[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"albinism\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:albinism":31},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,49,80,109],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":32,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100553863","national-ophthalmic-genotyping-and-phenotyping-network-eyegene-registered-trademark-stage-3---expansion-of-dna-and-data-repositories-for-rare-inherited-ophthalmic-diseases-100553863",false,"NCT06491615","National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases","National Ophthalmic Genotyping and Phenotyping Network, Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\nThe participant must present with characteristics consistent with one of the following diagnoses:\n\n* Aniridia\n* Best disease\n* Blue-cone monochromacy\n* Corneal dystrophy\n* Other hypopigmentation disorder affecting vision (e.g., Oculocutaneous and ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome)\n\nOR\n\nThe participant must be a direct, close relative of an affected participant.\n\nOR\n\nA participant who also participated in the eyeGENE Stage 1 protocol who may benefit from further genetic testing.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Those with impaired decision-making capability who do not have a legally-authorized representative.\n* Those unable to provide a saliva sample OR have any disease or condition that makes it unsafe for a subject to provide a suitable blood sample of at least 5 mL to yield more than 50 micrograms of DNA.\n\nAn individual who meets any of the following criteria will be excluded from participation in the optional retinal imaging:\n\n* Those with a history of epilepsy.\n* Children under the age of 18.","ALL","1 Day","120 Years",{"count":20,"type":21},1000,"ESTIMATED","OBSERVATIONAL","Background:\n\nThe eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create better treatments. Now researchers want to expand eyeGENE (Registered Trademark) to include more people for certain eye diseases.\n\nObjective: To collect information and DNA samples for the study of eye diseases.\n\n* Primary objective\n\n  --To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual\n* Secondary objectives\n\n  * To enhance recruitment for clinical trials and investigations in inherited eye diseases\n\n    * To establish genotype-phenotype correlations for rare eye diseases\n\nEligibility:\n\nPeople of any age with certain eye diseases. These can include aniridia; Best disease; blue-cone monochromacy; corneal dystrophy; and disorders of pigmentation, such as albinism. Relatives unaffected by the eye disease of interest may also be needed.\n\nDesign:\n\nResearchers will select participants based on their diagnosis. The data may include images and test results from eye exams.\n\nParticipants will provide a sample of saliva. They will receive a kit with written instructions. They will spit in a tube and mail it to the NIH.\n\nParticipants may be asked to provide a blood sample. The blood may be drawn at the NIH or at a local clinic.\n\nThe eyeGENE (Registered Trademark) repository will offer researchers data about the participants eye conditions. The data may include pictures of their eyes, results of the genetic testing, and history of other diseases. Researchers will be able to see data such as age and gender, but they will not see names, dates of birth, or contact information.",[25,26,27,28,29,30,31],"Inherited Ophthalmic Diseases","Hypopigmentation Disorder","Corneal Dystrophy","Blue-cone Monochromacy","Best Disease","Aniridia","Albinism",[33,34,35],"eyeGENE","Genetics","Inherited","RECRUITING","2026-06-06",{"date":39,"type":40},"2026-06-09","ACTUAL",{"date":42,"type":40},"2024-07-12",{"date":44,"type":21},"2054-06-27",{"name":46,"class":47},"National Eye Institute (NEI)","NIH",2,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":54,"acronym":55,"eligibilityCriteria":56,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":57,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":59,"conditions":60,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":69,"lastUpdatePostDateStruct":70,"startDateStruct":72,"completionDateStruct":74,"leadSponsor":76,"locationsCount":79},"100512589","fard-radico-cohort-radico-fard-100512589","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",{"count":58,"type":21},900,"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.",[61,62,63,64,65,31,66,67,68],"Inherited Epidermolysis Bullosa","Ichthyosis","Ectodermal Dysplasia","Incontinentia Pigmenti","Neurofibromatosis Type 1","Pemphigus","Mucous Membrane Pemphigoid","Palmoplantar Keratoderma","2026-02-10",{"date":71,"type":40},"2026-02-12",{"date":73,"type":40},"2018-03-07",{"date":75,"type":21},"2027-03-07",{"name":77,"class":78},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",15,{"id":81,"slug":82,"hasResults":11,"nctId":83,"briefTitle":84,"officialTitle":85,"acronym":86,"eligibilityCriteria":87,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":88,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":90,"conditions":91,"keywords":94,"overallStatus":98,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":101,"completionDateStruct":103,"leadSponsor":105,"locationsCount":108},"100623767","implementation-of-long-read-sequencing-for-the-diagnosis-of-rare-diseases-100623767","NCT07400913","Implementation of Long-read Sequencing for the Diagnosis of Rare Diseases.","Implementation of Long-read Sequencing for Epimutation Detection in the Diagnosis of Rare Diseases.","LongEpi","Inclusion Criteria:\n\n* Adult patients,adults under guardianship, or minors with autorisation from their legal representative, for whom extracted DNA or a tube of frozen blood is available in the molecular genetics laboratory.\n* Patients investigated for either :\n\n  * a syndromic intellectual development disorder (IDD) defined by:\n* age :\n\n  * Between 0 and 5 years with strict criteria: severe developmental delay in terms of motor skills, language and\u002For sociability OR\n  * ≥ 6 years: patients with IDD, regardless of severity (but with IDD proven by ad hoc neuropsychological tests)\n* association with minor morphological criteria and\u002For organ malformations.\n\n  * albinism defined by the presence of two of the following clinical signs: foveal hypoplasia, retinal hypopigmentation, iris transillumination, crossed asymmetry, nystagmus, skin\u002Fhair hypopigmentation (suggested diagnostic criteria proposed by Kruitj et al. (PMID: 30098354)).\n* Patients for whom genetic analyses (panel, exome, genome) are either :\n\n  * inconclusive (no pathogenic or probably pathogenic variant).\n  * A single heterozygous pathogenic or probably pathogenic variant identified in a gene associated with an autosomal recessive disease compatible with the phenotype.\n\nExclusion Criteria:\n\n* Refusal to participate in research protocols expressed at the time of written consent for genetic analysis as part of medical care.\n* Opposition expressed following receipt of information note.",{"count":89,"type":21},150,"Following on from the third national plan for rare diseases (PNMR3), the main objectives of the PNMR4 are to reduce diagnostic uncertainty and dead ends and to strengthen translational research to promote diagnosis and the development of new treatments in the field of rare diseases.\n\nTo this end, the French Genomic Medicine Plan 2025 (PFMG2025) is organizing the rollout of whole genome sequencing (WGS) for diagnostic purposes.\n\nThis technological milestone, covering regions outside the coding regions, has recently enabled the identification of variations in the RNU4-2 gene as a major cause of Intellectual Developmental Disorder (IDD), accounting for approximately 0.4% of cases. RNU4-2 is a gene encoding a small nuclear RNA (snRNA), which is not translated into protein, and whose variations are not accessible to exome sequencing techniques.\n\nHowever, based on current knowledge, these techniques are based on short-read sequencing technology and can diagnose up to 50% of patients. It is therefore necessary to develop new techniques to detect variations not identified by these techniques.\n\nIn this context, the development of third-generation sequencing, particularly using Nanopore technology, now makes it possible to combine genomic and post-genomic approaches through long-read whole genome sequencing coupled with the detection of methylated cytosines on native DNA.\n\nThis new approach therefore enables the simultaneous detection of point or structural genomic variants, methylation abnormalities, and haplotype reconstruction. Numerous studies have shown that this strategy improves the diagnosis rate of rare diseases and could become a first-line genetic test.\n\nDNA methylation is an epigenetic modification that does not cause changes in the genomic sequence but regulates the transcription (RNA synthesis) of genes and therefore their expression. Methylation studies are performed either to establish an episignature or to search for methylation abnormalities. An episignature is the result of a variation in a gene known to regulate methylation marks.\n\nMethylation abnormalities are already known and sought after in targeted analysis for certain diseases such as Prader-Willi\u002FAngelman syndromes and Beckwith-Wiedemann\u002FSilver-Russell syndromes. The contribution of methylation analysis to the diagnosis of other diseases has recently been demonstrated. For example, in methylmalonic aciduria and homocystinuria type cblC associated with the autosomal recessive gene MMACHC, promoter methylation analysis revealed hypermethylation linked to the presence of an intronic variant of the PRDX1 gene. This intronic variant leads to the synthesis of an aberrant antisense RNA overlapping the promoter of the MMACHC gene, causing its hypermethylation. In 2024, combined whole-genome and methylation analysis in patients with porokeratosis led to the discovery of the FDFT1 gene. In general, the study of methylation profiles has shown its value in reducing diagnostic uncertainty in patients with rare diseases who have not been diagnosed after genome analysis.\n\nThe search for methylation abnormalities (or epimutation) at the pan-genomic level in the context of molecular diagnosis of rare diseases remains largely inaccessible and poorly described in the literature. The techniques routinely used for their detection are most often based on bisulfite treatment and PCR amplification. The disadvantages of bisulfite treatment are that it degrades DNA, preventing long-read applications, that it does not distinguish between 5mC and 5hmC methylation, and that failure to treat unmethylated cytosines can lead to false positives . In addition, phase determination with a genomic variant identified in short reads requires complementary techniques such as SNP arrays.\n\nThis approach therefore appears to be a major technological advance in the fight against diagnostic uncertainty in rare diseases and is part of the move towards precision medicine for patients.\n\nAs part of our Reference Center for Developmental Anomalies and Malformation Syndromes of Southwest Occitanie Réunion (CRMR ADSOOR) at Bordeaux University Hospital, we have developed clinical and molecular expertise, particularly in the field of developmental anomalies with intellectual development disorders (particularly chromatinopathies and Rubinstein Taybi syndrome and albinism.\n\nIn 2024, 2,300 consultations were carried out at the CRMR. In addition, 243 and 228 genome or exome analyses were interpreted in our molecular biology laboratory for albinism and intellectual development disorder and malformation syndrome, respectively.\n\nOur expertise in these two areas therefore represents the best starting point for the development of this pilot project using this innovative approach at Bordeaux University Hospital.",[92,31,93],"Rare Diseases","Intellectual Disability",[95,96,97],"Rare diseases","Long-read sequencing","Epimutation","NOT_YET_RECRUITING","2026-02-03",{"date":69,"type":40},{"date":102,"type":21},"2026-02",{"date":104,"type":21},"2028-02",{"name":106,"class":107},"University Hospital, Bordeaux","OTHER",1,{"id":110,"slug":111,"hasResults":11,"nctId":112,"briefTitle":113,"officialTitle":114,"acronym":4,"eligibilityCriteria":115,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":116,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":118,"conditions":119,"keywords":4,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":127,"lastUpdatePostDateStruct":128,"startDateStruct":130,"completionDateStruct":132,"leadSponsor":134,"locationsCount":108},"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":117,"type":21},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.",[120,62,121,122,63,123,124,125,126,31],"Quality of Life","Palmoplantar Keratoses","Epidermolysis Bullosa","Basal Cell Nevus Syndrome","Birt-Hogg-Dube Syndrome","Tuberous Sclerosis","Cutis Laxa","2025-05-16",{"date":129,"type":40},"2025-05-18",{"date":131,"type":40},"2024-01-01",{"date":133,"type":21},"2025-12-31",{"name":135,"class":107},"Maastricht University Medical Center"]