View clinical trials related to Syndrome.
Filter by:The goal of this randomized clinical trial is to study the effect of testosterone replacement therapy during puberty in boys with Klinefelter syndrome (KS, 47,XXY). The main questions to answer are how treatment with testosterone will affect body fat mass, lipid and glucose metabolism, growth and body proportions, bone mineralization as well as effects on neurocognitive development and emotional and social difficulties. Participants will be randomized to two years treatment with testosterone or placebo.
The goal of this observational study is to investigate the relationship between functional magnetic resonance imaging (fMRI) findings of the brain and symptom presentation in patients with bladder pain syndrome (BPS). The main questions it aims to answer are: 1. To explore the distribution characteristics of fMRI imaging and possible target lesions in the patient population. 2. To provide appropriate clues and evidence for etiological exploration and therapeutic targeting of BPS. Participants will undergo fMRI as well as other routine laboratory tests and queries.
The goal of this double-blind, interventional, randomized case-control, pilot trial is to evaluate the effects of active sulfurous (STW) versus placebo (SDW) inhalations on blood test parameters, serum inflammatory cytokines, spirometry data, as well as qualitative and quantitative changes in the nasal microbiome of subjects affected by long Covid. The main questions it aims to answer are: - if STW inhalations are effective on respiratory issues due to long covid compared to the placebo inhalation (SDW) - if STW inhalations are effective on long covid related fatigue issues compared to the placebo inhalation (SDW) - if H2S inhaled with STW is effective in modulating (decreasing) cytokines which are related to long covid cytokine storm compared to placebo inhalation with no H2S (SDW) - if STW inhalation modify nasal microbiome both from a qualitative and quantitative point of view respect to placebo inhalation (SDW) Participants will be randomly assigned to active inhalations (STW) or placebo inhalations (SDW) arm and subjected to 12 consecutive sessions of 20 minutes. Both arms will be tested for: - cytokines and inflammatory markers concentration (IL1b, IL6, ACE, GSS, S100B, Hs-CRP) - spirometry (resting, forced, DLCO) - exertion response (6 minutes walking test) - nasal microbiome sampling at visit 1 (enrolment), at visit 2(right after the inhalation treatment) and at visit 3 (3 months after treatment). Researchers will compare results reported by STW to those of SDW group to see if significative differences are detectable.
The aim of the study is to evaluate the efficacy of home treatment with a postbiotic-based gel for the management of periodontal inflammation in patients with Down syndrome. Patients will be enrolled at the S.C. Odontostomatologia dell'Azienda Ospedaliera "Ordine Mauriziano di Torino", Turin, Italy. After the collection of the periodontal clinical indexes (BoP%, PCR%, dental mobility, mMGI, compliance and satisfaction questionnaire), patients will undergo a professional mechanical debridement with ultrasonic instruments and glycine powders. Then, they will be randomly divided into two groups according to the home treatment: - in the Trial group Biorepair Plus Parodontgel Intensive (containing microRepair®, hyaluronic acid, Lactobacillus Ferment and Aloe Barbadensis Leaf Juice Powder) will be used once a day for all the duration of the study - in the Control group, a placebo gel without (active ingredients) will be used once a day for all the duration of the study. Indexes will be re-evaluated after 1 (T1), 3 (T2) and 6 months. The professional mechanical debridement will be performed again at T3 timepoint.
The objective of this project is to explore the potential of functional near- infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Fragile X Syndrome (FXS) that is still without cure. The limited availability of objective and quantitative biomarkers to monitor brain function poses challenges to advancing therapeutic research. With clinical trials on the horizon, the need for precise measurement to evaluate treatment efficacy is pressing. The investigators seek to address this gap by assessing the prognostic reliability of both resting and task- evoked fNIRS. The primary objectives of this pilot study are: 1. to determine the feasibility of fNIRS in individuals with FXS; 2. to collect pilot data on individuals with FXS to determine the patterns of cerebral oxygen consumption as measured by fNIRS; 3. to compare cerebral oxygen consumption changes at rest and from visual/auditory tasks in affected individuals versus age-appropriate healthy volunteers. The secondary objectives of this study are: 1. to correlate cerebral oxygen consumption changes from visual/auditory task in affected individuals to other measures of disease state (e.g., neuropsychological assessment, disease- specific severity rating scales); 2. to examine test-retest reliability of our fNIRS measures in both affected individuals and healthy controls.
The objective of this project is to explore the potential of functional near-infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Creatine Deficiency Syndromes (CDS), a group of rare neurodevelopmental disorders. Among these disorders, effective treatments are lacking for two. The limited availability of objective and quantitative biomarkers to monitor brain function poses challenges to advancing therapeutic research. With gene therapy trials on the horizon, the need for precise measurement to evaluate treatment efficacy is pressing. This project seeks to address this gap by assessing the prognostic reliability of both resting and task-evoked fNIRS. Arousal of participants will be also assessed through the measure of spontaneous heart rate (HR) fluctuations. The primary objectives of this pilot study are: 1. to determine the feasibility of fNIRS in individuals with CDS; 2. to collect pilot data on individuals with CDS to determine the patterns of cerebral oxygen consumption as measured by fNIRS; 3. to compare cerebral oxygen consumption changes at rest and from visual/auditory tasks in affected individuals versus age-appropriate healthy volunteers. The secondary objectives of this study are: 1. to correlate cerebral oxygen consumption changes from visual/auditory task in affected individuals to other measures of disease state (e.g., neuropsychological assessment, disease- specific severity rating scales); 2. to examine test-retest reliability of our fNIRS measures in both affected individuals and healthy controls.
Deep-brain stimulation (DBS) is an effective treatment for patients with Meige syndrome. The globus pallidus interna (GPi) and the subthalamic nucleus (STN) are both accepted targets for this treatment. Researchers designed this study to compare the 12-month outcomes for patients who undergo bilateral stimulation of the GPi or STN.
The research project consists of an observational study. Obstructive Sleep Apnea (OSA) is a condition characterized by recurrent episodes of upper airway collapse during sleep, leading to decreased blood oxygen levels and disruptions of normal sleep patterns. Estimates of its prevalence vary, but its impact on patients' quality of life is evident. The research aims to explore the perception and awareness of the disease and its impact on the individual and couple's lives of patients with OSA and their bed partners, to assess patients' perceptions of the disease and symptoms, as well as their bed partners' perceptions. Moreover, psychological aspects of living with OSA, such as perceived stress, depression, anxiety, sleep quality, daily sleepiness will be studied to observe the association with Continuous Positive Airway Pressure (CPAP) adherence.
This is an observational study to deeply phenotype the disorder of POTS using multiple testing modalities.
This study is planned to Evaluate the Efficacy and Safety of test drug (AJU-S56 5%) compared to control drug(vehicle) in Patients with Dry Eye Disease.