About Angelman Syndrome
AS Genotypes: Mutation
In these individuals, a mutation in the UBE3A gene prevents its expression or function.
All the pharmaceutical companies in our space have stated that they want to have the most consistent group for the earliest phases of clinical trials (Phase 1/2), and in many cases they want the most severely affected to start with. That is generally considered deletions, but certain trials are also enrolling mutations.
Two of the current clinical trials are enrolling patients with AS mutations. Visit this page to learn more about them.
Connect with other AS Mutation families by writing to us here: firstname.lastname@example.org.