Is there a cure?
Not at the moment, but researchers are working on it. Some symptoms can be treated. The condition is permanent but is not degenerative. Angelman syndrome children can look forward to a normal lifespan.
Studies have identified an Angelman syndrome gene on chromosome 15.
Research is continuing worldwide on the complex genetics of Angelman syndrome to better understand why it occurs. Males and females are affected equally. When children with Angelman syndrome are observed and studied, many educational and behavioural interventions have been shown to be effective in the areas of communication, behaviour modification, sleep disturbance, general conduct and social skilling.
Physical and occupational therapies, speech and language intervention assist Angelman syndrome children.
The Angelman Registry is a tool to help medical professionals and researchers learn more about individuals with Angelman Syndrome (AS). The Registry will create new opportunities to gain insight and understanding about AS, providing an important tool for both facilitating research and enabling clinical trial sponsors to quickly identify suitable patients for each study.
The Registry is a global initiative that will collect data on individuals with AS through a series of online surveys in order to build the largest and most comprehensive global collection of information on Angelman Syndrome to date.
This is your chance to share your experiences with Angelman Syndrome and be a part of building knowledge for a brighter future for those with Angelman Syndrome.
Discovering therapeutics that alleviate one or more symptoms of Angelman syndrome. Read more here
Low carbohydrate diets such as the ketogenic (KD) and low glycemic index (LGIT) diets have been shown to be effective in treating drug resistant seizures in children with Angelman syndrome (AS). The investigators hypothesize that consuming a fat based nutritional formulation with an exogenous ketone throughout the day will produce urinary ketosis in children consuming both low and high carbohydrate diets, depending upon dietary background. The nutritional formulation will provide fuel substrates that push metabolism away from carbohydrates and towards fat utilization. This research is being done to assess the safety and tolerability of a nutritional formulation for use in dietary interventions in AS. Learn more here.
This clinical study is for children with Angelman Syndrome aged between 1 and 12 years old, and will test the safety of a new investigational therapy and study the way the body processes the study medication. The study will measure the impact of the investigational therapy using various clinical scales. Learn more here.
An Open-Label Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of OV101 in Individuals With Angelman Syndrome (ELARA. Learn more here.