Ignite Creation Date:
2025-12-25 @ 5:03 AM
Ignite Modification Date:
2026-02-22 @ 9:00 AM
Study NCT ID:
NCT02443818
Status:
COMPLETED
Last Update Posted:
2025-11-21
First Post:
2015-05-04
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Sirolimus Effect on Hypertrophic Syndromes Related Gene PIK3CA
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'interventionBrowseModule': {'meshes': [{'id': 'D020123', 'term': 'Sirolimus'}], 'ancestors': [{'id': 'D018942', 'term': 'Macrolides'}, {'id': 'D007783', 'term': 'Lactones'}, {'id': 'D009930', 'term': 'Organic Chemicals'}]}}, 'protocolSection': {'designModule': {'phases': ['PHASE2'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'TREATMENT', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 16}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2015-05'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-11', 'completionDateStruct': {'date': '2016-11', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-11-18', 'studyFirstSubmitDate': '2015-05-04', 'studyFirstSubmitQcDate': '2015-05-11', 'lastUpdatePostDateStruct': {'date': '2025-11-21', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2015-05-14', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2016-11', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Measure of the relative percentage of the excess tissue volume evolution at the affected site by volumetric MRI.', 'timeFrame': 'Change from baseline at 6 and 12 months'}], 'secondaryOutcomes': [{'measure': 'Measure sites of overgrowth by DXA, MRI and circumferential measurements', 'timeFrame': 'Change from baseline at 6 and 12 months'}, {'measure': 'To determine optimal sirolimus dosing algorithms by plasma assay', 'timeFrame': '12 months'}, {'measure': 'Number of hospitalisation and surgery', 'timeFrame': '12 months'}, {'measure': 'quality of life measured by a questionnaire in the pre- and post-treatment periods', 'timeFrame': 'At 6 and 12 months', 'description': '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'}]}, 'conditionsModule': {'conditions': ['Segmental Overgrowth Disorders Due to PIK3CA']}, 'referencesModule': {'references': [{'pmid': '30270358', 'type': 'RESULT', 'citation': 'Parker VER, Keppler-Noreuil KM, Faivre L, Luu M, Oden NL, De Silva L, Sapp JC, Andrews K, Bardou M, Chen KY, Darling TN, Gautier E, Goldspiel BR, Hadj-Rabia S, Harris J, Kounidas G, Kumar P, Lindhurst MJ, Loffroy R, Martin L, Phan A, Rother KI, Widemann BC, Wolters PL, Coubes C, Pinson L, Willems M, Vincent-Delorme C; PROMISE Working Group; Vabres P, Semple RK, Biesecker LG. Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum. Genet Med. 2019 May;21(5):1189-1198. doi: 10.1038/s41436-018-0297-9. Epub 2018 Oct 1.'}]}, 'descriptionModule': {'briefSummary': '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.\n\nThis 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).', 'detailedDescription': 'The duration of participation is 15 months:\n\n* Visit screening: blood test, pre-clinical evaluation, urine collection and chest X-ray.\n* 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).\n* 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.\n\nand 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.\n\nParticipants will have several blood and urine tests between visits (1 and 2 weeks after the start of treatment at a local laboratory).'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '65 Years', 'minimumAge': '3 Years', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\n* Post-zygotic PIK3CA mutation\n* Age: 3-65 years\n* Measurable overgrowth, in current progression or with clinical history of overgrowth progression\n* Patient clinically stable\n* Presence of a disability, social or cosmetic impairment requiring treatment from the patient perspective,\n* Written informed consent form signed and dated by the subject or by the patient's legal representative\n\nExclusion Criteria:\n\n* Pregnancy or lactation\n* Women and men of reproductive age without any effective method of contraception (during treatment and up to 12 weeks after sirolimus discontinuation)\n* Hypersensitivity to the active substance (sirolimus) or to any of the excipients\n* Impossibility to obtain written informed consent form signed by the subject or the patient's legal representative, or vulnerable adults\n* Treatment with Sirolimus in the last 4 weeks before the trial\n* Personal history of malignancy or current investigations for suspected malignancy\n* Active skin infection requiring antibiotics or antiviral treatments\n* HIV or hepatitis B or C infection\n* Past history of Mycobacterium tuberculosis infection\n* Active pneumopathy\n* Uncontrolled infection\n* Chronic liver disease (ASAT or Alanine amino transférase (ALAT)\\> 3 times upper normal limit)\n* Stage 3 (or more) chronic renal insufficiency (eGFR\\< 60mls/min)\n* Neutropenia with neutrophiles \\< 1.0 x10\\^9/L\n* Uncontrolled dyslipidemia\n* Inability to attend study visits"}, 'identificationModule': {'nctId': 'NCT02443818', 'acronym': 'PROMISE', 'briefTitle': 'Sirolimus Effect on Hypertrophic Syndromes Related Gene PIK3CA', 'organization': {'class': 'OTHER', 'fullName': 'Centre Hospitalier Universitaire Dijon'}, 'officialTitle': 'Non-randomised Open Label Pilot Study of Sirolimus Therapy for Segmental Overgrowth Due to PIK3CA- Related Overgrowth', 'orgStudyIdInfo': {'id': 'OLIVIER-FAIVRE Sirolimus'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Sirolimus', 'type': 'DRUG', 'description': 'Low dose sirolimus will be given in daily dosing to achieve trough levels of 2-6 ng/ ml.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '49933', 'city': 'Angers', 'country': 'France', 'facility': "CHU d'Angers", 'geoPoint': {'lat': 47.47156, 'lon': -0.55202}}, {'zip': '33076', 'city': 'Bordeaux', 'country': 'France', 'facility': 'CHU de Bordeaux - GH Pellegrin', 'geoPoint': {'lat': 44.84124, 'lon': -0.58046}}, {'zip': '21079', 'city': 'Dijon', 'country': 'France', 'facility': 'CHU de DIJON', 'geoPoint': {'lat': 47.31344, 'lon': 5.01391}}, {'zip': '59037', 'city': 'Lille', 'country': 'France', 'facility': 'Hôpital Jeanne de Flandre', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}, {'zip': '34295', 'city': 'Montpellier', 'country': 'France', 'facility': 'CHRU de Montpellier - Hôpital Saint-Eloi', 'geoPoint': {'lat': 43.61093, 'lon': 3.87635}}, {'zip': '54511', 'city': 'Nancy', 'country': 'France', 'facility': 'Hopitaux de Brabois Chu Nancy', 'geoPoint': {'lat': 48.68439, 'lon': 6.18496}}, {'zip': '44093', 'city': 'Nantes', 'country': 'France', 'facility': 'Hôpital mère-enfant de Nantes', 'geoPoint': {'lat': 47.21725, 'lon': -1.55336}}, {'zip': '75015', 'city': 'Paris', 'country': 'France', 'facility': 'CHU Paris - Necker', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '69495', 'city': 'Pierre-Bénite', 'country': 'France', 'facility': 'HCL Lyon - CH Lyon Sud', 'geoPoint': {'lat': 45.70359, 'lon': 4.82424}}, {'zip': '31059', 'city': 'Toulouse', 'country': 'France', 'facility': 'Pôle Cardiovasculaire et Métabolique - Hôpital Larrey', 'geoPoint': {'lat': 43.60426, 'lon': 1.44367}}, {'zip': '37044', 'city': 'Tours', 'country': 'France', 'facility': 'CHRU de Tours', 'geoPoint': {'lat': 47.39484, 'lon': 0.70398}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Centre Hospitalier Universitaire Dijon', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}