Tuberous Sclerosis is a genetic disorder characterised by the development of tumours in many organs, including the skin and kidneys. It can also affect the brain, leading to epilepsy and often ADHD and autism. Many symptoms associated with tuberous sclerosis are incredibly difficult to treat.
But in recent trials a drug called Everolimus has proven very effective shrinking kidney growths and brain tumours in many people with tuberous sclerosis.
Chief Investigator of the study, Professor Julian Sampson of the Institute of Medical Genetics at Cardiff University explained the potential benefits of this drug:
“This research is one of the first clinical trials to assess whether a drug can improve brain function in people with an inherited disorder.
“The potential benefits of this treatment include an improved quality of life for affected patients and wider benefits for their families and carers
“If it works it will benefit patients directly and could provide clues as to whether this class of drugs (called mTOR inhibitors) might have wider benefits in problems like autism.”
According to research, brain-related problems were rated as the most significant disease manifestations by patients and families because of their everyday impact on education, employment, family and social life. These problems occur in the majority of individuals with Tuberous Sclerosis – even for those 50% of patients with IQ in the normal range (>70).
The trial is being co-ordinated by the South East Wales Trials Unit, in the School of Medicine at Cardiff University. Patients are being recruited from across the UK through the network of regional clinical genetics centres.
The trial is open to people with tuberous sclerosis aged 16 to 60 years. Trial participants must have reasonably controlled epilepsy or not suffer with fits, and be able to participate in the neuropsychological assessments that test memory and thinking. For those interested in participating in the trial, email firstname.lastname@example.org.
The research is being jointly funded by Novartis Pharmaceuticals , the Wales Gene Park and the Tuberous Sclerosis Association.