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This study evaluated Sirolimus in patients with segmental overgrowth caused by a somatic mutation in the PIK3CA gene. It enrolled patients aged 3-65 with a confirmed PIK3CA somatic mutation and progressive overgrowth. It was a Phase 2 study and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
* INCLUSION CRITERIA:
* Age: greater than or equal to 3 years to less than or equal to 65 years
* Male or Female
* Confirmed PIK3CA somatic mutation
* Measurably progressive overgrowth, in current progression or with clinical history of overgrowth progression
* Adequate Bone Marrow Function Defined as:
* Peripheral absolute neutrophil count (ANC) greater than or equal to 1500/microliter, except for those participants with an absolute neutrophil count (ANC) of 1000-1500, caused by a benign condition associated with moderately decreased neutrophils known as Benign Ethnic Neutropenia (BEN), d those who have an ANC of 1000-1500 caused by a confirmed infection, which resolves with treatment of infection to greater than or equal to 1500.
* Platelet count less than or equal to 100,000/microliter
* Hemoglobin less than or equal to 10.0 gm/dL
* Adequate Renal Function Defined as:
* A serum creatinine based on age as follows:
* Age (years) \[Maximum Serum Creatinine (mg/dl)\]
* Less than or equal to 5 \[0.8 mg/dl\]
* 5 less than age less than or equal to10 \[1.0 mg/dl\]
* 10 less than age less than or equal to 15 \[1.2 mg/dl\]
* Less than 15 \[1.5 mg/dl\]
* OR a creatinine clearance or radioisotope GFR greater than or equal to 70ml/min/1.73 m2
* Adequate Liver Function Defined As:
* Bilirubin (sum of conjugated + unconjugated) less than or equal to 1.5 x upper limit of normal (ULN) for age, and
* SGPT (ALT) less than or equal to 5 x upper limit of normal (ULN) for age, and
* Serum albumin greater than or equal to 2 g/dL.
* Fasting LDL Cholesterol:
* Patients must have a fasting LDL cholesterol of less than or equal to 160 mg/d
* All women of childbearing potential and all sexually active male patients must agree to use effective contraception
* Adolescent (15-17 year old) participants who are fluent in English and can thereby complete the pediatric self-report questionnaires and communicate well with the study team but whose parent(s) and/or legal guardian are primarily Spanish-speaking.
EXCLUSION CRITERIA:
The participant may not enter the study if ANY of the following apply:
* Age less than 3 years or greater than 65 years
* Pregnant or breastfeeding
* Women and men of reproductive age without an effective method of contraception (during treatment and up to 12 weeks after sirolimus discontinuation)
* Hypersensitivity to sirolimus or any of the excipients
* Any current medical disorder or medication likely to impair ability to follow the study protocol safely and effectively
* Incapacity to give informed consent
* Sirolimus treatment in the prior 4 weeks
* If less than 3 months post-surgery
* Prior malignancy or ongoing investigations for malignancy
* Active skin infections requiring antibiotics or anti-viral medication
* HCV/HBV/HIV seropositivity
* Previous/ active MTB infection
* Pneumonitis
* Research radiation exposure within previous 12 months
* Adult participants or participants under the age of 15 years with insufficient English language proficiency to complete informed consent and quality of life measures
We propose to restrict participation in this study to those with sufficient English language skills to complete the quality of life measures we will employ among all three study sites, as many of the specific quality of life measures we are employing at the NIH only are not available in other languages.