Troina

Researchers are evaluating the effects of AEF0217 on adaptive behaviors in adults and older adolescents with Down Syndrome. This Phase 2B trial aims to determine if daily AEF0217 over 24 weeks improves daily life activities, cognitive functions including fluid and crystallized cognition, quality of life, and sleep. The safety of AEF0217 is also being studied by comparing three different doses to a placebo. Participants will be randomly assigned to receive one of three doses of AEF0217 or a placebo daily for 24 weeks. The study includes multiple visits initial baseline visits, follow-ups at weeks 1, 2, 4, 8, 12, 18, 24, and a final follow-up at week 32. After 24 weeks, those who complete treatment may join a 12-month open-label extension trial. Safety assessments include blood and urine tests, while efficacy is measured through adaptive behavior, cognition, sleep, and quality of life evaluations. Participants will attend six clinic visits accompanied by a caregiver to complete tablet-based tests and questionnaires. Phone calls will be made five times during the study to check wellbeing. Researchers will monitor vital signs, laboratory values, and adverse events throughout the trial. The total participation period ranges up to 36 weeks including follow-up. An independent safety committee will review safety data to ensure participant protection during the study.

Researchers are investigating Pediatric Acute-onset Neuropsychiatric Syndrome PANS, a complex disorder marked by sudden symptom onset and diagnosed mainly through clinical criteria due to the lack of reliable biomarkers. This study aims to identify neurophysiological, molecular, genetic, and metabolomic markers related to disease onset, progression, and response to treatments such as antimicrobial, anti-inflammatory, and immunomodulatory therapies. Understanding these biomarkers may improve diagnosis, clarify disease mechanisms, and guide more targeted treatments. The study involves detailed clinical and sleep evaluations, including overnight polysomnography and EEG recordings, standardized psychometric assessments, and cognitive testing in children and adolescents diagnosed with PANS. Biological samples will be collected for multi-omics analyses like whole-exome sequencing, microRNA profiling, and metabolomic studies. Additionally, a maternal immune activation animal model will be used to explore causal mechanisms underlying PANS symptoms, combining behavioral, electrophysiological, and molecular assessments. Participants will undergo comprehensive clinical, neurophysiological, genetic, and molecular evaluations over an average of 36 months. Data collected include inflammatory biomarker concentrations, microRNA expression, metabolomic profiles, and genetic variant frequencies. These measurements will be analyzed to identify diagnostic and prognostic biomarkers. Safety and clinical status will be monitored throughout, with repeated assessments to understand disease trajectories and treatment responses.

Electrocardiogram ECG Q-T prolongation is a heart rhythm disorder that can lead to serious arrhythmias. This observational study focuses on children and adolescents starting psychotropic medications that may increase the risk of QT prolongation. Researchers aim to understand how often QTc prolongation occurs as a side effect during long-term treatment with these drugs. Participants will have ECG tests recorded at the start of psychotropic therapy and again after 3, 6, and 12 months to monitor changes in the QT interval. The study includes groups of patients taking one psychotropic drug, those switching from one drug to another, and those on multiple drugs affecting the QT interval. This setup helps evaluate how different medication regimens might impact heart rhythm. During the study, participants will undergo regular ECG assessments and monitoring for any cardiac events at baseline and multiple time points up to 18 months after enrollment. Researchers will analyze these data to track changes in the QT interval and document any heart-related complications. The study is sponsored by Meyer Childrens Hospital IRCCS and will follow participants until January 2027.

Parkinsons disease PD is a neurological disorder that worsens over time, with symptoms such as tremors, stiffness, and slow movement. The speed of progression varies among individuals. This research is focused on evaluating how well FoslevodopaFoscarbidopa works in treating adults with advanced PD in Italy, while also looking at the quality of life for caregivers when present. FoslevodopaFoscarbidopa is an approved medication for Parkinsons disease. In this observational study, about 270 adult participants prescribed FoslevodopaFoscarbidopa by their doctors will receive the drug through a subcutaneous infusion as part of their regular care. Treatment follows the local approved label and is managed by the participants physician. Participants will be observed for up to 12 months without any additional interventions beyond their standard treatment. Participants will attend regular hospital or clinic visits according to their usual care schedule. Researchers will monitor changes in quality of life using the PD Questionnaire-39 PDQ-39 up to about 6 months after starting treatment. The study aims to collect real-world data on treatment impact with no expected extra burden on participants during the follow-up period.

This research aims to explore the unmet informational, psychological, and clinical needs of patients diagnosed with isolated REM Sleep Behavior Disorder iRBD and the challenges experienced by their significant others or caregivers. iRBD is a sleep disorder characterized by dream-enactment behaviors during REM sleep and is recognized as an early sign linked to neurodegenerative diseases. Despite increasing clinical interest, little is known about the emotional and practical difficulties faced by these patients and their families. The study is a multicenter cross-sectional observational survey conducted at several sleep and movement disorder centers. Participants include patients diagnosed with iRBD and their significant others or caregivers who will complete structured online questionnaires. These questionnaires gather data about experiences with the disorder, informational needs, emotional well-being, quality of life, caregiving burden, perceived support, and concerns about future health risks. Participants will provide information once by completing the online surveys. Researchers will analyze unmet needs and psychosocial impacts reported at baseline by patients and caregivers. This information will help improve patient education, clinical care approaches, and support services. The studys duration extends until August 2026, with no further intervention or follow-up scheduled beyond the initial questionnaire completion.