NCT02443818

Sirolimus Effect on Hypertrophic Syndromes Related Gene PIK3CA

Non-randomised Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Due to PIK3CA- Related Overgrowth

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 16 (actual)
• Sponsor: Centre Hospitalier Universitaire Dijon · Academic / Other
• Sex: All
• Age: 3 Years – 65 Years
• Healthy volunteers: Not accepted

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).

Detailed description

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

• Segmental Overgrowth Disorders Due to PIK3CA

Interventions

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

Timeline

• Start date: 2015-05-01
• Primary completion: 2016-11-01
• Completion: 2016-11-01
• First posted: 2015-05-14
• Last updated: 2025-11-21

Locations

11 sites across 1 country: France