Segmental Overgrowth Disorders Due to PIK3CA Clinical Trial
Official title:
Non-randomised Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Due to PIK3CA- Related Overgrowth
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).
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).
;