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Sirolimus Effect on Hypertrophic Syndromes Related Gene PIK3CA (PROMISE)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02443818
Recruitment Status : Completed
First Posted : May 14, 2015
Last Update Posted : October 2, 2018
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon

Study Description
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Brief 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).


Condition or disease Intervention/treatment Phase
Segmental Overgrowth Disorders Due to PIK3CA Drug: Sirolimus Phase 2

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).

Study Design
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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 16 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
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

Resource links provided by the National Library of Medicine

Drug Information available for: Sirolimus

Arms and Interventions
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Intervention Details:
  • Drug: Sirolimus
    Low dose sirolimus will be given in daily dosing to achieve trough levels of 2-6 ng/ ml.

Outcome Measures
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Primary Outcome Measures :
  1. 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 ]

Secondary Outcome Measures :
  1. Measure sites of overgrowth by DXA, MRI and circumferential measurements [ Time Frame: Change from baseline at 6 and 12 months ]
  2. To determine optimal sirolimus dosing algorithms by plasma assay [ Time Frame: 12 months ]
  3. Number of hospitalisation and surgery [ Time Frame: 12 months ]
  4. 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


Eligibility Criteria
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Ages Eligible for Study:   3 Years to 65 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Contacts and Locations
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Information from the National Library of Medicine

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


Locations
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France
CHU d'Angers
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
Sponsors and Collaborators
Centre Hospitalier Universitaire Dijon
More Information
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Responsible Party: Centre Hospitalier Universitaire Dijon
ClinicalTrials.gov Identifier: NCT02443818    
Other Study ID Numbers: OLIVIER-FAIVRE Sirolimus
First Posted: May 14, 2015    Key Record Dates
Last Update Posted: October 2, 2018
Last Verified: October 2018
Additional relevant MeSH terms:
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Sirolimus
Anti-Bacterial Agents
Anti-Infective Agents
Antibiotics, Antineoplastic
Antineoplastic Agents
 Antifungal Agents
Immunosuppressive Agents
Immunologic Factors
Physiological Effects of Drugs