Help Find New Treatments For Angelman Syndrome
There are Angelman syndrome research studies happening at universities and medical centers throughout the country. You can Be the Cure and help advance research by having your family or your individual with Angelman Syndrome participate in research studies. Studies may involve a phone interview, surveys or mailing of information. Some studies may require you to travel to other cities. Others may involve blood tests, EEG’s and other medical procedures. See the list of active studies below to find out if there is a study that is right for you and your family.
As new studies become available the ASF will contact known AS families with the opportunity to participate. Make sure to complete the contact registry to stay informed.
Active Angelman Syndrome Research Studies
If there is a research study below in which you and your family would like to participate, see the description for contact information to receive more information or to enroll.
FREESIAS Endpoint Study
Roche is sponsoring a non-drug study that will help to prepare for future clinical drug trials in AS. The data obtained will serve as a reference point or baseline for future drug trials. Current participating clinics are in Houston, Chapel Hill and Chicago.
Vanderbilt Music Survey
An online, 30 minute survey for families of children 6 months to 5 years old. The study will ask about musical experiences and social and emotional well-being.
Phase 3 NEPTUNE
The NEPTUNE study will evaluate the safety and effectiveness of OV101 on various aspects associated with Angelman syndrome in individuals age 2 – 12 years old.
Early Development in Angelman Syndrome
Conducted through Purdue University, this telehealth study aims to improve understanding of how children with Angelman syndrome develop in early childhood. Participants must be 18 months or younger.
Experiences of Adult Siblings
Conducted through Texas Woman’s University, this survey study aims to understand the experiences of adult siblings of individuals with intellectual disabilities.
Brain Imaging Study
The University of North Carolina (UNC) School of Medicine is now recruiting participants that are Deletion Positive up to 5 years old, to examine the brain development of children with Angelman syndrome.
ELARA Open-Label Extension Study
Open to participants who completed any prior OV101 study, including the STARS study. This study will assess long term safety and tolerability in addition to efficacy measures. Contact your STARS site for details.
Angelman Syndrome Natural History Study
This study at Boston Children’s and the ASF AS Clinic at Rady Children’s Hospital, San Diego will help better our understanding of how development, behavior and communication change in individuals with AS over the course of their lives.
A non-medication research interview study seeking information about symptoms and effects on daily life that children and adults with Angelman Syndrome experience, from the caregiver’s perspective. Participants agree to a 60-90 minute telephone interview.
Caregivers of Children, Adolescents & Adults with AS
This is an interview study to gather information about caregivers’ experiences with Angelman syndrome (AS) to better understand the symptoms and impacts of AS. The study is sponsored by Ovid Therapeutics, and conducted by ICON, a health research organization.
Augmentative and Alternative Communication (AAC) Immersion Project
This study at Portland State University will evaluate the impact of communication partner coaching in Augmentative and Alternative Communication (AAC) intervention.
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 and deletions of human chromosome 15q.
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 while recording his/her physiological activity. They will also ask parents to complete surveys about your experiences as a parent and about your child’s interests in music and other arts activities.
Longitudinal study of how children with AS develop over time
The Purdue Neurodevelopmental Family Lab at Purdue University is recruiting participants nationwide for a research study on the early development of children with Angelman syndrome. Families of children ages birth to 48 months complete online forms and optional phone interviews annually for 3+ years. The surveys and interviews cover topics about general child development (e.g. thinking, motor, social skills), medical needs, problem behaviors, and child strengths.