[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"familial-partial-lipodystrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:familial-partial-lipodystrophy":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,45,75],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":30,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100624622","identification-of-women-with-severe-insulin-resistant-syndromes-of-genetic-origin-among-patients-with-classic-polycystic-ovary-syndrome-pcos-100624622",false,"NCT07412028","Identification of Women With Severe Insulin Resistant Syndromes of Genetic Origin Among Patients With \"Classic\" Polycystic Ovary Syndrome (PCOS)","ANDROLIPO","Inclusion Criteria:\n\n* Women aged ≥ 18 years and \\\u003C 45 years ;\n* Discontinuation of estrogen-progestin therapyfor at least 3 months ;\n* Signed informed consent ;\n* Social security affiliation.\n\nCase (n=25):\n\n\\- Patient with a lipodystrophic syndrome due to a known pathogenic variant of the LMNA gene.\n\nControl (n=50), :\n\n\\- patient consulting for polycystic ovary syndrome (PCOS according to the Rotterdam criteria) in day hospital matched on age +\u002F-5 years and BMI+\u002F-5 kg\u002Fm2.\n\nExclusion Criteria:\n\n* \\- Severe renal insufficiency (GFR \\\u003C 30 ml\u002Fmin) ;\n* Hepato-cellular insufficiency (TP \\\u003C 50%) ;\n* Taking corticosteroids or antiretrovirals ;\n* Menopausal women ;\n* Taking estrogen-progestin therapy;\n* Diabetic patients on insulin : type 1 diabetes or pancreatectomised patients\n* Other known causes of hyperandrogenism (21-hydroxylase block, Cushing's syndrome, ovarian tumor).\n* Pregnant woman\n* Breastfeeding woman","FEMALE","18 Years","45 Years",{"count":20,"type":21},81,"ESTIMATED","INTERVENTIONAL",[24],"NA","Diagnostic case-control study (1 case for 2 controls). Inclusion of patients with severe insulin resistance syndrome of genetic origin, then inclusion of controls: patients examined for PCOS in day hospital with matching age (+\u002F- 5 years) and Body mass index (+\u002F- 5kg\u002Fm2).",[27,28,29],"Polycystic Ovary Syndrome","Familial Partial Lipodystrophy","LMNA (LaMin Nuclear A) Related Disorders",[27,28,31],"LMNA related disorders","NOT_YET_RECRUITING","2026-02-13",{"date":35,"type":36},"2026-02-17","ACTUAL",{"date":38,"type":21},"2026-02",{"date":40,"type":21},"2027-09",{"name":42,"class":43},"Assistance Publique - Hôpitaux de Paris","OTHER",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":52,"minAge":53,"maxAge":4,"enrollmentInfo":54,"targetDuration":4,"studyType":22,"phases":56,"briefSummary":58,"conditions":59,"keywords":60,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":69,"leadSponsor":71,"locationsCount":74},"100568288","phase-3-open-label-extension-study-to-evaluate-metreleptin-in-patients-with-partial-lipodystrophy-100568288","NCT06679270","Open-label Extension Study to Evaluate Metreleptin in Patients With Partial Lipodystrophy","An Open-label Extension of APG-20 Study to Evaluate the Long-term Safety and Efficacy of Daily Subcutaneous Metreleptin Treatment in Subjects With Partial Lipodystrophy","Inclusion Criteria:\n\n1. Age ≥13 years of age, inclusive, at the time of signing the informed consent form (ICF).\n2. Subjects must have completed the Parent study APG-20 and, in the opinion of the Investigator and Sponsor, have been compliant with study procedures through Parent study Month 12 visit.\n3. Negative pregnancy test (urine or serum) for female subjects of childbearing potential\n4. Female subjects must be postmenopausal (defined as cessation of menses for at least 1 year), surgically sterile (hysterectomy, bilateral oophorectomy, or tubal ligation), or willing to use a highly effective method of contraception (such methods include combined \\[estrogen and progestogen containing\\] hormonal contraception associated with inhibition of ovulation: oral\u002Fintravaginal; transdermal\u002Fprogestogen-only hormonal contraception associated with inhibition of ovulation: oral\u002Finjectable; implantable\u002Fintrauterine device \\[IUD\\]\u002Fintrauterine hormone-releasing system \\[IUS\\]\u002Fbilateral tubal occlusion\u002Fvasectomized partner\u002Fsexual abstinence) for the duration of the study (from the time they sign an ICF, until 4 weeks after the last dose of study treatment). Hormonal contraception alone (including oral, injectable, transdermal, and implantable) is not acceptable; an additional barrier method must be used. Intravaginal hormonal contraception or IUS alone are allowed per Investigator's discretion. Subjects on oral contraceptives will not be required to discontinue medication. Subjects will not be permitted to commence oral contraceptives while taking study treatment during the study.\n5. Male subjects must be surgically sterile or willing to use an acceptable method of contraception for the duration of the study (from the time they sign an ICF), until 4 weeks after the last dose of study treatment. An acceptable method of contraception would be a barrier method, such as condoms, restraining from having sex, or a partner using the approved methods of contraception for female subjects as per Inclusion Criteria #4.\n6. Subjects who are blood\u002Fegg\u002Fsperm donors should be willing to halt donations during the study and for 4 weeks following their last dose of study treatment.\n7. Subjects who are willing to provide informed consent\u002Fassent prior to any study-specific procedures. If a minor, the subject has a parent or legal guardian able to read, understand, and sign the ICF and\u002For a Child Assent Form (if applicable), communicate with the Investigator, and understand and comply with the protocol requirements. Adolescent subjects must also read and understand the Child Assent Form.\n8. Subjects who are willing to follow the dietary restrictions recommended by the Investigator.\n\nExclusion Criteria:\n\n1. Severe hypersensitivity reactions to the study treatment of the Parent study APG-20.\n2. Known to have tested positive for human immunodeficiency virus (HIV) or known to be diagnosed with HIV-related LD. Positive HIV test in countries requiring HIV testing.\n3. Are immunocompromised or receiving immunomodulatory drugs.\n4. Estimated glomerular filtration rate (eGFR) \\\u003C30 mL\u002Fmin\u002F1.73m2 calculated by Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) for subjects ≥18 years of age and by Bedside Schwartz for subjects \\\u003C18 years of age.\n5. Diagnosis of clinically significant hematological abnormalities (including but not limited to clinically significant leukopenia, neutropenia, bone marrow abnormalities, leukemia or lymphoma, or clinically significant pathological lymphadenopathy).\n6. Malignancy that is ongoing\u002Fnot in remission or that currently requires or has required active treatment within the past year (with the exception of basal cell carcinoma of the skin, squamous cell carcinoma of the skin, or carcinoma in situ \\[e.g., breast carcinoma, cervical cancer in situ\\] that have undergone potentially curative therapy).\n7. For females only: currently pregnant (confirmed with a positive pregnancy test) or breastfeeding.\n8. Any condition where, in the opinion of the Investigator, participation in this study may pose a significant risk to the subject.","ALL","13 Years",{"count":55,"type":21},24,[57],"PHASE3","This Phase 3 study is an Open Label Extension of the APG-20 Study To Evaluate the Long-term Safety and Efficacy of Daily Subcutaneous Metreleptin Treatment in Subjects with Partial Lipodystrophy",[28],[61,62],"Metreleptin","familial partial lipodystrophy","RECRUITING","2026-01-30",{"date":66,"type":36},"2026-02-02",{"date":68,"type":36},"2024-10-14",{"date":70,"type":21},"2028-12",{"name":72,"class":73},"Amryt Pharma","INDUSTRY",7,{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":80,"acronym":4,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":52,"minAge":17,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":82,"phases":4,"briefSummary":83,"conditions":84,"keywords":4,"overallStatus":85,"whyStopped":4,"lastUpdateSubmitDate":86,"lastUpdatePostDateStruct":87,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":88,"locationsCount":44},"100240188","expanded-access-metreleptin-study-100240188","NCT02404896","Expanded Access Metreleptin Study","Expanded-Access for the Use of Metreleptin in Patients With Partial Lipodystrophy Associated With Diabetes Mellitus or Hypertriglyceridemia","Inclusion Criteria:\n\n1. Signed Written Informed Consent\n\n   a) Before any program procedures are performed, the details of the program will be described to the patient and the patient will be given a written informed consent document to read. If the patient agrees to participate in the program, consent will be indicated by signing and dating of the informed consent document in the presence of program personnel.\n2. Target Population\n\n   1. Ability to comply with visits and procedures required by program\n   2. Previously enrolled in study FHA101\u002FMB002-002\n   3. Has physician-confirmed partial lipodystrophy and had evidence of benefit with metreleptin treatment based on the following metabolic criteria demonstrated within the last year of metreleptin treatment (if on treatment over 1 year) from baseline values:\n\n      * TG reduction ≥ 30% OR\n      * HbA1c reduction ≥ 1% OR\n      * Decrease in insulin requirements ≥ 40% OR\n      * Decrease in episodes of pancreatitis OR\n      * Improvement in steatohepatitis OR\n      * Withdrawal of metreleptin led to marked worsening of metabolic parameters\n3. Age and Reproductive Status\n\n   1. Male or female, over the age of 6 months\n   2. Women of childbearing potential (WOCBP) must have a negative serum or urine pregnancy test (minimum sensitivity 25 IU\u002FL or equivalent units of HCG) within 24 hours prior to the restart of study drug.\n   3. Women must not be breastfeeding\n   4. WOCBP must agree to follow instructions for method(s) of contraception for the duration of treatment with metreleptin plus 5 half-lives of metreleptin plus 30 days (duration of ovulatory cycle) for a total of 6 months post-treatment completion.\n   5. Men who are sexually active with WOCBP must agree to follow instructions for method(s) of contraception for the duration of treatment with metreleptin plus 5 half-lives of the metreleptin plus 90 days (duration of sperm turnover) for a total of 3 months post-treatment completion.\n\nExclusion Criteria:\n\n1. Target Disease Exceptions\n\n   a) Has acquired lipodystrophy and clinically significant hematologic abnormalities (such as neutropenia and\u002For lymphadenopathy)\n2. Medical History and Concurrent Diseases\n\n   1. Has been diagnosed with generalized lipodystrophy\n   2. Has been diagnosed with HIV infection\n   3. Has a clinically significant medical condition that could potentially affect the risk\u002Fbenefit ratio for metreleptin treatment and\u002For the personal well-being of the patient, as judged by the primary treating physician\n   4. Has known infectious liver disease\n   5. Has known allergies to E. coli-derived proteins or hypersensitivity to any component of metreleptin treatment\n3. Other Exclusion Criteria\n\n   1. Prisoners or patients who are involuntarily incarcerated.\n   2. Patients who are compulsorily detained for treatment of either a psychiatric or physical (eg, infectious disease) illness.","EXPANDED_ACCESS","Metreleptin was approved in the United States as adjunct to diet as replacement therapy to treat the complications of leptin deficiency in patients with congenital or acquired generalized lipodystrophy in February 2014. The approval was based on results obtained in 2 open-label, investigator-sponsored studies (Studies 991265 and 20010769) conducted at the National Institutes of Health (NIH) to evaluate the safety and efficacy of metreleptin treatment in patients with lipodystrophy and 1 treatment IND (FHA101\u002FMB002-002\u002FMB002-002) conducted by Bristol-Myers Squibb on behalf of AstraZeneca (BMS\u002FAZ) in patients with diabetes mellitus and\u002For hypertriglyceridemia related to lipodystrophy. These studies enrolled patients with lipodystrophy including both generalized and partial lipodystrophy. Although the marketing authorization restricted the indication to patients with generalized lipodystrophy, meaningful clinical benefit was achieved in a subset of patients with partial lipodystrophy, and these patients from FHA101\u002FMB002-002 form the basis of the request for ongoing treatment under expanded access.",[28],"AVAILABLE","2026-01-29",{"date":66,"type":36},{"name":89,"class":43},"University of Michigan"]