Assessing the effectiveness of rapamycin on angiomyolipoma in tuberous sclerosis: a two years trial

Tuberous sclerosis (TS) is a rare autosomal dominant systemic disease with an estimated prevalence of 1/6000. Renal angiomyolipoma (AML) is a benign tumour with high morbidity frequently present in TS. The aim of the study was to test the effect of rapamycin in reducing the volume of AML in TS. Twen...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2012-11, Vol.7 (1), p.87-87, Article 87
Main Authors: Cabrera-López, Cristina, Martí, Teresa, Catalá, Violeta, Torres, Ferran, Mateu, Silvia, Ballarín, Jose, Torra, Roser
Format: Article
Language:English
Subjects:
Adult
Analysis
Angiomyolipoma
Angiomyolipoma - complications
Angiomyolipoma - drug therapy
Antibiotics, Antineoplastic - adverse effects
Antibiotics, Antineoplastic - therapeutic use
Dermatologic agents
Dermatology
Female
Formulae, receipts, prescriptions
Health aspects
Humans
Male
Medical research
Medicine, Experimental
mTOR
Prospective Studies
Rapamycin
Rare diseases
Sirolimus - adverse effects
Sirolimus - therapeutic use
Skin
Treatment
Treatment Outcome
Tuberous sclerosis
Tuberous Sclerosis - complications
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Summary:Tuberous sclerosis (TS) is a rare autosomal dominant systemic disease with an estimated prevalence of 1/6000. Renal angiomyolipoma (AML) is a benign tumour with high morbidity frequently present in TS. The aim of the study was to test the effect of rapamycin in reducing the volume of AML in TS. Twenty four-month prospective open-label, single arm, unicentre Phases II andIII study. The primary endpoint was to evaluate the effect of treatment on the reduction of at least 50% AML volume from baseline at 24 months. The secondary endpoints were: average tumour reduction, surgical complications, skin lesions and drug safety.The study population comprised 17 patients, aged >10 years who were diagnosed with TS and had ≥1 renal AML >2 cm of diameter and had a serum creatinine < 2mg/dl and urine protein/creatinine ratio < 22.6 mg/mmol. The trial was conducted at Fundació Puigvert. Rapamycin was given to achieve stable plasma levels between 4 and 8 ng/ml. AML volume was estimated using orthogonal measurements by MRI at baseline, 6, 12 and 24 months. Ten out of 17 patients were success responders for the main outcome -58.8%, 95%CI: 32.9% to 81.6%-. After 6 months of therapy, the mean volume decrease was 55.18% (5.01 standard error (SE); p
ISSN:1750-1172
1750-1172
DOI:10.1186/1750-1172-7-87