Carrboro

Researchers are conducting a prospective, longitudinal natural history study to better understand Angelman syndrome in children and adults. The study aims to collect detailed data through both investigator observations and reports from parents. This information will help establish Angelman syndrome-specific norms for outcome measures, supporting the design of future clinical trials and improving care for those affected by the condition. This observational study does not involve any treatments or interventions. Instead, participants will be followed over time to gather information about their medical history and development. The study collects data through various assessments including the Vineland Adaptive Behavior Scales, Bayley Scales of Infant and Toddler Development, and the Observer-Reported Communication Ability Measure, conducted over an average period of one year. Participants will be involved in regular evaluations that include medical history reviews and developmental assessments. These assessments provide valuable information on communication abilities and adaptive behaviors. The study is sponsored by Boston Childrens Hospital and will continue through April 2031. The collected data aims to support future research and enhance understanding of Angelman syndromes progression and care needs.

Researchers are evaluating the safety and tolerability of increasing doses of ION582, given by injection into the spinal fluid, in individuals with Angelman syndrome. This open-label Phase 1-2a study aims to understand how the body processes ION582 and monitor any potential side effects in approximately 70 participants aged from birth to 50 years. Angelman syndrome is a genetic condition characterized by developmental delays and neurological challenges. The study consists of three parts. Part 1 involves multiple ascending doses of ION582 administered over 13 weeks with at least 4 weeks between doses, followed by a minimum 12-week follow-up. Part 2 includes additional dosing over 49 weeks with a similar follow-up period. Part 3 offers extended treatment for up to three more years, followed by a 32-week safety follow-up. Participants receive ION582 as intrathecal injections during these periods. Participants will undergo regular safety assessments, laboratory tests, and monitoring of drug levels in blood and spinal fluid throughout the study. Researchers will track adverse effects, pharmacokinetics, and pharmacodynamics of ION582 up to week 81 in Parts 1 and 2. The study also includes long-term follow-up to observe ongoing effects and safety. Total participation time can extend up to several years depending on the study part.

Researchers are evaluating a patient navigation program designed to increase the number of patients who complete lung cancer screening LCS using low dose computed tomography LDCT. The study focuses on individuals who meet current lung cancer screening guidelines, aiming to improve access and completion rates through personalized support. This single-arm interventional study is sponsored by Virginia Commonwealth University and involves adults aged 50 to 80 years. The intervention involves centralized patient navigators trained to assist patients with clinical, logistical, and financial challenges related to lung cancer screening. Navigators use case management based on social work principles and tailor their support to each participants needs. They assess barriers across individual, organizational, economic, and sociocultural domains at the first visit and provide follow-up assistance as needed. During the study, participants will complete navigation-related activities while researchers track lung cancer screening completion within 2 weeks to 10 months following the first day of navigation. The study also measures the feasibility and acceptability of the navigation program, and its impact on health-related quality of life and financial distress at baseline and after the intervention. Participation details, including barriers and outcomes, will be monitored throughout the study period, which ends in December 2027.

Researchers are evaluating a remote, non-drug program called Regulating Together RT to help children and adolescents with Tuberous Sclerosis Complex TSC and related neuropsychiatric challenges manage symptoms of emotion dysregulation. The study focuses on improving emotional control in young participants aged 8 to 17 years with behavioral symptoms linked to TSC. This pilot feasibility trial includes children diagnosed clinically or genetically with TSC who show behavioral issues such as temper tantrums, aggression, self-injury, or impulsivity. The study consists of several phases over 22 weeks. It starts with a single in-person screening and baseline visit, followed by a 5-week control phase without intervention. Then, participants receive an intensive RT program involving small group behavioral therapy sessions twice a week for 5 weeks, conducted remotely by trained psychologists. Caregivers attend separate but parallel sessions. After this, there is a one-time individualized consultation with a psychologist. Finally, participants practice the learned skills at home during a 10-week follow-up, ending with a final interview to explore factors affecting the intervention. Throughout the study, parents complete assessments measuring emotional and behavioral changes at each phase, including tools like the Emotion Dysregulation Inventory and other behavior rating scales. The study team measures changes in emotional dysregulation from baseline through intervention and follow-up. Participants need access to video-capable devices and internet for remote sessions. Researchers monitor progress through questionnaires, interviews, and behavioral observations, aiming to understand how well the RT program supports emotional regulation in children with TSC.

Researchers are investigating whether telehealth-based Family Navigation can speed up enrollment in community-based autism intervention programs for toddlers under 4 years old living in rural North Carolina after their recent autism diagnosis. The study aims to find out if this navigation support reduces the time to start intervention, improves developmental progress at 18 months post-diagnosis, and enhances caregiver well-being compared to usual care. Participants are randomly assigned to one of two groups. One group receives up to four virtual sessions with a trained navigator who helps caregivers identify and enroll in recommended early intervention services. The other group, serving as a comparison, receives educational materials about early intervention and community supports at four timepoints during the first three months after joining the study. Throughout the study, caregivers and children will be monitored for time to intervention start, developmental changes, and caregiver well-being. Developmental outcomes are assessed at baseline and 18 months post-diagnosis using standardized measures, while caregiver well-being is measured at six months. The study lasts up to 18 months post-diagnosis, with all contact and assessments conducted virtually to suit the rural setting.

Researchers are studying the effects of obudanersen in children and adults with Angelman syndrome caused by specific genetic changes in the UBE3A gene. This Phase 3 clinical trial aims to evaluate the safety and effectiveness of obudanersen compared to a placebo. The study involves two groups based on age pediatric participants aged 2 to less than 18 years, and adults aged 18 to 50 years. Participants will receive 80 mg of obudanersen or a matching placebo through injections into the spinal fluid every 12 weeks during a double-blind treatment period lasting about 60 weeks. After this, participants can enter a long-term extension period of about 25 months where all will receive obudanersen, with the dose kept blinded. Following the extension, there is an 8-month follow-up to monitor participants. Throughout the study, participants and their caregivers will attend scheduled visits for treatment and assessments. These include tests measuring communication, cognition, behavior, daily living skills, sleep problems, and motor skills using various clinical scales. Safety is monitored by tracking side effects, vital signs, and lab tests. The total study participation spans several years including screening, treatment, extension, and follow-up periods.

Researchers are evaluating a telehealth intervention called Surviving and Thriving in the Real World - Telehealth STRW-T for autistic adolescents in their last two years of high school. This study compares STRW-T, which targets daily living skills, to a control telehealth intervention called Program for the Education and Enrichment of Relational Skills - Telehealth PEERS-T that focuses on social skills. The goal is to assess changes in daily living skills and related outcomes to support successful transition to adulthood for adolescents with high functioning autism spectrum disorder ASD. The study involves 192 autistic adolescents aged 15 to 21 who are randomized to either the STRW-T group or the PEERS-T control group, with 96 participants in each arm. STRW-T consists of 15 weekly sessions delivered via Zoom, including caregiver group sessions and caregiver-teen dyad sessions focusing on daily living skills like morning routine, laundry, cooking, shopping, and money management. PEERS-T also runs for 15 weeks with concurrent caregiver and teen telehealth sessions targeting social skills development. Both interventions are designed to be meaningful and matched in duration. Participants will be assessed at baseline, after treatment, at 6-month follow-up, and 6 months post-high school graduation. Evaluations include standardized measures of daily living skills such as the Vineland Adaptive Behavior Scales and Adaptive Behavior Assessment System. The study also tracks college, employment, and quality of life outcomes after graduation. Caregiver input and daily diaries help monitor progress, with safety and mental health monitored throughout the study. Participation spans approximately 1.5 years to capture both immediate and longer-term effects of the interventions.