Prader-Willi Syndrome

The goal of this study is to help teens with Prader-Willi Syndrome (PWS) and their families learn practical strategies for managing issues like irritability, meltdowns, and anxiety. The main objective of the study is: To adapt current Regulating Together materials to create an outpatient group program for emotion dysregulation in Prader-Willi Syndrome (PWS) that will improve psychosocial outcomes for youth with PWS.

This is a proof-of-concept, open-label, dose-escalation study to evaluate the safety, tolerability, pharmacokinetics, and efficacy of CSTI-500 in participants with genetically confirmed Prader-Willi Syndrome (PWS) who are 13 to 50 years of age. Participants will receive increasing doses of CSTI-500, and blood levels will be measured to guide individualized dosing.

This is a placebo controlled clinical trial to assess the utility of light therapy as a sufficient treatment for excessive daytime sleepiness in patients with Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is a rare genetic disease, with hyperappetite and severe obesity. At present, there is no effective drugs and interventions to help control the appetite of PWS patients. More and more evidence has shown that gut microbiota is closely related to obesity. Probiotics and prebiotics can improve the structure of gut microbiota, thus improve blood lipid levels and other biochemical indicators of obese people. Therefore, this study intends to explore the effectiveness and safety of probiotics and prebiotics in controlling appetite and weight gain of PWS children.

This is a Phase 3, randomized, double-blind, placebo-controlled, multicenter, global clinical study to assess the efficacy and safety of pitolisant in patients living with Prader-Willi syndrome. The primary objective of this study is to evaluate the efficacy of pitolisant in treating excessive daytime sleepiness (EDS) in patients ≥6 years of age with Prader-Willi syndrome. Secondary objectives include assessing the impact of pitolisant on: Irritable and disruptive behaviors Hyperphagia Other behavioral problems including social withdrawal, stereotypic behavior, hyperactivity/noncompliance, and inappropriate speech

Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease (AD)/age-related dementias (ARD). Participants: Participants include 120 adults with ID, their caregivers, and their coaches (up to 360 individual participants, grouped as triads), recruited through the University of North Carolina at Chapel Hill and the University of Arkansas. Participants also include 16 exercise professionals. Procedures (methods): Each cohort will include 20 triads who are randomly assigned to the PACE program or the waitlist control group.

The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center. The main questions it aims to answer are: * Can we identify common metabolic profiles for all imprinted diseases? * Which imprinting disorders have an impact on the metabolic profiles of IDs? * Which are the metabolic risks associated to IDs? * Can we use the metabolic profiles for the clinical classification and prognosis of IDs? * Are there common therapeutic approaches for all IDs?

The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD). Moreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.

The purpose of this study is to evaluate the safety, tolerability, and PK of RM-718 in healthy subjects with obesity and in patients with MC4R Pathway Impairment

This study uses a noninvasive technique called transcranial magnetic stimulation (TMS) to study hyperphagia and satiety in Prader-Willi syndrome. TMS is a noninvasive way of stimulating the brain, using a magnetic field to change activity in the brain. The magnetic field is produced by a coil that is held next to the scalp. In this study, the investigators will be stimulating the brain to learn more about how TMS might improve hyperphagia in Prader-Willi syndrome.

The goal of this clinical trial is to evaluate the safety and effects of a new drug called BMB-101 in people with Prader-Willi Syndrome (PWS). This study is designed as a multi-centre, double-blind, randomized, placebo controlled 2-part study with a blinded main phase followed up an open label extension phase.

This research study is comparing the effectiveness of a weight loss medication called Tirzepatide in young adults with Prader-Willi Syndrome and/or hypothalamic obesity, as compared to young adults with obesity that is unrelated to a genetic syndrome or underlying medical cause. These groups will be given medication for 1 year to see how weight and other health factors are effected by the medication.

Studying the cerebral activity of children with Prader-Willi Syndrom (PWS) when the study propose to them nasal activations.

Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder stemming from genetic damage in the 15q11-q13 region, leading to hypothalamic dysfunction. Individuals with PWS often exhibit social interaction challenges, intellectual deficits, significant eating disorders, mood disturbances, and sensory-related autistic features. Although PWS is recognized by DSM-5 as a genetic cause of Autism Spectrum Disorder (ASD), ASD diagnosis in PWS remains rare in France. The CASSPER study aims to investigate the distinct autistic and sensory profiles in children with PWS, also analyzing the potential impact of early oxytocin treatment on these manifestations, in line with recommendations for early and tailored intervention.

The STIM-PRADER study aims to assess the effectiveness of auricular vagal neuromodulation therapy (aVNT) on emotional, behavioral, and cognitive domains impaired in Prader-Willi Syndrome (PWS). Currently, no treatment exists that addresses the multiple alterations associated with this rare neurodevelopmental disorder that significantly impact patients and their families. We will investigate the effects of daily, four-hour aVNT stimulation over a nine-month period on (a) emotion regulation, including assessing the persistence of effects following stimulation; (b) executive functions, including inhibition, flexibility, planning, and updating information in memory; (c) hyperphagia; (d) depression; (e) quality of life; (e) and the threshold at which effects on these dimensions can be observed. We will conduct a longitudinal multicenter parallel randomized controlled single-blind exploratory trial. Twenty-four adults with PWS and 24 caregivers will be randomly assigned to receive either active or sham stimulation under identical conditions (four hours per day, seven days per week over nine months). The primary outcome, focusing on emotional control, will be assessed every two weeks for both participants and caregivers. Secondary outcomes (executive functions, hyperphagia, depression, and quality of life) will be measured at four time points: pre-intervention, at three months, six months, and at nine months. As this is the first multicenter randomized controlled trial investigating the effects of aVNT as a treatment in PWS patients, we anticipate witnessing improved emotional regulation and reduced eating disorders, along with enhancements in executive functions and quality of life in the active stimulation group. The findings from this project could support the development of broader therapeutic approaches for other conditions in which behavioral disorders and emotional processing deficits affect patients and their caregivers.

Prader-Willi Syndrome (PWS) is a rare syndrome with a prevalence of 15 to 20 000 at birth. PWS represents a large fraction of mental retardation syndromes due to a genetic cause and the most frequent cause of genetic obesity. The majority of the patients are seen by paediatricians. This syndrome is responsible for severe physical, psychological and social impairments. The diversity and the severity of the manifestations of this disease explain the requirement of multidisciplinary care which deserve specific evaluation. Today the follow-up and management of a great proportion of these patients are greatly insufficient if not absent. Teams strongly lack information on the natural history of this severe disease and on the factors involved in its evolution and the outcome of these patients throughout life. The present project is to implement a register in the whole country for children and adult patients

Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes. Medical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines. The aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including: 1. comorbidities 2. medical and their impact on quality of life 3. medication use 4. the need for adaption of medication dose according to each syndrome Methods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.

The overall objective of this study is to measure the effect of growth hormone (GH) treatment on physical and psychosocial health in adults with Prader-Willi syndrome. Adults with PWS who have not been treated with GH during the past three years and who will start with GH treatment as part of regular patient care will be asked for informed consent to participate in this open-label prospective cohort study. We hypothesize that growth hormone treatment will improve the physical and psychosocial health.