RAD001 in the treatment of Angiomyolipoma in TSC or LAM patients
Research type
Research Study
Full title
A randomised, double-blind, placebo-controlled study of RAD001 in the treatment of angiomyolipoma in patients with either tuberous sclerosis complex (TSC) or sporadic lymphangioleiomyomatosis (LAM)
IRAS ID
17156
Contact name
John C Kingswood
Sponsor organisation
Novartis Pharma Services AG
Eudract number
2008-002113-48
Clinicaltrials.gov Identifier
Research summary
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that causes benign (non-cancerous) tumours to grow in the brain and other vital organs. TSC is caused by genetic mutations within one of two genes which code for cell growth control proteins. Tumour growths within the brain can result in seizures, autism, learning disability and epilepsy. Lymphangioleiomyomatosis (LAM) is a rare lung disease, affecting women, whereby numerous benign tumours can grow causing obstruction of the airways and lymph system. Around one third of women with TSC have TSC-associated LAM, however the sporadic form occurs in female patients with no evidence of TSC. Angiomyolipomas (AMLs) are lesions occurring in the kidneys of some patients with LAM and are also the manifestation of TSC in the kidneys. The majority of afflicted adult patients have multiple lesions in both kidneys, often asymptomatic but can cause life-threatening haemorrhage or impaired kidney function. Current therapies for AMLs focus on reducing pain and haemorrhaging (bleeding) symptoms. Surgery aims at cutting off the blood flow to solitary lesions however if multiple lesions are present, or their blood supply cannot be isolated, this is problematic. Preservation of normal kidney tissue is paramount for preventing kidney failure; complete removal of the kidney is only undertaken as a last resort. RAD001 is currently used to prevent organ rejection in patients with kidney and cardiac transplantation. RAD001 is also being investigated as an anti-cancer agent, based on its potential to act as an inhibitor of cell division and cell growth. Novartis Pharmaceuticals is sponsoring a study to evaluate the anti-tumour activity of RAD001 versus a placebo in patients with AMLs with TSC or sporadic LAM. This is a placebo-controlled, double-blind study meaning the patient will be randomly allocated to receive active drug (RAD001) or dummy drug (placebo), neither the patient nor the study doctor will know which treatment is allocated. Should a patient progress whilst on study the investigator can proceed to find out which treatment they have been receiving, if the patient has been receiving placebo they can be offered further treatment with RAD001. Approximately 25 sites worldwide will be participating.
REC name
South Central - Hampshire A Research Ethics Committee
REC reference
09/H0502/82
Date of REC Opinion
6 Aug 2009
REC opinion
Further Information Favourable Opinion