Symptoms and General Pathology

All Conditions

Diseases and Abnormalities at or Before Birth

Skin and Connective Tissue Diseases

Neoplasms

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Rare Diseases

Syndrome

Congenital Abnormalities

Blister

Nevus, Pigmented

Nevus

Gastrointestinal Neoplasms

Digestive System Neoplasms

Skin Neoplasms

Nevus, Blue

Melanoma

Nevi and Melanomas

Neoplasms by Histologic Type

Gastrointestinal Diseases

Skin Diseases

Blue Rubber Bleb Nevus Syndrome

Anti-Infective Agents

Antineoplastic Agents

All Drugs and Chemicals

Sirolimus

Temsirolimus

MTOR Inhibitors

Anti-Bacterial Agents

Antibiotics, Antitubercular

Clotrimazole

Miconazole

Antifungal Agents

Immunosuppressive Agents

Immunologic Factors

For children: rapamycin, 1 mg per square meter of body surface area a day, orally, for at least 6 months For adults: rapamycin, 2 mg a day, orally, for at least 6 months

Rapamycin

Jiaolin Zhou, MD

A prospective, nonrandomized, open-label, single-arm clinical trial to study efficacy of rapamycin (sirolimus) in the treatment of Blue Rubber Bleb Nevus Syndrome, hereditary or sporadic venous malformation

Blue rubber bleb nevus syndrome (BRBNS) and venous malformation are mainly caused by somatic mutation of TEK and PIK3CA, which activates the PI3K/AKT signaling pathway. As an important protein kinase downstream of the PI3K/AKT pathway, mTOR can serve as a potential therapeutic target for BRBNS. Experiments of mice have shown that rapamycin inhibited the progression of venous malformation lesions. There are a few human cases reported using rapamycin treatment. The investigator's study is designed to be a prospective, nonrandomized, open-label, single-arm clinical trial to investigate its efficacy and safety.

Efficacy of Rapamycin (Sirolimus) in the Treatment of BRBNS, Hereditary or Sporadic Venous Malformation

Efficacy of Rapamycin (Sirolimus) in the Treatment of Blue Rubber Bleb Nevus Syndrome, Hereditary or Sporadic Venous Malformation

lesion load (cm2) = A + B + C. A = sum of the product of maximum diameter and maximum height of the largest 3 lesions shown by chest, abdomen and pelvis MRI or small bowel CT reconstruction (in cm2) B = sum of the product of maximum diameter and maximum height of the largest 3 lesions shown by digestive endoscope (in cm2) C = sum of the product of maximum diameter and maximum height of the largest 3 lesions shown by ultrasound (in cm2) Remarks: 1. If it is impossible to evaluate 3 or more lesions, results of the actual number of lesions should be taken as valid; 2. Lesions evaluated should be correspondent before and after treatment. If the lesion is difficult to assess after treatment, it should be ruled out from the assessment.

The value indicates the amount of gastrointestinal bleeding.

The value indicates the amount of gastrointestinal bleeding

The value indicates the extent of local coagulation caused by Venous Malformation lesions.

Air Force General Hospital of the PLA

Chinese Academy of Medical Sciences

Peking Union Medical College Hospital

Spots Global Cancer Trial Database for blue rubber bleb nevus syndrome