Sirolimus Effect on Hypertrophic Syndromes Related Gene PIK3CA

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE2

Total Enrollment

16 participants

Study Classification

INTERVENTIONAL

Study Start Date

2015-05-31

Study Completion Date

2016-11-30

Brief Summary

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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).

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Detailed Description

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The duration of participation is 15 months:

* Visit screening: blood test, pre-clinical evaluation, urine collection and chest X-ray.
* First 6 months: participants will have their overgrowth monitored. This step includes 2 visits taking place at the University Hospital of Dijon: complete clinical evaluation, MRI of the body part by the overgrowth and Dual-energy X-ray absorptiometry (DXA).
* Next 6 months: participants will take Sirolimus. This step includes 2 visits (4 and 13 weeks after the start of treatment at local hospital): blood test, urine collection and clinical evaluation.

and 1 end of study visit after 6 months of treatment taking place at the University Hospital of Dijon: blood test, complete clinical evaluation, urine collection, MRI and DXA.

Participants will have several blood and urine tests between visits (1 and 2 weeks after the start of treatment at a local laboratory).

Conditions

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Segmental Overgrowth Disorders Due to PIK3CA

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Interventions

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Sirolimus

Low dose sirolimus will be given in daily dosing to achieve trough levels of 2-6 ng/ ml.

Intervention Type DRUG

Eligibility Criteria

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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

Minimum Eligible Age

3 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No