Clinical Research Directory

REVEAL: A Phase 3 Study of ION582 in Angelman Syndrome

The purpose of this study is to evaluate the efficacy and safety of ION582 in children and adults with Angelman syndrome caused by a deletion or mutation of the UBE3A gene.

A Natural History Study of Angelman Syndrome

The goal of this observational study is to learn about the natural progression of Angelman syndrome (AS) in children and adults with a confirmed genetic diagnosis of AS. The main questions it aims to answer are: * How do developmental skills, such as communication, motor abilities, and adaptive behaviors, change over a 1-year period in people with AS? * Are there specific patterns in brain activity or sleep that are associated with changes in AS symptoms over time? Participants will: * Visit the study site 5 times over 1 year (approximately every 3 months) for assessments. * Complete tests and questionnaires about development, behaviors, and sleep with the help of their caregivers. * Undergo electroencephalograms (EEGs) to measure brain activity and wear a sleep-monitoring device at home (to collect actigraphy data).

A Phase 1/2 Study of the Safety and Efficacy of MVX-220 in Angelman Syndrome

The purpose of this study is to evaluate the safety and efficacy of MVX-220 gene therapy in children and adults with Angelman syndrome with UBE3A gene deletion, uniparental disomy, or imprinting center defect genotypes.

Use of Eye Tracking to Study Social Perception Abnormalities in Children With Angelman Syndrome

Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately 1 in 15,000 children - approximately 500,000 people worldwide. It is a major neurodevelopmental disorder characterized by severe developmental delay with significant intellectual disability, lack of oral language, motor, balance, and sensory impairments. While basic research and clinical trials are progressing, the scientific community is still searching for key biomarkers to assess significant improvements in individuals participating in clinical trials. Eye tracking has been widely used in the diagnosis of social perception abnormalities in children with autism spectrum disorder, as has already been the case for other rare neurodevelopmental diseases. However, few studies have highlighted the usefulness of eye tracking as a diagnostic tool for social behavioral disorders in individuals with Angelman syndrome. Given the prevalence of autistic-like symptoms in patients with AS, if eye-tracking can identify abnormalities in social perception in children with Angelman syndrome, these measurements could become a biomarker for therapeutic studies in these patients.

A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)

The main goal of the study is to evaluate the safety and efficacy of GTX-102 in participants with Angelman syndrome.

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?

Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS)

The primary objective of this study is to evaluate the effect of GTX-102 in cognitive function in participants with deletion-type Angelman Syndrome (AS).

Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)

The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals with syndromic intellectual and developmental disorders. Participants will be asked to complete virtual study assessments at intake and then on a monthly basis for the duration of 3-6 months. In addition, participants will attend weekly or biweekly virtual intervention visits with a study therapist.

Long-term Extension of GTX-102 in Angelman Syndrome

The primary objective of the study is to evaluate the long-term safety profile of GTX-102 in participants with Angelman Syndrome (AS)

HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome

The purpose of this study is to evaluate the safety and tolerability of ascending doses of ION582 administered intrathecally in participants with Angelman syndrome.

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.

Natural History Study for Patients With Angelman Syndrome

This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 3-year recruitment phase, a 5 year follow-up and a year to analyze the collected data. The investigators plan to include 30 patients with a semi-annual follow-up for 4 years. The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.

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.

Angelman Syndrome Natural History Study

The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be useful for future clinical trials.

Study of the Prevalence of Autistic Traits in Angelman Syndrome

The goal of this observational cross-sectional study is to establish the prevalence of autism spectrum disorder in children and adolescents with Angelman syndrome. The main questions it aims to answer are: * which clinical variables differentiate AS patients with and without Autism Spectrum Disorder between genetics, epilepsy, pharmacotherapy, behavioural problems, parenting style and parents' perceived stress. * which clinical variables differentiate parenting styles and levels of perceived stress. Data from neuropsychological, speech therapy and physiotherapeutic assessments are collected during regular clinical follow-ups, regarding: cognitive development ("Bayely Scales of Infant Development-III", Cognitive Scale) and adaptive behaviour; Autism and Autism Spectrum Disorder ("Autism Diagnostic Observational Schedule-2"); parental stress and parenting styles; social-communicative skills; motor development.

Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy

Recent studies have shown that the aperiodic part of the signal (neuronal avalanches) of electroencephalography (EEG) contains important information about the dynamics of neuronal networks. Indeed, this has helped to identify functionally altered areas in patients with temporal epilepsy by simply using the resting EEG signal. Furthermore, it has been seen that the propagation of neuronal avalanches (VNs) correlates with the morphological organization of the cerebral cortex. Therefore, NAs represent a measure with direct utility for studying functional reorganization pre and post drug/surgical treatment. In addition, the aperiodic portion of the signal may represent a noninvasive measure of the excitation/inhibition relationship, which is known of being altered both in epilepsy and in some rare neurodevelopmental syndromes (example: Angelman and Dup15q)

Angelman Natural History Study - FAST Spain

The goal of this study is to conduct a prospective, longitudinal study to observe the natural clinical progression and disease outcome of AS patients receiving no disease-modified intervention, with the purpose of obtaining data that will be useful for future clinical trials.

The Global Angelman Syndrome Registry

The Global Angelman Syndrome Registry is an online patient organisation driven registry to collect information about the natural history of children and adults with Angelman Syndrome. The registry will facilitate 1) recruitment for clinical trials into therapies and interventions to benefit participants with Angelman Syndrome and their families, and 2) advancement of research and best standards of care for Angelman Syndrome. The registry is currently available in English, Spanish, Traditional Chinese, Italian, Polish, Hindi, and Brazilian Portuguese.