Sirolimus Effect on Hypertrophic Syndromes Related Gene PIK3CA (PROMISE)
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|ClinicalTrials.gov Identifier: NCT02443818|
Recruitment Status : Completed
First Posted : May 14, 2015
Last Update Posted : October 2, 2018
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).
|Condition or disease||Intervention/treatment||Phase|
|Segmental Overgrowth Disorders Due to PIK3CA||Drug: Sirolimus||Phase 2|
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).
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||16 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Non-randomised Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Due to PIK3CA- Related Overgrowth|
|Study Start Date :||May 2015|
|Actual Primary Completion Date :||November 2016|
|Actual Study Completion Date :||November 2016|
- Drug: Sirolimus
Low dose sirolimus will be given in daily dosing to achieve trough levels of 2-6 ng/ ml.
- Measure of the relative percentage of the excess tissue volume evolution at the affected site by volumetric MRI. [ Time Frame: Change from baseline at 6 and 12 months ]
- Measure sites of overgrowth by DXA, MRI and circumferential measurements [ Time Frame: Change from baseline at 6 and 12 months ]
- To determine optimal sirolimus dosing algorithms by plasma assay [ Time Frame: 12 months ]
- Number of hospitalisation and surgery [ Time Frame: 12 months ]
- quality of life measured by a questionnaire in the pre- and post-treatment periods [ Time Frame: At 6 and 12 months ]The WHO-QOL-BREF questionnaire will be used for adults. For children, PedsQL™ questionnaire for children and parents report for children questionnaires will be used
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02443818
|Angers, France, 49933|
|CHU de Bordeaux - GH Pellegrin|
|Bordeaux, France, 33076|
|CHU de DIJON|
|Dijon, France, 21079|
|Hôpital Jeanne de Flandre|
|Lille, France, 59037|
|CHRU de Montpellier - Hôpital Saint-Eloi|
|Montpellier, France, 34295|
|Hopitaux de Brabois Chu Nancy|
|Nancy, France, 54511|
|Hôpital mère-enfant de Nantes|
|Nantes, France, 44093|
|CHU Paris - Necker|
|Paris, France, 75015|
|HCL Lyon - CH Lyon Sud|
|Pierre-Bénite, France, 69495|
|Pôle Cardiovasculaire et Métabolique - Hôpital Larrey|
|Toulouse, France, 31059|
|CHRU de Tours|
|Tours, France, 37044|