NCT00490789

Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM

A Trial of the Efficacy and Safety of Sirolimus(Rapamycin)Therapy for Renal Angiomyolipmoas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis

• Status: Unknown
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 14 (estimated)
• Sponsor: Cardiff University · Academic / Other
• Sex: All
• Age: 18 Years – 65 Years
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to determine the safety and efficacy of the mTOR inhibitor sirolimus as a treatment for renal angiomyolipomas in patients with tyberous sclerosis complex or sporadic lymphangioleiomyomatosis.

Detailed description

Inherited mutations of the TSC1 or TSC2 gene cause tuberous sclerosis while acquired (somatic) mutations of either gene are associated with sporadic lymphangioleiomyomatosis (LAM). Renal angiomyolipomas are a feature of both disorders. TSC1 and TSC2 regulate signalling through the mammalian target of rapamycin (mTOR) pathway. Inhibition of mTOR may result in a decrease in size of TSC 1/2 assciated lesions. We are treating patients with tuberous sclerosis or sporadic LAM with the mTOR inhibitor rapamycin in a non-randomised, open label pilot study of safety and efficacy. Change in size of renal angiomyolipomas is the primary end point

Conditions

• Tuberous Sclerosis
• Lymphangioleiomyomatosis

Interventions

Type	Name	Description
DRUG	sirolimus	daily oral sirolimus with dosage individualised by trough blood levels

Timeline

• Start date: 2005-10-01
• Primary completion: 2009-09-01
• Completion: 2009-09-01
• First posted: 2007-06-25
• Last updated: 2008-04-30

Locations

3 sites across 1 country: United Kingdom