Sirolimus Effect on Hypertrophic Syndromes Related Gene PIK3CA

• Status: Completed
• Trial end date: 2016-11-01
• Target enrollment: 0
• Participant gender: All

Summary

It was found that people who have an excessive growth in one or more parts of their body and normal growth in other parts, may have a change in genes responsible for controlling cell growth. This genetic discovery identified a possible treatment for this overgrowth, called Sirolimus.

This is a pilot study, which help the investigators prepare a larger international study, which will aim to determine whether a treatment based Sirolimus is able to stop the excessive growth of one or more parties of their body in people who carry a genetic change in the PIK3CA gene (phosphatidylinosilol-3-kinase encoded by the gene PIK3CA).

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Centre Hospitalier Universitaire Dijon
• Treatments: Everolimus; Sirolimus

Criteria

Inclusion Criteria:

• Post-zygotic PIK3CA mutation

• Age: 3-65 years

• Measurable overgrowth, in current progression or with clinical history of overgrowth progression

• Patient clinically stable

• Presence of a disability, social or cosmetic impairment requiring treatment from the patient perspective,

• Written informed consent form signed and dated by the subject or by the patient's legal representative

Exclusion Criteria:

• Pregnancy or lactation

• Women and men of reproductive age without any effective method of contraception (during treatment and up to 12 weeks after sirolimus discontinuation)

• Hypersensitivity to the active substance (sirolimus) or to any of the excipients

• Impossibility to obtain written informed consent form signed by the subject or the patient's legal representative, or vulnerable adults

• Treatment with Sirolimus in the last 4 weeks before the trial

• Personal history of malignancy or current investigations for suspected malignancy

• Active skin infection requiring antibiotics or antiviral treatments

• HIV or hepatitis B or C infection

• Past history of Mycobacterium tuberculosis infection

• Active pneumopathy

• Uncontrolled infection

• Chronic liver disease (ASAT or Alanine amino transférase (ALAT)> 3 times upper normal limit)

• Stage 3 (or more) chronic renal insufficiency (eGFR< 60mls/min)

• Neutropenia with neutrophiles < 1.0 x10^9/L

• Uncontrolled dyslipidemia

• Inability to attend study visits