Myasthenia Gravis and Ravulizumab | Myasthénie | À vérifier | NCT07337395 | Proteomic Changes in Patients With Myasthenia Gravis and Ravulizumab | NOT_YET_RECRUITING |
| Rituximab | Myasthénie | Phase 3 | NCT05868837 | Rituximab EfFicacy IN MyasthEnia Gravis (REFINE) | RECRUITING |
| Early Myofascial Manual Treatment in Subjects With Spasticity Following Acquired Brain Injury | Myopathies | NA | NCT06898242 | Early Myofascial Manual Treatment in Subjects With Spasticity Following Acquired Brain Injury | ACTIVE_NOT_RECRUITING |
| Continuous theta burst stimulation | Parkinson | NA | NCT05795088 | Continuous Theta Burst Stimulation as Potential Biomarker of Levodopa-induced Dyskinesias in Parkinson's Disease | UNKNOWN |
Publications
20| Molécule | Indication / population | Titre | Journal | Date |
|---|---|---|---|---|
| Tear Biomarkers for Migraine | The ocular surface tear film as a biomarker for systemic health. | The ocular surface | ||
| Tear Biomarkers for Migraine | Botulinum toxin effects on biochemical biomarkers related to inflammation-associated head and neck chronic conditions: a systematic review of clinical research. | Journal of neural transmission (Vienna, Austria : 1996) | ||
| Deep brain stimulation surgery | Implantation of autologous peripheral nerve tissue to the nucleus basalis of Meynert in patients with Parkinson's disease during deep brain stimulation surgery: a 2-year report of safety, feasibility, and clinical response. | Journal of neurosurgery | ||
| Deep brain stimulation surgery | Cortical-Subthalamic Interplay During Eyes-Open and Eyes-Closed Resting States in Parkinson's Disease Patients. | International journal of neural systems | ||
| Deep brain stimulation surgery | An alternative scalp incision for deep brain stimulation surgery: A long term follow-up study. | Clinical neurology and neurosurgery | ||
| Continuous theta burst stimulation | TMS to preSMA, but not rIFG, impacts strategy use in multi-attribute choice. | Neuropsychologia | ||
| Continuous theta burst stimulation | Combined continuous theta burst transcranial ultrasound and magnetic stimulation for induction of cortical plasticity. | NeuroImage | ||
| Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small Mutations | Spectrum of DMD gene mutations in 507 patients: a retrospective genotype-phenotype study using next-generation sequencing. | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie | ||
| Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small Mutations | Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications. | Clinical chemistry | ||
| Continuous theta burst stimulation | Continuous theta burst stimulation delays L-DOPA-induced dyskinesia progression and ameliorates orolingual dyskinesia with concomitant reduction of striatal FosB/ΔFosB and neuroinflammation. | Brain research bulletin | ||
| Deep brain stimulation surgery | Decoding pre-movement neural activity from thalamic LFPs for adaptive neurostimulation in tremor patients. | Neurocomputing | ||
| Deep brain stimulation surgery | Full recovery after severe bacterial encephalitis and brain abscess following deep brain stimulation surgery for Parkinson's disease. | Journal of Parkinson's disease | ||
| Continuous theta burst stimulation | Accelerated DMN-targeted cTBS improves processing speed deficits in schizophrenia. | Molecular psychiatry | ||
| Continuous theta burst stimulation | Transcranial magnetic stimulation disrupts the inhibitory role of the right inferior frontal gyrus in bilingual language control. | Brain and language | ||
| Continuous theta burst stimulation | Continuous theta burst stimulation over the dorsolateral prefrontal cortex improves force steadiness during submaximal contractions without visual feedback. | Neuroreport | ||
| Continuous theta burst stimulation | Left DLPFC Involvement in Verbal Working Memory in Ageing: A cTBS-ERP Study. | Neuropsychologia | ||
| Continuous theta burst stimulation | Continuous theta-burst stimulation over the right DLPFC modulates central executive network connectivity in depression: exploratory analysis of a randomized clinical trial. | Journal of affective disorders | ||
| Continuous theta burst stimulation | The Protective Mechanism of Continuous Theta Burst Stimulation in the Acute Phase of Stroke Through Modulation of the Calcineurin/AKT/FOXO1 Signaling Pathway. | CNS neuroscience & therapeutics | ||
| Continuous theta burst stimulation | Continuous theta burst stimulation to the frontal pole durably decreases medial frontoamygdala connectivity. | International review of psychiatry (Abingdon, England) | ||
| Continuous theta burst stimulation | Role of the Upper Motor Neuron in the Generation of Fasciculations in Early Disease Stages of Amyotrophic Lateral Sclerosis. | Neurology |