Current Research Studies

Angelman Syndrome Natural History Study

Overview Participation in this study will help better our understanding of how development, behavior and communication change in individuals with AS over the course of their lives. We may know a lot about AS, but there are certain ages and issues that have […]

Augmentative and Alternative Immersion

Overview The purpose of this study is to evaluate the impact of communication partner coaching in Augmentative and Alternative Communication (AAC) intervention. The primary goal of the study is to evaluate the impact of the Model, Encourage, Respond (MODELER) AAC […]

Brain Imaging Study

UNC School of Medicine is conducting TWO Brain Imaging Studies Infants up to 6 months old The goal of the study is to learn more about the early brain and behavioral development of infants with AS in order to aid […]

Clinical Trial: HALOS

The HALOS clinical trial, sponsored by Ionis Pharmaceuticals is now open. This is a study of the safety and tolerability of ION582 in individuals with Angelman syndrome. ION582 is an investigational antisense medicine designed to increase production of UBE3A protein. […]

Clinical Trial: KIK-AS

The KIK-AS clinical trial, sponsored by GeneTX Biotherapeutics and Ultragenyx Pharmaceutical is now open. This is a study of the safety and tolerability of GTX-102 in children with Angelman syndrome. Watch a webinar about the KIK-AS trial. Participant Requirements Below […]

Clinical Trial: Tangelo

The Tangleo clinical trial, sponsored by Hoffman La Roche is now open. This is a study of the safety and tolerability of RO7248824 in children with Angelman syndrome. Participant Requirements Below is a preliminary list of inclusion criteria: Inclusion […]

COA Measures in AS

Clinical Outcomes Solutions (COS) is a healthcare research company that specializes in research about the impact of illnesses on people’s lives. COS is conducting a study on the experience of children with AS and is looking to obtain feedback on […]

Communication and Motor Skills

A study being conducted at University of Connecticut is studying the social communication and motor skills in Angelman syndrome. Participation Complete an online survey about your individual’s social and communication style. The survey will take 40 – 60 minutes. You’ll […]

Extraction of Neuronal Stem Cells from Dental Pulp for Human Neurogenetic Disease Studies

Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis, TN is conducting a research study to determine if neurons can be grown from the dental pulp of individuals with various neurogenetic syndromes including chromosomal duplications […]

Fathers Perception of Support

If you are the father of a child with Angelman syndrome, you are invited to participate in a research study. The goal of this study is to better understand how fathers of a child with a genetic condition perceive support […]

FREESIAS: Biomarkers Study

Webinars: Updates on FREESIAS and phase 1 study beginning summer 2020. About FREESIAS and how it is related to Phase 1 clinical trials. Roche and Genentech are sponsoring a non drug trial to develop biomarkers for future […]

Gut Microbiome in AS

A study at Purdue University will look at gut function in Angelman syndrome and its relationship to behaviors and diet. Gastrointestinal or stomach issues are common in Angelman syndrome however, the reasons are not known. Researchers will compare gut function […]

Harvard Music Study

Researchers at Harvard are studying how people with AS respond to and participate in musical activities, and how parents interact musically with their children. In the study, the researchers will play your child a series of recorded songs and poems […]

Movement Disorders in Angelman Syndrome

The goal of this study is to better understand the abnormal movements that are particularly troubling to people with Angelman syndrome, what treatment has worked and what has not worked. For those whose movements remain troublesome, caregivers will be asked […]

PANDAbox: Early Development in Angelman Syndrome

Telehealth Study on Early Development in Angelman Syndrome at Purdue University The Purdue University Neurodevelopmental Family Lab is recruiting families of children with Angelman syndrome 24 months old and under. This study aims to improve understanding of how children with […]

Research Interview about AS

Overview This is a non-medication research interview study seeking information about symptoms and effects on daily life that children with Angelman Syndrome experience, from the caregiver’s perspective. Information from these interviews will be used to better understand how to assess […]

Sleep Survey

A team of researchers in the School of Health Sciences at University of Canterbury, New Zealand, are investigating sleep problems in people with Angelman syndrome. The goal of the study is to help researchers understand parents’ perceptions of the nature […]

Tele-SPARC Study

The Supporting Parent-Adolescent Relationships and Communication (SPARC) Project is being conducted at Notre Dame University in Fort Wayne, IN. The study aims to find the best way to support families with children with intellectual or developmental disabilities through communication to improve […]

Video Capture Study

Casimir, a clinical research organization, Boston Children’s Hospital and Ionis Pharmaceuticals are in the process of developing an at-home assessment for potential use in clinical trials that would capture patients with Angelman syndrome in their everyday environment. Casimir is currently […]

Vision and Communication Survey

A team of researchers at UNC are investigating the prevelance of cortical visual impairment (CVI) in people with Angelman syndrome. The goal of the study is to estimate how many people with AS have CVI, assess the severity and determine whether […]

Help Find New Treatments For Angelman Syndrome