Carrboro

Researchers are conducting a prospective, longitudinal natural history study to better understand Angelman syndrome in both children and adults. This study uses observations from investigators and reports from parents to collect comprehensive data. The main aim is to gather information that will support future clinical trials and improve care for individuals with Angelman syndrome. There are no specific interventions or treatments being tested in this study. Instead, the focus is on tracking the natural progression of Angelman syndrome over time. Participants will be assessed using various standardized tools to measure development and communication abilities. Participants will be involved for about one year during which their medical history will be recorded. They will undergo evaluations using the Vineland Adaptive Behavior Scales (3rd edition), Bayley Scales of Infant and Toddler Development (4th edition), and the Observer-Reported Communication Ability (ORCA) measure. These assessments aim to gather detailed information about their adaptive behavior, developmental progress, and communication skills throughout the study.

Researchers are evaluating the safety and tolerability of different doses of ION582 given by injection into the spine in people with Angelman syndrome. This Phase 1-2a open-label study involves about 70 participants and aims to understand how the drug behaves in the body and its effects over time. The study includes a newly added group for children under 2 years old to better understand treatment effects in this younger population. The study has three parts. Part 1 includes a 13-week period where participants receive increasing doses of ION582, followed by at least 12 weeks of monitoring without treatment. Part 2 lasts 49 weeks, where participants from Part 1 receive further intrathecal doses and then are followed for at least 12 weeks. Part 3 offers extended treatment for up to 3 years for those who finish Part 2, with an additional 32-week follow-up after treatment ends. ION582 is given via spinal injection during these periods. Participants will have regular assessments including monitoring for side effects, laboratory tests, and evaluations of drug safety and tolerability up to 81 weeks in the early parts of the study and longer if they continue in Part 3. Researchers will carefully track adverse effects, changes in lab results, and overall health. Total study involvement can last over several years depending on participation in the extension phase, with ongoing safety follow-up to ensure participant well-being.

Researchers are evaluating a patient navigation program designed to increase completion rates of lung cancer screening (LCS) using low dose computed tomography (LDCT). This single-arm study focuses on patients who meet current guidelines for lung cancer screening and aims to address barriers that may prevent people from completing screening. The study specifically targets individuals identifying as Black or African-American who have a significant smoking history. The intervention involves patient navigation that evaluates and helps overcome obstacles in four key areas: individual, organizational, economic, and sociocultural. At the first visit, patient navigators assess these barriers and provide support through follow-up visits as needed to assist participants in completing their lung cancer screening. Participants will be involved in navigation-related activities throughout the study. Researchers will measure the number of patients who complete lung cancer screening within a timeframe of 2 weeks to 4 months after the initial visit. The study also monitors participant adherence and progress in overcoming barriers to screening through the navigation process.

Researchers are evaluating a remote, non-drug program called Regulating Together (RT) designed to treat emotion dysregulation symptoms in children and adolescents aged 8 to 17 with Tuberous Sclerosis Complex (TSC) and related neuropsychiatric conditions (TAND). This pilot feasibility study focuses on behavioral symptoms such as temper tantrums, aggressive outbursts, self-injury, and impulsivity. The intervention aims to improve emotional regulation through structured therapy sessions. The intervention involves small group behavioral therapy sessions conducted twice weekly for 60 minutes over five weeks via a secure remote platform. Each session, led by a trained psychologist, integrates cognitive behavioral therapy and mindfulness techniques focused on identifying emotions and practicing coping skills. Caregivers participate in separate concurrent sessions. The study includes an initial in-person screening visit, a 5-week observation control phase, the 5-week intensive RT therapy phase, a one-week individualized consultation, and a 10-week follow-up phase where participants apply learned skills at home. At the end of the study, participants complete a semi-structured interview to assess facilitators and barriers to the intervention. Participants undergo baseline assessments including IQ testing and symptom evaluation. Researchers monitor changes in emotion dysregulation and treatment impact through standardized rating scales administered at baseline, during treatment, and after completion. Adherence is tracked through session attendance and homework completion. The study includes safety monitoring and follow-up evaluations over a total period of approximately 22 weeks from screening through the generalization phase and final interviews.

Researchers are evaluating whether telehealth-based Family Navigation can help toddlers under 4 years old with autism in rural North Carolina start community-based autism interventions more quickly after diagnosis. This study aims to find out if Family Navigation reduces the time to begin intervention, improves developmental outcomes 18 months after diagnosis, and supports caregiver well-being compared to standard care. Participants will be randomly assigned to receive either Family Navigation or Educational Materials. Those in the Family Navigation group will have up to 4 individual virtual sessions with a trained navigator via phone or Zoom to help them find and enroll in recommended early intervention services. The comparison group will receive educational materials about early intervention and community supports at four times during the first three months after enrollment. Throughout the study, researchers will monitor the time taken to start autism-specific interventions from diagnosis up to 18 months later. Caregivers and children will be supported and followed to assess developmental progress and caregiver well-being. The study involves virtual sessions and information sharing, and participation will last at least 18 months post-diagnosis.

Researchers are evaluating the safety and effectiveness of ION582 in children and adults with Angelman syndrome caused by a deletion or mutation of the UBE3A gene. This Phase 3 study includes two groups: pediatric participants aged 2 to under 18 years and adult participants aged 18 to 50 years. The study aims to measure changes in expressive communication abilities using the Bayley Scales for Infant and Toddler Development-4 over one year in the pediatric group. Participants will be randomly assigned to receive either 80 mg of ION582 or a placebo through intrathecal injections during a double-blind treatment period lasting about 60 weeks. After this, all participants who complete the placebo-controlled phase may enter a long-term extension period of approximately 25 months, during which everyone will receive ION582. Following the extension, there is an additional 8-month follow-up period. The study started with three dosing groups but was amended to two arms: 80 mg ION582 and placebo. Throughout the study, participants and caregivers will attend visits for assessments, including developmental tests without caregiver input. Researchers will monitor safety, treatment effects, and adherence. Consent and compliance with study rules, including restrictions on sharing personal medical information publicly, are required. The total participation spans screening, treatment, extension, and follow-up phases lasting over three years in total.

Researchers are evaluating two telehealth interventions for autistic adolescents in their last two years of high school to improve daily living skills and social skills. The study focuses on comparing the Surviving and Thriving in the Real World - Telehealth (STRW-T) intervention, which targets daily living skills, to a control group receiving the Program for the Education and Enrichment of Relational Skills - Telehealth (PEERS-T), which focuses on social skills. The goal is to understand how these interventions impact daily living skills and transition outcomes such as college attendance, employment, and quality of life. The STRW-T intervention includes 15 weekly sessions delivered via Zoom, involving caregiver group meetings and caregiver-teen dyad sessions. These sessions cover essential daily living skills like morning routines, laundry, cooking, grocery shopping, and money management, using evidence-based strategies to help teens practice and master these skills both at home and in the community. The PEERS-T control intervention also lasts 15 weeks and consists of concurrent caregiver and teen group sessions focusing on social skills development but does not address daily living skills. Participants will be assessed at multiple points: before treatment, after treatment, six months after treatment, and six months following high school graduation. Measures include the Vineland Adaptive Behavior Scales and other daily living skills assessments. Researchers will track improvements in daily living skills, as well as outcomes related to college, employment, and quality of life. Safety and progress will be monitored throughout the study to evaluate the lasting effects of the interventions over time.