[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"bardet-biedl-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:bardet-biedl-syndrome":34},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,51,87,166,219,238],{"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":22,"briefSummary":24,"conditions":25,"keywords":30,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":39,"lastUpdatePostDateStruct":40,"startDateStruct":43,"completionDateStruct":45,"leadSponsor":47,"locationsCount":50},"100644723","phase-4-real-world-effects-of-mc4r-agonist-therapy-in-bbs-and-severe-genetic-obesity-100644723",false,"NCT07674290","Real-World Effects of MC4R Agonist Therapy in BBS and Severe Genetic Obesity","Real-World Effectiveness, Safety and Patient-reported Outcomes of Setmelanotide in Patients With Bardet-Biedl Syndrome: A Prospective Mono Centric Observational Interventional Study","REAL-MC4","Inclusion Criteria:\n\n* clinical phenotype corresponding to Bardet-Biedl Syndrome\n* genetic testing with notable finding\n\nExclusion Criteria:\n\n* patients younger than the age approved for treatment with setmelanotide","ALL",{"count":19,"type":20},200,"ESTIMATED","INTERVENTIONAL",[23],"PHASE4","Bardet-Biedl syndrome (BBS) and other rare disorders associated with impairment of the melanocortin-4 receptor (MC4R) pathway are characterized by severe early-onset obesity, hyperphagia, and substantial morbidity. Setmelanotide, an MC4R agonist, is approved in Europe for selected genetic obesity disorders and reimbursed in Germany for eligible patients. This study aims to evaluate the effectiveness, safety, treatment persistence, metabolic outcomes, and patient-reported outcomes of Setmelanotide under real-world conditions. The registry is designed to allow future inclusion of additional MC4R agonists as they become approved and clinically available. The study will primarily be conducted at University Hospital Essen and will collect longitudinal routine clinical data from pediatric and adult patients receiving MC4R agonist therapy according to approved indications.",[26,27,28,29],"Bardet Biedl Syndrome (BBS)","Bardet Biedl Syndrome","Bardet-Biedl Syndrome (BBS)","Alstrom Syndrome",[31,32,33,34,35,36,37],"Setmelanotide","Melanocortin-4-receptor","Melanocortin pathway","Bardet-Biedl Syndrome","Hyperphagia","Neurocognitive development","Genetic Obesity","RECRUITING","2026-06-23",{"date":41,"type":42},"2026-06-29","ACTUAL",{"date":44,"type":42},"2023-01-01",{"date":46,"type":20},"2030-12-31",{"name":48,"class":49},"Tom Hühne","OTHER",1,{"id":52,"slug":53,"hasResults":11,"nctId":54,"briefTitle":55,"officialTitle":56,"acronym":57,"eligibilityCriteria":58,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":59,"enrollmentInfo":60,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":62,"conditions":63,"keywords":73,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":78,"lastUpdatePostDateStruct":79,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":5},"100163551","arpkd-database-study-100163551","NCT01401998","ARPKD Database Study","Core A: The Hepato\u002FRenal Fibrocystic Diseases Translational Resource (ARPKD Database Study)","ARPKD","Inclusion Criteria:\n\n* Demonstration of hepato\u002Frenal fibrocystic disease by clinical information, imaging studies, biopsy, autopsy, or genetic testing.\n\nExclusion Criteria:\n\n* ADPKD Urinary tract malformations Major congenital anomalies of other systems","18 Years",{"count":19,"type":20},"OBSERVATIONAL","Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis (CHF), Caroli syndrome (CS), polycystic liver disease, oro-facial-digital syndrome, nephronophithisis (NPHP), and glomerulocystic Kidney Disease).\n\nThe lack of enough routinely available resources for these diseases to be well diagnosed and treated, would be best resolved by coordinated case accrual and sharing of clinical data and bio-specimens (DNA and tissues) among participating institutions, thereby leading to the centralization and sharing of clinical and genetic information, as well as bio-materials, providing an important engine for more rapid research progress and community understanding through the creation of research networks.\n\nThis study aims to build a registry of a clinical database (medical health information), a mutational database (genetic information) and an educational resource about HRFD to eventually provide information about these diseases to families, physicians and genetic counselors via our existing HIPAA- approved study website.\n\nGoals for the Core A: The Hepato\u002FRenal Fibrocystic Diseases Translational Resource are:\n\n1. \\- Clinical Database:\n\n   • Expand our comprehensive Clinical Database to include information from all patients who meet the inclusion criteria for hepato\u002Frenal fibrocystic diseases.\n2. \\- Mutational Database:\n\n   * Test children with ARPKD and other hepato\u002Frenal fibrocystic disease to identify genetic mutations, establish a DNA bank for patients with hepato\u002Frenal fibrocystic diseases and develop a Mutational Database. This Database will be capable of linking clinical and mutational information via a unique identifier in a searchable format to facilitate genetic research (e.g. genotype-phenotype correlations, new disease gene studies, and modifier gene studies), translational studies, and clinical trials.\n\n     3- Tissue Resource:\n   * Much of the research that is performed on diseases of the kidney, including recessive genetic diseases, requires human tissue from both affected as well as non-affected (controls) individuals. In this Core Resource, we are establishing an independent tissue resource which would supply investigators throughout North America with samples of hepato\u002Frenal fibrocystic disease affected tissues for studies of these disorders.\n\n     4- Educational Resource:\n   * Expand our multi-media, web-based resource to provide a reliable up-to-date, and comprehensive informational resource for ARPKD and Hepato\u002FRenal Diseases families, their physicians, and genetic counselors.",[64,65,66,27,67,68,69,70,71,72],"Hepato\u002FRenal Fibrocystic Disease","Autosomal Recessive Polycystic Kidney Disease","Joubert Syndrome","Meckel-Gruber Syndrome","Congenital Hepatic Fibrosis","Caroli Syndrome","Oro-Facial-Digital Syndrome Type I","Nephronophthisis","Glomerulocystic Kidney Disease",[74,75,76,77],"cystic kidney disease","polycystic kidney disease","congenital hepatic fibrosis","genetic disease","2026-06-12",{"date":80,"type":42},"2026-06-15",{"date":82,"type":4},"2011-06",{"date":84,"type":20},"2030-12",{"name":86,"class":49},"Children's Hospital of Philadelphia",{"id":88,"slug":89,"hasResults":11,"nctId":90,"briefTitle":91,"officialTitle":92,"acronym":93,"eligibilityCriteria":94,"healthyVolunteers":95,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":96,"targetDuration":98,"studyType":61,"phases":4,"briefSummary":99,"conditions":100,"keywords":128,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":157,"lastUpdatePostDateStruct":158,"startDateStruct":160,"completionDateStruct":162,"leadSponsor":164,"locationsCount":50},"100242565","inherited-retinal-degenerative-disease-registry-100242565","NCT02435940","Inherited Retinal Degenerative Disease Registry","Foundation Fighting Blindness My Retina Tracker Registry","MRTR","Inclusion Criteria:\n\n* Diagnosed with an inherited retinal degenerative disease OR\n\nExclusion Criteria:\n\n* Glaucoma only\n* Diabetic retinopathy only\n* Non-retinal disease\n* Not heritable retinal disease",true,{"count":97,"type":20},20000,"20 Years","The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals who register are guided to create a profile that captures their perspective on their retinal disease and its progress; family history; genetic testing results; preventive measures; general health and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals of the Registry are: to better understand the diversity within the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene variants; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a tool to investigators that can assist with recruitment for research studies and clinical trials.",[101,102,103,34,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127],"Eye Diseases Hereditary","Retinal Disease","Achromatopsia","Bassen-Kornzweig Syndrome","Batten Disease","Best Disease","Choroidal Dystrophy","Choroideremia","Cone Dystrophy","Cone-Rod Dystrophy","Congenital Stationary Night Blindness","Enhanced S-Cone Syndrome","Fundus Albipunctatus","Goldmann-Favre Syndrome","Gyrate Atrophy","Juvenile Macular Degeneration","Kearns-Sayre Syndrome","Leber Congenital Amaurosis","Refsum Syndrome","Retinitis Pigmentosa","Retinitis Punctata Albescens","Retinoschisis","Rod-Cone Dystrophy","Rod Dystrophy","Rod Monochromacy","Stargardt Disease","Usher Syndrome",[129,130,131,132,133,134,135,136,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155,156],"inherited retinal degenerative disease","retinitis pigmentosa","Usher","Leber","Bardet-Biedl","Batten","Best","cone dystrophy","cone-rod dystrophy","choroideremia","congenital night blindness","enhanced s-cone","cone monochromacy","Goldmann-Favre","Kearns-Sayre","Refsum","retinoschisis","rod-cone dystrophy","rod dystrophy","rod monochromacy","Sorsby pseudoinflammatory dystrophy","stargardt","achromatopsia","juvenile inherited macular degeneration","cone dichromacy","cone trichromacy","Charcot-Marie-Tooth","albipunctate dystrophy","2026-05-18",{"date":159,"type":42},"2026-05-19",{"date":161,"type":4},"2014-06",{"date":163,"type":20},"2037-06",{"name":165,"class":49},"Foundation Fighting Blindness",{"id":167,"slug":168,"hasResults":11,"nctId":169,"briefTitle":170,"officialTitle":171,"acronym":172,"eligibilityCriteria":173,"healthyVolunteers":11,"sex":17,"minAge":59,"maxAge":4,"enrollmentInfo":174,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":176,"conditions":177,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":210,"lastUpdatePostDateStruct":211,"startDateStruct":213,"completionDateStruct":215,"leadSponsor":217,"locationsCount":50},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None",{"count":175,"type":20},600,"Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194,195,196,197,198,199,200,201,202,27,203,204,205,206,207,208,209],"Prader-Willi Syndrome","PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","Congenital Adrenal Hyperplasia","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","Turner Syndrome","46, XY DSD","Tuberous Sclerosis","Neurofibromatosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Rett Syndrome","22q11 Deletion Syndrome","Allan-Herndon-Dudley Syndrome","Kallmann Syndrome","Rare Bone Disorders","Noonan Syndrome","Williams-Beuren Syndrome","2023-09-04",{"date":212,"type":42},"2023-09-06",{"date":214,"type":42},"2018-10-01",{"date":216,"type":20},"2030-01-01",{"name":218,"class":49},"dr. Laura C. G. de Graaff-Herder",{"id":220,"slug":221,"hasResults":11,"nctId":222,"briefTitle":223,"officialTitle":223,"acronym":224,"eligibilityCriteria":225,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":226,"targetDuration":228,"studyType":61,"phases":4,"briefSummary":229,"conditions":230,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":231,"lastUpdatePostDateStruct":232,"startDateStruct":234,"completionDateStruct":235,"leadSponsor":236,"locationsCount":50},"100234392","clinical-registry-investigating-bardet-biedl-syndrome-100234392","NCT02329210","Clinical Registry Investigating Bardet-Biedl Syndrome","CRIBBS","Inclusion Criteria: (1) Genetic confirmation of BBS or (2) manifest four primary features of BBS or (3) manifest three primary features plus two secondary features.\n\nPrimary Features: Rod-Cone dystrophy, Polydactyly, Obesity, Learning disabilities, Hypogonadism in males, Renal anomalies\n\nSecondary Features: Speech disorder\u002Fdelay, Strabismus\u002Fcataracts\u002Fastigmatism, Brachydactyly\u002Fsyndactyly, Developmental delay, Polyuria\u002Fpolydipsia, Ataxia\u002Fpoor coordination\u002Fimbalance, Mild spasticity (especially lower extremities), Left ventricular hypertrophy\u002Fcongenital heart disease, Hepatic fibrosis\n\nExclusion Criteria:\n\nIndividuals not meeting established genetic and\u002For phenotypic criteria",{"count":227,"type":20},1200,"15 Years","Bardet-Biedl Syndrome (BBS) is a rare genetic disorder associated with a vast array of symptoms. The features of BBS are highly variable, even between siblings, making long-term follow-up and centralization of information vital to better understanding this complex disease and designing effective treatments.\n\nMarshfield Clinic has developed the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) to gather comprehensive health information from patients diagnosed with BBS in a single repository. This information will be used to inform patients, families, and physicians about the complex features of BBS and will serve as a platform for researchers to develop effective and targeted treatment strategies for patients with BBS.\n\nCRIBBS is a web-based, confidential database and the privacy of patients enrolled in the registry will always be respected. Information maintained in the database will be identifiable only by an assigned study identification number, not by name. The registry strictly complies with HIPAA regulations. CRIBBS participants may be contacted periodically with information regarding clinical trials or research studies, but participation is entirely voluntary.\n\nCRIBBS will bring together complex genetic and clinical information from BBS patients to accelerate research into effective treatments, attract additional researchers, and make it easier for researchers to identify patients and find funding for innovative studies.",[34],"2022-07-18",{"date":233,"type":42},"2022-07-19",{"date":161,"type":4},{"date":84,"type":20},{"name":237,"class":49},"Marshfield Clinic Research Foundation",{"id":239,"slug":240,"hasResults":11,"nctId":241,"briefTitle":242,"officialTitle":243,"acronym":244,"eligibilityCriteria":245,"healthyVolunteers":11,"sex":17,"minAge":246,"maxAge":4,"enrollmentInfo":247,"targetDuration":4,"studyType":21,"phases":249,"briefSummary":251,"conditions":252,"keywords":4,"overallStatus":38,"whyStopped":4,"lastUpdateSubmitDate":254,"lastUpdatePostDateStruct":255,"startDateStruct":257,"completionDateStruct":259,"leadSponsor":261,"locationsCount":50},"100397924","cohort-for-bardet-bield-syndrome-and-alstrm-syndrome-for-translational-research-monocentric-interventional-study-100397924","NCT04461444","COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study","COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique","COBBALT","Inclusion Criteria:\n\n* Patients of both sex\n* Age minimum\\*\n* patients with social protection\n* Written informed consent form signed prior initiating any trial related procedure:\n\n  * by \\> 18-year old patients\n  * by both parents for minor patients \\> 4 months or legal representative for protected adults, and by minor and protected adults patients if able to understand and\u002For give their assent.\n  * For foreign patients, a third party will translate, if required, the information prior to the consent.\n* a diagnosis of BBS or ALMS based on molecular assessment or clinical evaluation\u002For patient with mutation and none of the diagnosis criteria\n* and\u002For an identified mutation in BBS genes or ALMS1 gene\n\n  * The inclusion of children is essential to a cohort study that is attempting an early identification of visual, metabolic and renal abnormalities. Many of the age-dependent manifestations of BBS develop during childhood and the average age of diagnosis is 9.2 years\n\nExclusion Criteria:\n\n* Serious active intercurrent pathology that may impact the collected data\n* Patient under judicial protection\n* Participation in another interventional clinical trial which includes an exclusion period\n* Non protected adult with difficulty of comprehension, or inability to understand the delivered information (emergency situation ...).","4 Months",{"count":248,"type":20},350,[250],"NA","ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus. There are to date no specific treatments available and limited information on the natural history of the diseases. the investigators aim to establish a French cohort for these diseases to improve patient care and assess the effect of actual therapies on quality of life.\n\nThe purpose of this study is to establish a cohort of Bardet-Bield syndrome (BBS) and ALström syndrome (ALMS) patients in order to formalize and address questions concerning the in-depth natural clinical and biological history of the disease on the long term for a given patient, establish the impact on the quality of life of various clinical manifestations",[34,253],"Alström Syndrome","2021-09-09",{"date":256,"type":42},"2021-09-10",{"date":258,"type":42},"2020-06-16",{"date":260,"type":20},"2035-02",{"name":262,"class":49},"University Hospital, Strasbourg, France"]