Clinical Research Directory

Cerebellar TMS and Satiety in Prader-Willi Syndrome

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.

Observational Study of VYKAT™ XR in Patients With Prader-Willi Syndrome

Prospective observational study developed to generate more evidence of the safety profile, clinical characteristics and outcomes of patients with PWS treated with VYKAT XR.

Open-Label Extension Study of DCCR in Patients With Prader-Willi Syndrome

The purpose of this is study is to evaluate the long-term safety of DCCR (diazoxide choline) extended-release tablets) in patients with Prader-Willi syndrome.

A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment

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

Impact of Bright Light Therapy on Prader-Willi Syndrome

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

A Study of Oral ARD-101 in Patients With Prader-Willi Syndrome

A Phase 2, Single-Arm, Open-Label Study to Evaluate the Safety and Efficacy of ARD-101 in Patients with Prader-Willi Syndrome

Regulating Together for Prader-Willi Syndrome: A Group Behavioral Therapy for Emotion Dysregulation

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.

A Study of Pitolisant in Patients With Prader-Willi Syndrome

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

Parent and Infant Inter(X)Action Intervention (PIXI)

The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays. Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers. The intervention, called the Parent and Infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.

The Intervention of Obesity in Children With Prader-Willi Syndrome Using Prebiotics and Probiotics

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.

Early Check: Expanded Screening in Newborns

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.

ARD-101 for Treatment of PWS: The Hunger Elimination or Reduction Objective Trial

The goal of this clinical trial is to learn if ARD-101 works to treat hyperphagia-related behavior in patients with Prader-Willi syndrome (PWS). It will also teach us about the safety of ARD-101. The main questions it aims to answer are: * Does ARD-101 improve the total score of the HQCT-9 (hyperphagia questionnaire for clinical trials, 9 questions)? * What medical problems do participants have when taking ARD-101? Researchers will compare ARD-101 to a placebo (a look-alike substance that contains no drug) to see if ARD-101 works to treat hyperphagia in PWS subjects. Eligible participants will: * Take ARD-101 or a placebo every day for 12 weeks. * Visit the clinic or have a tele-visit once every 2 to 4 weeks during dosing and then have a tele-visit 4 weeks after stopping the ARD-101 or placebo. * Patients/Caregivers will keep a daily diary. Participants who complete the study may be eligible to enter an open-label extension study where everyone will receive ARD-101.

The Hunger Elimination or Reduction Objective (HERO ) Open -Label Extension (OLE) Trial

The goal of this clinical trial is to learn if ARD-101 works to treat hyperphagia-related behavior in patients with Prader-Willi syndrome (PWS) when used in a long term setting. It will also teach us about the safety of ARD-101. The main questions it aims to answer are: What medical problems do participants have when taking ARD-101 in a long term setting Does ARD-101 improve the total score of the HQCT-9 (hyperphagia questionnaire for clinical trials, 9 questions)? Eligible participants will: Have completed treatment on the AVK-101-301 study through Week 12/End of Treatment Take ARD-101 every day for up to 12 months. Visit the clinic at Months 1, 3, 6 and 12 during dosing and then have tele-visits at Week 2, Months 3 and 9, then 4 weeks after stopping the ARD-101. Patients/Caregivers will keep a daily diary.

A Study of CSTI-500 in Patients With Prader-Willi Syndrome

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.

A Phase 2 Study to Evaluate the Safety and Efficacy of Pitolisant in Patients With Prader-Willi Syndrome, Followed by an Open Label Extension

The primary objective of this study is to evaluate the safety and efficacy of pitolisant compared with placebo in treating excessive daytime sleepiness (EDS) in patients with Prader Willi syndrome (PWS) ages 6 to 65 years.

CBDV vs Placebo in Children and Adults up to Age 30 With Prader-Willi Syndrome (PWS)

This study aims to examine the feasibility and safety of cannabidivarin (CBDV) as a treatment for children and young adults with PWS.

A Clinical Evaluation of Non-Invasive Vagus Nerve Stimulation for Temper Outbursts in People With PWS

The goal of the VNS4PWS clinical study is to test the efficacy, safety, and acceptability of transcutaneous vagus nerve stimulation (tVNS) treatment in people with PWS.

A Study of Pitolisant in Participants With Prader-Willi Syndrome

The purpose of this study is to assess safety of pitolisant in eligible participants with Prader-Willi syndrome (PWS) who completed the End of Treatment (EOT) visit in a parent study (HBS-101-CL-002 \[Open Label Extension (OLE)\], HBS- 101-CL-004, or HBS-101-CL-312 OLE).

Physical Activity and Community EmPOWERment Project

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.

IDMet (RaDiCo Cohort) (RaDiCo-IDMet)

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?

A Study of Setmelanotide in Patients With Prader-Willi Syndrome

This is a Phase 2, open-label study designed to assess the safety and efficacy of setmelanotide in patients with obesity due to Prader-Willi Syndrome (PWS) who are 6 to 65 years of age. Up to 20 patients are planned to be enrolled. Patients will take a daily subcutaneous dose of open-label setmelanotide for up to 52 weeks.

Institutional Registry of Rare Diseases

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.

A 2-Part Study to Assess Efficacy, Safety and Tolerability of BMB-101 for the Treatment of Patients With 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.

Tirzepatide in PWS, HO and GNSO

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.