[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"ichthyosis\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:ichthyosis":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,46,78,106],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100512589","fard-radico-cohort-radico-fard-100512589",false,"NCT05954416","FARD (RaDiCo Cohort) (RaDiCo-FARD)","National Cohort for Evaluation of the Burden of Rare Skin Diseases","FARD","Inclusion criteria :\n\n* adults or children with a confirmed diagnosis of one of the 9 following rare skin disease: Inherited epidermolysis bullosa, Ichthyosis, Ectodermal dysplasia, Incontinetia Pigmenti, Neurofibromatosis type 1, Albinism, Pemphigus, Mucous membrane pemphigoid or Palmoplantar keratoderma.\n* prevalent or incident and followed in one the reference\u002Fcompetence centers of the FIMARAD healthcare network,\n* able to understand a survey (for child, survey should be understood by parents),\n* having given their signed consent to participate to the cohort RaDiCo-FARD (parents' consent for child).\n\nNon-inclusion criteria :\n\n* Patients, for whom regular care follow-up is not feasible with the FIMARAD healthcare network sites,\n* Unconfirmed diagnosis (according to criteria for each disease),\n* Patients (and\u002For parents) not able to understand a survey\n* Patients (and\u002For parents) not having given their signed consent to participate to the study","ALL",{"count":19,"type":20},900,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to conduct a prospective assessment of the individual Burden of 9 rare skin diseases to assess disability in the broadest sense of the term (psychological, social, economic and physical) for patients and\u002For families.\n\nTwo types of indicators will be used to reach this objective :\n\n1. an individual burden score calculated based on a burden questionnaire created specifically, approved and designed to understand the tendency to changes in care and lifestyles. The burden questionnaire should be used by patients and\u002For their family themselves in self-assessment.\n2. a descriptive analysis of all resources (medical and non-medical) used by the family unit to manage the disease.",[24,25,26,27,28,29,30,31,32],"Inherited Epidermolysis Bullosa","Ichthyosis","Ectodermal Dysplasia","Incontinentia Pigmenti","Neurofibromatosis Type 1","Albinism","Pemphigus","Mucous Membrane Pemphigoid","Palmoplantar Keratoderma","RECRUITING","2026-02-10",{"date":36,"type":37},"2026-02-12","ACTUAL",{"date":39,"type":37},"2018-03-07",{"date":41,"type":20},"2027-03-07",{"name":43,"class":44},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",15,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":50,"acronym":51,"eligibilityCriteria":52,"healthyVolunteers":11,"sex":17,"minAge":53,"maxAge":54,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":58,"briefSummary":60,"conditions":61,"keywords":65,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":67,"lastUpdatePostDateStruct":68,"startDateStruct":70,"completionDateStruct":72,"leadSponsor":74,"locationsCount":77},"100526566","phase-2-a-44-week-monocentric-open-study-assessing-the-efficacy-and-safety-of-deucravacitinib-in-adults-with-inflammatory-genodermatoses-100526566","NCT06136403","A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses","GENEPID","Inclusion Criteria:\n\n* Subject has congenital skin fragility with skin and\u002For mucosal blisters, a clinical phenotype of EBS-sev and a laboratory confirmed diagnosis of EBS by KRT5 and\u002For 14 mutation (autosomal only) OR a clinical phenotype of inflammatory ichthyosis (IC) including keratinopathic ichthyosis due to KRT1\u002F10 mutation, ECI with identified genetic mutations (TGM5, NIPAL4, ABCA12, etc…).\n* Subject has at least a mean daily number of 4 new blisters (EBS-sev) OR an ISS \\> 50\u002F128.\n\n  * Subject agrees not to use any topical therapies other than the investigator approved.\n\nExclusion Criteria:\n\n* Subjects with another form of ICI ie Netherton syndrome, Kid syndrome etc.\n* Infectious\u002FImmune-related Exclusions\n* Medical History and Concurrent Diseases","18 Years","99 Years",{"count":56,"type":20},10,"INTERVENTIONAL",[59],"PHASE2","The goal of this clinical trial is to learn about deucravacitinib treatment in adults with inflammatory epidermal genodermatoses . The main question it aims to answer are: describe efficacity and safety of this treatment.\n\nParticipants will take treatments and have to use bullets during the study period.",[62,25,63,64],"Epidermolysis Bullosa Simplex","Genodermatosis","Inflammatory Congenital Ichthyoses",[66],"deucravacitinib","2025-07-31",{"date":69,"type":37},"2025-08-05",{"date":71,"type":37},"2024-03-18",{"date":73,"type":20},"2026-10-12",{"name":75,"class":76},"Centre Hospitalier Universitaire de Nice","OTHER",2,{"id":79,"slug":80,"hasResults":11,"nctId":81,"briefTitle":82,"officialTitle":83,"acronym":4,"eligibilityCriteria":84,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":85,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":87,"conditions":88,"keywords":4,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":96,"lastUpdatePostDateStruct":97,"startDateStruct":99,"completionDateStruct":101,"leadSponsor":103,"locationsCount":105},"100541475","qualitative-study-in-patients-with-genodermatoses-and-healthcare-professionals-on-reproductive-counselling-100541475","NCT06330350","Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling","Investigating Perspectives of Patients With Genodermatosis and Healthcare Professionals on Reproductive Counselling","Inclusion Criteria:\n\n* Adult patients with genodermatosis (i.e, keratinisation disorders, skin fragility diseases, ectodermal dysplasias, dermato-oncological syndromes, other genodermatoses) and a desire to have children, with if applicable his or her partner with a desire to have children\n* Patients with clinically and molecularly confirmed variant of a genodermatosis\n* Health care professionals involved with the care of genodermatology patients (e.g. clinical geneticists, dermatologists)\n\nExclusion Criteria:\n\n* Not being able to communicate verbally in Dutch or English",{"count":86,"type":20},25,"The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, dermatologists and other clinicians involved), and want to explore to what extent patients and their partners are well informed about these reproductive options. To achieve this, the investigators will conduct individual semi-structured qualitative interviews with participants affected by genodermatoses (and their partners) and with healthcare professionals.",[89,25,90,91,26,92,93,94,95,29],"Quality of Life","Palmoplantar Keratoses","Epidermolysis Bullosa","Basal Cell Nevus Syndrome","Birt-Hogg-Dube Syndrome","Tuberous Sclerosis","Cutis Laxa","2025-05-16",{"date":98,"type":37},"2025-05-18",{"date":100,"type":37},"2024-01-01",{"date":102,"type":20},"2025-12-31",{"name":104,"class":76},"Maastricht University Medical Center",1,{"id":107,"slug":108,"hasResults":11,"nctId":109,"briefTitle":110,"officialTitle":111,"acronym":112,"eligibilityCriteria":113,"healthyVolunteers":11,"sex":17,"minAge":53,"maxAge":114,"enrollmentInfo":115,"targetDuration":4,"studyType":57,"phases":117,"briefSummary":118,"conditions":119,"keywords":120,"overallStatus":123,"whyStopped":4,"lastUpdateSubmitDate":124,"lastUpdatePostDateStruct":125,"startDateStruct":127,"completionDateStruct":129,"leadSponsor":131,"locationsCount":77},"100543943","phase-2-efficacy-of-injectable-gentamicin-in-hereditary-ichthyosis-100543943","NCT06362447","Efficacy of Injectable Gentamicin in Hereditary Ichthyosis","Phase 2 Study Evaluating the Efficacy of Injectable Gentamicin in Hereditary Ichthyosis","GENTIC","Inclusion Criteria:\n\n1. Adult patients affiliated to a social insurance protection regimen.\n2. Hereditary ichthyosis caused by a homozygous non-sense mutation of a gene responsible for hereditary ichthyosis (TGM1, PNPLA1, ALOX12B, NIPAL4, ALOXE3, SDR9C7, ABCA12, CERS3, SPINK5 and CDSN)\n3. Moderate to severe forms of ichthyosis defined as Validating an Ichthyosis Severity Index score at 2-3 on at least 2 out of 4 areas evaluated (back, upper limbs, lower limbs, back of the foot)\n4. Free, informed consent, written and signed by the participant and the investigator (at the latest on the day of inclusion and before any examination required by the research).\n\nExclusion Criteria:\n\n1. Cutaneous signs suggesting a surinfection\n2. Hypersensibility of active substance or one of the gentamicin excipients\n3. Administration of an aminoside in the previous 3 months\n4. Treatment with nephrotoxic or ototoxic medication in the previous 6 weeks\n5. Pregnant or breastfeeding women, or women planning to become pregnant or breastfeed during the study. Women of childbearing age, potentially sexually active, and unwilling to use acceptable contraception measures in accordance with Clinical Trials Facilitation and Coordination Group recommendations\n6. Subjects \\>75 years (physiological impairment of kidney function)\n7. Left ventricular insufficiency\n8. Hypoalbuminemia\n9. Myasthenia\n10. History of necrosis at the injection site during previous treatment with aminosid\n11. Grade B or C cirrhosis according to Child-Pugh classification\n12. Nephropathy or other situation at risk of renal dysfunction\n13. Renal insufficiency with glomerular filtration rate \\\u003C 60mL\u002Fmin\n14. Surdity which is not caused by plug scales in the external ear canals or other situation at risk of surdity including the presence of the A1555G mutation in the 12S ribonucleic acid (mitochondrial deoxyribonucleic acid) gene\n15. Patient who modify his keratolytic or emollient treatment in the last two weeks previous the inclusion visit\n16. Patient who modify his retinoid topic treatment in the month previous the inclusion visit\n17. Patient who modify his systemic retinoid treatment in the 3 months previous the inclusion visit\n18. Patient under guardianship, curatorship or deprived of their liberty\n19. Patient with pre-existing neuromuscular disease\n20. Patient participating in another clinical study with investigational treatment\n\nExclusion criteria at the end of the \"run-in\" period:\n\nVariation greater than 15% in the Validating an Ichthyosis Severity Index score between two baseline measurements.","75 Years",{"count":116,"type":20},26,[59],"This study will evaluate the efficacy and safety of intravenous gentamicin in congenital ichthyosis due to a non-sens mutation. The primary objective is the severity of scales and erythema at the third month, compared to baseline. Secondary objectives will include: the importance of itching, trans epidermal water loss, cutaneous expression of the targeted protein, the security of the drug and patients' satisfaction.",[25],[121,122],"Congenital ichthyoses","injectable gentamicin","NOT_YET_RECRUITING","2024-08-30",{"date":126,"type":37},"2024-09-05",{"date":128,"type":20},"2024-09",{"date":130,"type":20},"2027-04-01",{"name":132,"class":76},"University Hospital, Toulouse"]