Cannabidiol (also known as Epidyolex) is a medicine derived from the cannabis plant. It is used to help reduce behavioral problems such as irritability and other difficult behaviors in patients. In this trial, it is being tested to see if it can improve behavior in people with certain genetic conditions.

Tuberous Sclerosis Complex – Tuberous Sclerosis Complex is a genetic disorder that causes non-cancerous tumors to grow in various organs throughout the body, most commonly in the brain, skin, kidneys, heart, and lungs. The condition is present from birth and results from changes in specific genes that control cell growth and division. People with this condition often experience seizures, developmental delays, and behavioral problems including irritability and autism-like symptoms. Skin abnormalities such as light-colored patches and thickened areas may appear during childhood. The severity of symptoms varies widely from person to person, with some individuals experiencing mild effects while others have more significant challenges. Brain tumors associated with this condition can lead to learning difficulties and problems with thinking and reasoning skills.

Sanfilippo Syndrome – Sanfilippo syndrome is a rare inherited metabolic disorder where the body cannot break down certain complex sugar molecules called heparan sulfate. This occurs because the body lacks or has insufficient amounts of specific enzymes needed to process these molecules. As heparan sulfate builds up in cells throughout the body, it particularly affects the brain and nervous system. Children with this condition typically develop normally for the first few years of life before symptoms begin to appear. Behavioral problems including hyperactivity, aggression, irritability, and sleep disturbances are common features of the condition. As the condition advances, affected individuals experience progressive loss of skills they had previously learned, including speech and motor abilities.

Fragile X Syndrome – Fragile X syndrome is a genetic condition that affects brain development and is the most common inherited cause of intellectual disability and autism. The condition results from changes in a specific gene on the X chromosome that produces a protein necessary for normal brain development. Children with this syndrome often show delayed development in speech, language, and motor skills during early childhood. Behavioral characteristics include anxiety, hyperactivity, attention problems, and irritability, with many individuals also displaying features associated with autism spectrum disorder. Physical features may include a long face, large ears, and flexible joints, though these become more noticeable with age. The severity of symptoms varies considerably, with males typically more severely affected than females.