[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"hirschsprung-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:hirschsprung-disease":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,14,0,[8,42,71,102,132,160,191,242,263,668,688,713,734,753],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":27,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100093592","hirschsprung-disease-genetic-study-100093592",false,"NCT00478712","Hirschsprung Disease Genetic Study","Genetic Analysis of Hirschsprung Disease","Inclusion Criteria:\n\n\\- Individuals with Hirschsprung disease and their first degree relatives (any segment length of disease, with or without other congenital anomalies or health problems, single or multiple affected individuals in family)\n\nExclusion Criteria:\n\n* Unable or unwilling to provide sample for genetic studies\n* Individual, parent, or guardian unable to comprehend and provide informed consent",true,"ALL","1 Week","100 Years",{"count":21,"type":22},3000,"ESTIMATED","OBSERVATIONAL","Hirschsprung disease is a genetic condition caused by lack of nerve cells in varying lengths of the intestines. This study will investigate the complex genetic basis of the disease, which involves multiple interacting genetic factors.",[26],"Hirschsprung Disease",[28],"Hirschsprung","RECRUITING","2026-06-03",{"date":32,"type":33},"2026-06-04","ACTUAL",{"date":35,"type":33},"2001-01",{"date":37,"type":22},"2028-12",{"name":39,"class":40},"NYU Langone Health","OTHER",1,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":46,"acronym":4,"eligibilityCriteria":47,"healthyVolunteers":11,"sex":17,"minAge":48,"maxAge":49,"enrollmentInfo":50,"targetDuration":4,"studyType":52,"phases":53,"briefSummary":55,"conditions":56,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":65,"completionDateStruct":67,"leadSponsor":69,"locationsCount":41},"100521698","the-influence-of-feeding-source-on-the-gut-microbiome-and-time-to-full-feeds-in-neonates-with-congenital-gastrointestinal-pathologies-100521698","NCT06072976","The Influence of Feeding Source on the Gut Microbiome and Time to Full Feeds in Neonates With Congenital Gastrointestinal Pathologies","Inclusion Criteria:\n\n* Infants with gastroschisis, giant omphalocele, intestinal atresia, mid-gut volvulus, hirschsprungs disease.\n\nExclusion Criteria:\n\n1. Infant has already been on feeds\n2. Infants \\\u003C34 weeks gestation\n3. Parents with contraindications to providing milk (i.e. drug use-cocaine, fentanyl, meth BUT oxy\u002Fsuboxone\u002Fmarijuana OK)\n4. Complicated gastroschisis\n5. Short gut syndrome\n6. Additional congenital anomalies that affect ability to tolerate milk (i.e. cyanotic congenital heart disease BUT kidney disease ok)","0 Days","55 Years",{"count":51,"type":22},116,"INTERVENTIONAL",[54],"NA","This study explores the use of an exclusive human milk diet versus standard feeding practices to compare the influence on feeding outcomes and the gut bacteria in infants with intestinal differences.",[57,58,59,26,60,61],"Gastrointestinal Complication","Intestinal Obstruction","Gastroschisis","Omphalocele","Midgut Volvulus","2026-04-28",{"date":64,"type":33},"2026-04-30",{"date":66,"type":33},"2023-06-09",{"date":68,"type":22},"2027-06-09",{"name":70,"class":40},"Seattle Children's Hospital",{"id":72,"slug":73,"hasResults":11,"nctId":74,"briefTitle":75,"officialTitle":76,"acronym":4,"eligibilityCriteria":77,"healthyVolunteers":11,"sex":17,"minAge":78,"maxAge":79,"enrollmentInfo":80,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":82,"conditions":83,"keywords":87,"overallStatus":92,"whyStopped":4,"lastUpdateSubmitDate":93,"lastUpdatePostDateStruct":94,"startDateStruct":96,"completionDateStruct":98,"leadSponsor":100,"locationsCount":4},"100633434","pattern-and-outcome-of-neonatal-gastrointestinal-emergencies-in-assiut-university-children-hospital-100633434","NCT07526636","Pattern And Outcome Of Neonatal Gastrointestinal Emergencies In Assiut University Children Hospital","Pattern And Outcome Of Neonatal Gastrointestinal Emergencies In Assiut University Children Hospital: A Prospective Observational Cohort Study","Inclusion Criteria:\n\n* Neonates aged 0-28 days (corrected age if preterm)\n* Admitted to the NICU with a clinical diagnosis of a gastrointestinal emergency requiring urgent intervention\n* Written informed consent obtained from parent(s) or legal guardian(s)\n\nExclusion Criteria:\n\n* Other gastrointestinal problems not requiring urgent intervention","1 Minute","28 Days",{"count":81,"type":22},120,"This prospective observational study aims to evaluate the pattern, clinical presentation, complications, and short-term outcomes of neonates admitted with gastrointestinal emergencies to the NICU at Assiut University Children Hospital. Data will be collected from admission through discharge, including demographic, antenatal, natal, clinical, nutritional, laboratory, and radiological information, to identify the most common emergencies and factors associated with adverse outcomes.",[84,85,86,26],"Necrotizing Enterocolitis","Intestinal Atresia","Malrotation",[88,89,90,91],"Neonate","NICU","Gastrointestinal emergency","Intestinal obstruction","NOT_YET_RECRUITING","2026-04-09",{"date":95,"type":33},"2026-04-13",{"date":97,"type":22},"2026-05-01",{"date":99,"type":22},"2027-04-01",{"name":101,"class":40},"Assiut University",{"id":103,"slug":104,"hasResults":11,"nctId":105,"briefTitle":106,"officialTitle":107,"acronym":108,"eligibilityCriteria":109,"healthyVolunteers":11,"sex":17,"minAge":110,"maxAge":111,"enrollmentInfo":112,"targetDuration":4,"studyType":52,"phases":114,"briefSummary":115,"conditions":116,"keywords":119,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":124,"lastUpdatePostDateStruct":125,"startDateStruct":126,"completionDateStruct":128,"leadSponsor":130,"locationsCount":41},"100632917","improvement-of-understanding-of-pediatric-sacral-neuromodulation-therapeutic-strategies-and-outcome-variables-100632917","NCT07519915","Improvement of Understanding of Pediatric Sacral Neuromodulation: Therapeutic Strategies and Outcome Variables","Stimulation Modeling and Adaptive Response Tracking in Pediatric Gastrointestinal Motility Disorders","SMART-GUT","Inclusion Criteria:\n\n* informed consent of patient and care taker\n* gastrointestinal motility disorder, disregarding underlying diseases\n* exclusion of mechanical obstructions in the gastrointestinal passage\n* age between 3 and 18\n\nExclusion Criteria:\n\n* pregnancy\u002Fbreast feeding\n* decreased renal or thyroidal function\n* drug intake of Beta-blockers, antispasmodics, cyclopropane, bisulfite compounds, haloperidol, heroin, meperidine, metamizole, methadone, morphine, nitrofurantoin, opium alkaloids, phenobarbital, phenylbutazone, probenecid, rifamycin\n* contradictions for MRI\n* indication for analgosedation for MRI\n* inflammatory bowel diseases\n* fractures\u002Fdifferent anatomy in sacral region\n* epilepsy\n* presence of cardiac pacemakers","3 Years","18 Years",{"count":113,"type":22},25,[54],"The goal of this study is to learn about the effects of sacral neuromodulation in pediatric patients with gastrointestinal motility disorders. By combining advanced neuroimaging, patient-specific biophysical modeling, electrophysiological characterization, and clinical translation, the SMART-GUT project establishes a comprehensive framework to systematically investigate neuromodulation in this pediatric population. This integrative approach enables a direct link between mechanism, targeting, and clinical outcome.",[117,26,118],"Gastrointestinal Motility Disorders in Children","Constipation - Functional",[120,121,122,123],"pediatric gastrointestinal motility disorders","chronic constipation","Hirschsprung disease","sacral neuromodulation","2026-04-06",{"date":93,"type":33},{"date":127,"type":33},"2018-07-01",{"date":129,"type":22},"2029-12-31",{"name":131,"class":40},"Friedrich-Alexander-Universität Erlangen-Nürnberg",{"id":133,"slug":134,"hasResults":11,"nctId":135,"briefTitle":136,"officialTitle":137,"acronym":138,"eligibilityCriteria":139,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":140,"enrollmentInfo":141,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":143,"conditions":144,"keywords":145,"overallStatus":92,"whyStopped":4,"lastUpdateSubmitDate":150,"lastUpdatePostDateStruct":151,"startDateStruct":153,"completionDateStruct":155,"leadSponsor":157,"locationsCount":4},"100628970","surgical-approach-for-the-treatment-of-hirschsprung-disease-using-the-swenson-technique-smiles-100628970","NCT07468565","Surgical Approach for the Treatment of Hirschsprung Disease Using the Swenson Technique (SMILES)","A Bicenter Retrospective Comparative Study of the Surgical Approach for the Treatment of Hirschsprung Disease Using the Swenson Technique","SMILES","Inclusion Criteria:\n\n* Children under 16 years of age\n* Diagnosis of Hirschsprung disease confirmed by initial rectal biopsy and postoperative pathological examination\n* Primary Swenson coloanal pull-through performed at Angers or Caen University Hospital between January 1, 2010 and June 30, 2025\n\nExclusion criteria\n\n* Parental or legal guardian opposition to the use of medical data for research purposes\n* Hirschsprung disease treated with other surgical techniques (Duhamel, Soave, De La Torre, TERPT)\n* Patients operated on in another hospital\n* Patients who underwent rectosigmoid resection for causes of constipation other than Hirschsprung disease","16 Years",{"count":142,"type":22},70,"Hirschsprung disease (HD) is a rare congenital disorder of the enteric nervous system, affecting approximately 1 in 5,000 live births. It is characterized by the absence of ganglion cells in the distal colon, leading to functional intestinal obstruction due to impaired peristalsis. Surgical treatment consists of resection of the aganglionic segment-most commonly rectosigmoid-followed by a colo-rectal, colo-anal, or ileo-anal anastomosis.\n\nAmong colo-anal pull-through procedures, the Swenson technique was historically performed through an exclusively transanal approach, which carries a risk of sphincter injury correlated with operative duration. More recently, combined laparoscopic and transanal approaches have been developed to reduce this risk, although they may be associated with higher overall complication and reoperation rates.\n\nThe Swenson procedure can be performed using a single-port laparoscopic approach, a technique that is sparsely described in the literature and rarely practiced in France. Single-port laparoscopy represents an emerging surgical technique that, despite increased technical complexity for surgeons, may further enhance postoperative recovery and cosmetic outcomes compared to conventional multiport laparoscopy.\n\nThe objective of this study is to describe the outcomes of single-port laparoscopic Swenson pull-through in children with Hirschsprung disease and to compare them with outcomes obtained using more conventional approaches, namely exclusive transanal surgery or combined multiport laparoscopic and transanal approaches.",[26],[146,147,148,149,122],"Swenson Technique","Single-Port Laparoscopy","Pediatric surgery","Postoperative outcomes","2026-03-09",{"date":152,"type":33},"2026-03-12",{"date":154,"type":22},"2026-03-01",{"date":156,"type":22},"2027-06-01",{"name":158,"class":159},"University Hospital, Angers","OTHER_GOV",{"id":161,"slug":162,"hasResults":11,"nctId":163,"briefTitle":164,"officialTitle":165,"acronym":4,"eligibilityCriteria":166,"healthyVolunteers":11,"sex":17,"minAge":167,"maxAge":168,"enrollmentInfo":169,"targetDuration":4,"studyType":52,"phases":171,"briefSummary":172,"conditions":173,"keywords":177,"overallStatus":92,"whyStopped":4,"lastUpdateSubmitDate":182,"lastUpdatePostDateStruct":183,"startDateStruct":185,"completionDateStruct":187,"leadSponsor":189,"locationsCount":41},"100619361","robotlaparoscopic-assisted-transanal-transection-duhamel-versus-modified-soave-pull-through-for-tca-100619361","NCT07343622","Robot\u002FLaparoscopic-Assisted Transanal Transection Duhamel Versus Modified Soave Pull-Through for TCA","Robot\u002FLaparoscopic-Assisted Transanal Transection Duhamel Versus Modified Soave Pull-Through for Total Colonic Hirschsprung Disease: A Multicenter Controlled Trial","Inclusion Criteria:\n\n1. Definitive diagnosis of total colonic Hirschsprung disease confirmed by pathology from biopsy at neonatal enterostomy, consistent with total colonic aganglionosis.\n2. Two-stage surgical strategy: neonatal enterostomy performed first, followed by definitive pull-through as a second-stage procedure.\n3. Planned definitive reconstruction by one of the following techniques:\n4. Robot-assisted transanal transection Duhamel, orModified Soave pull-through (minimally invasive abdominal phase allowed).\n5. Availability for follow-up assessments and outcomes collection per protocol.\n\nExclusion Criteria:\n\n1. Trisomy 21 (Down syndrome).\n2. Definitive surgery performed by open laparotomy approach or Swenson procedure.\n3. One-stage primary pull-through without neonatal enterostomy (single-stage definitive management).","1 Month","14 Years",{"count":170,"type":22},50,[54],"Total colonic Hirschsprung disease (TCA) is the most severe form of Hirschsprung disease and is commonly managed with neonatal enterostomy followed by delayed definitive pull-through. Despite widespread use, the optimal reconstructive procedure for TCA remains uncertain. The Duhamel and modified Soave pull-through procedures are the two most frequently adopted techniques, each with distinct theoretical advantages and limitations regarding bowel function, enterocolitis risk, and anorectal physiology. With the increasing application of minimally invasive and robot-assisted surgery, both procedures have been further refined; however, robust comparative evidence, particularly for total colonic disease, is lacking. To date, no multicenter study has provided a detailed comparison of postoperative functional outcomes and Hirschsprung-associated enterocolitis between transanal transection Duhamel and modified Soave procedures. This multicenter study compares robot-assisted transanal transection Duhamel and modified Soave pull-through in patients with pathologically confirmed TCA after neonatal enterostomy, focusing on postoperative bowel function and enterocolitis incidence.",[174,26,175,176],"Total Colonic Aganglionosis","Duhamel","Soave",[178,179,180,181,122],"Robotic surgery","total colonic aganglionosis","modified Duhamel procedure","modified Soave procedure","2026-01-14",{"date":184,"type":33},"2026-01-15",{"date":186,"type":22},"2026-01-30",{"date":188,"type":22},"2027-12-31",{"name":190,"class":40},"Zunyi Medical College",{"id":192,"slug":193,"hasResults":11,"nctId":194,"briefTitle":195,"officialTitle":196,"acronym":4,"eligibilityCriteria":197,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":198,"targetDuration":200,"studyType":23,"phases":4,"briefSummary":201,"conditions":202,"keywords":228,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":234,"lastUpdatePostDateStruct":235,"startDateStruct":236,"completionDateStruct":238,"leadSponsor":240,"locationsCount":41},"100560175","institutional-registry-of-rare-diseases-100560175","NCT06573723","Institutional Registry of Rare Diseases","Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)","Inclusion Criteria:\n\n* Clinical and\u002For molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.\n* Must be followed at Hospital Italiano de Buenos Aires.\n\nExclusion Criteria:\n\n\\- Refusal to participate in the study or in the informed consent process.",{"count":199,"type":22},380,"10 Years","The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).\n\nMoreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.",[203,204,205,206,207,208,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,26,225,226,227],"Rare Diseases","Amyloidosis","Sarcoidosis","Phacomatosis","Pheochromocytoma","Paraganglioma","Von Hippel-Lindau Disease","Immunoglobulin G4-Related Disease","Demyelinating Diseases","Inborn Errors of Metabolism","Eosinophilic Gastrointestinal Disorders","Hypertrophic Cardiomyopathy","Gaucher Disease","Congenital Adrenal Hyperplasia","Hereditary Angioedema","Pulmonary Hypertension","Wilson Disease","Vascular Anomalies","Mastocytosis","Multiple Endocrine Neoplasia","Inflammatory Bowel Diseases","Prader-Willi Syndrome","Cushing Syndrome","HHT","Hemorrhagic Hereditary Telangiectasia",[229,230,231,206,232,233,209,210,211,212,213,214,215,216,217,218,219,220,221,222,223,224,26,225,227],"rare diseases","amyloidosis","sarcoidosis","pheochromocytoma","paraganglioma","2026-01-12",{"date":182,"type":33},{"date":237,"type":33},"2024-07-01",{"date":239,"type":22},"2034-12-31",{"name":241,"class":40},"Hospital Italiano de Buenos Aires",{"id":243,"slug":244,"hasResults":11,"nctId":245,"briefTitle":246,"officialTitle":247,"acronym":4,"eligibilityCriteria":248,"healthyVolunteers":11,"sex":17,"minAge":249,"maxAge":111,"enrollmentInfo":250,"targetDuration":4,"studyType":52,"phases":252,"briefSummary":253,"conditions":254,"keywords":4,"overallStatus":92,"whyStopped":4,"lastUpdateSubmitDate":255,"lastUpdatePostDateStruct":256,"startDateStruct":258,"completionDateStruct":260,"leadSponsor":261,"locationsCount":4},"100605012","effects-of-physiotherapy-in-children-with-hirschsprungs-disease-100605012","NCT07156981","Effects of Physiotherapy in Children With Hirschsprung's Disease","Investigation of Effects of Physiotherapy in Children With Hirschsprung's Disease","Inclusion Criteria:\n\n* Children aged 5-18 who have undergone surgery for Hirschsprung's disease and have intestinal symptoms, and who come for routine check-ups.\n* Volunteering to participate in the study\n\nExclusion Criteria:\n\n* Presence of a congenital and\u002For chronic disease\n* Those with missing assessment parameters\n* Having a history of any additional orthopedic, neurological or psychiatric disease that will affect the evaluation parameters\n* Loss of sensation\n* Mental retardation","5 Years",{"count":251,"type":22},20,[54],"The aim of our study is to investigate the effects of physiotherapy in children with Hirschsprung's disease who have bowel symptoms after surgery.",[26],"2025-08-28",{"date":257,"type":33},"2025-09-05",{"date":259,"type":22},"2025-09-30",{"date":186,"type":22},{"name":262,"class":40},"Ankara Yildirim Beyazıt University",{"id":264,"slug":265,"hasResults":11,"nctId":266,"briefTitle":267,"officialTitle":268,"acronym":269,"eligibilityCriteria":270,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":271,"targetDuration":19,"studyType":23,"phases":4,"briefSummary":273,"conditions":274,"keywords":616,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":658,"lastUpdatePostDateStruct":659,"startDateStruct":661,"completionDateStruct":663,"leadSponsor":665,"locationsCount":667},"100193378","rare-disease-patient-registry--natural-history-study---coordination-of-rare-diseases-at-sanford-100193378","NCT01793168","Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford","Coordination of Rare Diseases at Sanford","CoRDS","Inclusion Criteria:\n\n* Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare\u002Funcommon disease\n\nExclusion Criteria:\n\n* Diagnosis of a disease which is not rare",{"count":272,"type":22},20000,"CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org\u002FCoRDS to enroll.",[275,276,277,278,279,280,281,282,283,284,285,286,287,288,289,290,291,292,293,294,295,296,297,298,299,300,301,302,303,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320,321,322,323,324,325,326,327,328,329,330,331,332,333,334,335,336,337,338,339,340,341,342,343,344,345,346,347,348,349,350,351,352,353,354,355,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374,375,376,377,378,379,380,381,382,383,384,385,386,387,388,389,390,391,392,393,394,395,396,397,398,399,400,401,402,403,404,405,406,407,408,409,410,411,412,413,414,415,416,417,418,419,420,421,422,423,424,425,426,427,428,429,430,431,432,433,434,435,436,437,438,439,440,441,442,443,444,445,446,447,448,449,450,451,452,453,454,455,456,457,458,459,460,461,462,463,464,465,466,467,468,469,470,471,472,473,474,475,476,477,478,479,480,481,482,483,484,485,486,487,488,489,490,491,492,493,494,495,496,497,498,222,499,500,501,502,503,504,505,506,507,508,509,510,511,512,513,514,515,516,517,518,519,520,521,522,523,524,525,526,527,528,529,530,531,532,533,534,535,536,537,538,539,540,541,542,543,544,545,546,547,548,549,550,551,552,553,554,555,556,557,558,559,26,560,561,562,563,564,565,566,567,568,569,570,571,572,573,574,575,576,577,578,579,580,581,582,583,584,585,586,587,588,589,590,591,592,593,594,595,596,597,598,599,600,601,602,603,604,605,606,607,608,609,610,611,612,613,614,615],"Rare Disorders","Undiagnosed Disorders","Disorders of Unknown Prevalence","Cornelia De Lange Syndrome","Prenatal Benign Hypophosphatasia","Perinatal Lethal Hypophosphatasia","Odontohypophosphatasia","Adult Hypophosphatasia","Childhood-onset Hypophosphatasia","Infantile Hypophosphatasia","Hypophosphatasia","Kabuki Syndrome","Bohring-Opitz Syndrome","Narcolepsy Without Cataplexy","Narcolepsy-cataplexy","Hypersomnolence Disorder","Idiopathic Hypersomnia Without Long Sleep Time","Idiopathic Hypersomnia With Long Sleep Time","Idiopathic Hypersomnia","Kleine-Levin Syndrome","Kawasaki Disease","Leiomyosarcoma","Leiomyosarcoma of the Corpus Uteri","Leiomyosarcoma of the Cervix Uteri","Leiomyosarcoma of Small Intestine","Acquired Myasthenia Gravis","Addison Disease","Hyperacusis (Hyperacousis)","Juvenile Myasthenia Gravis","Transient Neonatal Myasthenia Gravis","Williams Syndrome","Lyme Disease","Myasthenia Gravis","Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)","Isolated Klippel-Feil Syndrome","Frasier Syndrome","Denys-Drash Syndrome","Beckwith-Wiedemann Syndrome","Emanuel Syndrome","Isolated Aniridia","Axenfeld-Rieger Syndrome","Aniridia-intellectual Disability Syndrome","Aniridia - Renal Agenesis - Psychomotor Retardation","Aniridia - Ptosis - Intellectual Disability - Familial Obesity","Aniridia - Cerebellar Ataxia - Intellectual Disability","Aniridia - Absent Patella","Aniridia","Peters Anomaly - Cataract","Peters Anomaly","Potocki-Shaffer Syndrome","Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11","Silver-Russell Syndrome Due to Imprinting Defect of 11p15","Silver-Russell Syndrome Due to 11p15 Microduplication","Syndromic Aniridia","WAGR Syndrome","Wolf-Hirschhorn Syndrome","4p16.3 Microduplication Syndrome","4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome","Autosomal Recessive Stickler Syndrome","Stickler Syndrome Type 2","Stickler Syndrome Type 1","Stickler Syndrome","Mucolipidosis Type 4","X-linked Spinocerebellar Ataxia Type 4","X-linked Spinocerebellar Ataxia Type 3","X-linked Intellectual Disability - Ataxia - Apraxia","X-linked Progressive Cerebellar Ataxia","X-linked Non Progressive Cerebellar Ataxia","X-linked Cerebellar Ataxia","Vitamin B12 Deficiency Ataxia","Toxic Exposure Ataxia","Unclassified Autosomal Dominant Spinocerebellar Ataxia","Thyroid Antibody Ataxia","Sporadic Adult-onset Ataxia of Unknown Etiology","Spinocerebellar Ataxia With Oculomotor Anomaly","Spinocerebellar Ataxia With Epilepsy","Spinocerebellar Ataxia With Axonal Neuropathy Type 2","Spinocerebellar Ataxia Type 8","Spinocerebellar Ataxia Type 7","Spinocerebellar Ataxia Type 6","Spinocerebellar Ataxia Type 5","Spinocerebellar Ataxia Type 4","Spinocerebellar Ataxia Type 37","Spinocerebellar Ataxia Type 36","Spinocerebellar Ataxia Type 35","Spinocerebellar Ataxia Type 34","Spinocerebellar Ataxia Type 32","Spinocerebellar Ataxia Type 31","Spinocerebellar Ataxia Type 30","Spinocerebellar Ataxia Type 3","Spinocerebellar Ataxia Type 29","Spinocerebellar Ataxia Type 28","Spinocerebellar Ataxia Type 27","Spinocerebellar Ataxia Type 26","Spinocerebellar Ataxia Type 25","Spinocerebellar Ataxia Type 23","Spinocerebellar Ataxia Type 22","Spinocerebellar Ataxia Type 21","Spinocerebellar Ataxia Type 20","Spinocerebellar Ataxia Type 2","Spinocerebellar Ataxia Type 19\u002F22","Spinocerebellar Ataxia Type 18","Spinocerebellar Ataxia Type 17","Spinocerebellar Ataxia Type 16","Spinocerebellar Ataxia Type 15\u002F16","Spinocerebellar Ataxia Type 14","Spinocerebellar Ataxia Type 13","Spinocerebellar Ataxia Type 12","Spinocerebellar Ataxia Type 11","Spinocerebellar Ataxia Type 10","Spinocerebellar Ataxia Type 1 With Axonal Neuropathy","Spinocerebellar Ataxia Type 1","Spinocerebellar Ataxia - Unknown","Spinocerebellar Ataxia - Dysmorphism","Non Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Spasticity-ataxia-gait Anomalies Syndrome","Spastic Ataxia With Congenital Miosis","Spastic Ataxia - Corneal Dystrophy","Spastic Ataxia","Rare Hereditary Ataxia","Rare Ataxia","Recessive Mitochondrial Ataxia Syndrome","Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Posterior Column Ataxia - Retinitis Pigmentosa","Post-Stroke Ataxia","Post-Head Injury Ataxia","Post Vaccination Ataxia","Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract","Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus","Non-hereditary Degenerative Ataxia","Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity","Olivopontocerebellar Atrophy - Deafness","NARP Syndrome","Myoclonus - Cerebellar Ataxia - Deafness","Multiple System Atrophy, Parkinsonian Type","Multiple System Atrophy, Cerebellar Type","Multiple System Atrophy","Maternally-inherited Leigh Syndrome","Machado-Joseph Disease Type 3","Machado-Joseph Disease Type 2","Machado-Joseph Disease Type 1","Leigh Syndrome","Late-onset Ataxia With Dementia","Infection or Post Infection Ataxia","GAD Ataxia","Hereditary Episodic Ataxia","Gliadin\u002FGluten Ataxia","Friedreich Ataxia","Fragile X-associated Tremor\u002FAtaxia Syndrome","Familial Paroxysmal Ataxia","Exposure to Medications Ataxia","Episodic Ataxia With Slurred Speech","Episodic Ataxia Unknown Type","Episodic Ataxia Type 7","Episodic Ataxia Type 6","Episodic Ataxia Type 5","Episodic Ataxia Type 4","Episodic Ataxia Type 3","Episodic Ataxia Type 1","Epilepsy and\u002For Ataxia With Myoclonus as Major Feature","Early-onset Spastic Ataxia-neuropathy Syndrome","Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity","Early-onset Cerebellar Ataxia With Retained Tendon Reflexes","Early-onset Ataxia With Dementia","Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia","Dilated Cardiomyopathy With Ataxia","Cataract - Ataxia - Deafness","Cerebellar Ataxia, Cayman Type","Cerebellar Ataxia With Peripheral Neuropathy","Cerebellar Ataxia - Hypogonadism","Cerebellar Ataxia - Ectodermal Dysplasia","Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss","Brain Tumor Ataxia","Brachydactyly - Nystagmus - Cerebellar Ataxia","Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia","Autosomal Recessive Syndromic Cerebellar Ataxia","Autosomal Recessive Spastic Ataxia With Leukoencephalopathy","Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria","Autosomal Recessive Spastic Ataxia","Autosomal Recessive Metabolic Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine","Autosomal Recessive Ataxia, Beauce Type","Autosomal Recessive Ataxia Due to Ubiquinone Deficiency","Autosomal Recessive Ataxia Due to PEX10 Deficiency","Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia","Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia","Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome","Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity","Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency","Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect","Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion","Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation","Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness","Autosomal Recessive Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly","Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation","Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy","Autosomal Dominant Spastic Ataxia Type 1","Autosomal Dominant Spastic Ataxia","Autosomal Dominant Optic Atrophy","Ataxia-telangiectasia Variant","Ataxia-telangiectasia","Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy","Autosomal Dominant Cerebellar Ataxia Type 4","Autosomal Dominant Cerebellar Ataxia Type 3","Autosomal Dominant Cerebellar Ataxia Type 2","Autosomal Dominant Cerebellar Ataxia Type 1","Autosomal Dominant Cerebellar Ataxia","Ataxia-telangiectasia-like Disorder","Ataxia With Vitamin E Deficiency","Ataxia With Dementia","Ataxia - Oculomotor Apraxia Type 1","Ataxia - Other","Ataxia - Genetic Diagnosis - Unknown","Acquired Ataxia","Adult-onset Autosomal Recessive Cerebellar Ataxia","Alcohol Related Ataxia","Multiple Endocrine Neoplasia Type II","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Multiple Endocrine Neoplasia, Type IV","Multiple Endocrine Neoplasia, Type 3","Multiple Endocrine Neoplasia (MEN) Syndrome","Multiple Endocrine Neoplasia Type 2B","Multiple Endocrine Neoplasia Type 2A","Atypical Hemolytic Uremic Syndrome","Atypical HUS","Wiedemann-Steiner Syndrome","Breast Implant-Associated Anaplastic Large Cell Lymphoma","Autoimmune\u002FInflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis","Behcet's Disease","Alagille Syndrome","Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)","Lowe Syndrome","Pitt Hopkins Syndrome","1p36 Deletion Syndrome","Jansen Type Metaphyseal Chondrodysplasia","Cockayne Syndrome","Chronic Recurrent Multifocal Osteomyelitis","CRMO","Malan Syndrome","Hereditary Sensory and Autonomic Neuropathy Type Ie","VCP Disease","Hypnic Jerking","Sleep Myoclonus","Mollaret Meningitis","Recurrent Viral Meningitis","CRB1","Leber Congenital Amaurosis","Retinitis Pigmentosa","Rare Retinal Disorder","KCNMA1-Channelopathy","Primary Biliary Cirrhosis","ZMYND11","Transient Global Amnesia","Glycogen Storage Disease","Alstrom Syndrome","White Sutton Syndrome","DNM1","EIEE31","Myhre Syndrome","Recurrent Respiratory Papillomatosis","Laryngeal Papillomatosis","Tracheal Papillomatosis","Refsum Disease","Nicolaides Baraitser Syndrome","Leukodystrophy","Tango2","Cauda Equina Syndrome","Rare Gastrointestinal Disorders","Achalasia-Addisonian Syndrome","Achalasia Cardia","Achalasia Icrocephaly Syndrome","Anal Fistula","Congenital Sucrase-Isomaltase Deficiency","Eosinophilic Gastroenteritis","Idiopathic Gastroparesis","Rare Inflammatory Bowel Disease","Intestinal Pseudo-Obstruction","Scleroderma","Short Bowel Syndrome","Sacral Agenesis","Sacral Agenesis Syndrome","Caudal Regression","Scheuermann Disease","SMC1A Truncated Mutations (Causing Loss of Gene Function)","Cystinosis","Juvenile Nephropathic Cystinosis","Nephropathic Cystinosis","Kennedy Disease","Spinal Bulbar Muscular Atrophy","Warburg Micro Syndrome","Mucolipidoses","Mitochondrial Diseases","Mitochondrial Aminoacyl-tRNA Synthetases","Mt-aaRS Disorders","Hypertrophic Olivary Degeneration","Non-Ketotic Hyperglycinemia","Fish Odor Syndrome","Halitosis","Isolated Congenital Asplenia","Lambert Eaton (LEMS)","Biliary Atresia","STAG1 Gene Mutation","Coffin Lowry Syndrome","Borjeson-Forssman-Lehman Syndrome","Blau Syndrome","Arginase 1 Deficiency","HSPB8 Myopathy","Beta-Mannosidosis","TBX4 Syndrome","DHDDS Gene Mutations","MAND-MBD5-Associated Neurodevelopmental Disorder","Constitutional Mismatch Repair Deficiency (CMMRD)","SPATA5 Disorder","SPATA5L1 Related Disorder","Acrodysostosis","Multi-systematic Smooth Muscle Dysfunction Syndrome","CRELD1 (Cysteine Rich With EGF Like Domains 1)","GNB1 Syndrome","Pyruvate Dehydrogenase Complex Deficiency Disease","Beta Mannosidosis","Kbg Syndrome","Labrune Syndrome","Metachromatic Leukodystrophy (MLD)","Moyamoya Disease","OPHN1 Syndrome","Oculopharyngeal Muscular Dystrophy (OPMD)","TUBB3 Mutation","WOREE (WWOX-related Epileptic Encephalopathy","SCAR12","Skraban-Deardorff Syndrome","Hereditary Myopathy With Early Respiratory Failure",[203,617,618,619,620,329,621,622,336,623,295,624,625,626,222,507,627,628,286,629,630,294,631,296,632,285,633,634,510,635,636,513,514,637,516,517,638,639,520,640,641,642,569,643,644,645,646,647,648,649,574,650,651,652,579,580,653,654,655,656,657],"Neglected Diseases","Orphan Diseases","Rare Disease Research","Registries","Ataxia","Cornelia de Lange Syndrome","Ataxia Telangiectasia","Batten Disease","Mucolipidosis IV","Klippel-Feil Syndrome","Undiagnosed","Uncommon Disease","Hypersomnia","Hyperacusis","Marinesco-Sjogren Syndrome","4p-\u002FWolf-Hirschhorn Syndrome","Narcolepsy","Wiedermann-Steiner Syndrome","Autoimmune\u002Finflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis (HLH)","Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)","1p36 deletion syndrome","Jansen metaphyseal chondrodysplasia","Chronic recurrent multifocal osteomyelitis (CRMO)","Malan syndrome","Hereditary Sensory and Autonomic Neuropathy","Juvenile nephropathic cystinosis","Nephropathic infantile cystinosis","Ocular cystinosis","Kennedy disease","Spinal Bulbar Muscular Atrophy (SBMA)","SMC1A Truncated Mutations (causing loss of gene function)","Leigh syndrome","Mucolipidosis","Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)","Shine Syndrome","Intestinal Bromhidrosis Syndrome","Fish odor syndrome","Autosomal recessive extra oral halitosis","CACNA1H mutation","Dimethylglycine dehydrogenase deficiency","2025-05-22",{"date":660,"type":33},"2025-05-29",{"date":662,"type":33},"2010-07",{"date":664,"type":22},"2100-12",{"name":666,"class":40},"Sanford Health",2,{"id":669,"slug":670,"hasResults":11,"nctId":671,"briefTitle":672,"officialTitle":672,"acronym":673,"eligibilityCriteria":674,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":675,"targetDuration":4,"studyType":52,"phases":676,"briefSummary":677,"conditions":678,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":679,"lastUpdatePostDateStruct":680,"startDateStruct":682,"completionDateStruct":684,"leadSponsor":686,"locationsCount":41},"100566092","impact-of-providing-nursing-support-on-parental-stress-related-to-preoperative-care-of-a-newborn-with-hirschsprungs-disease-100566092","NCT06650683","Impact of Providing Nursing Support on Parental Stress Related to Preoperative Care of a Newborn with Hirschsprung's Disease","HirscHAD","Inclusion Criteria:\n\n* Families (one or two parents) with a newborn or infant under 2 months with confirmed or suspected Hirschsprung disease, for whom nursings are effective and performed 1 to 2 times a day while waiting for surgery.\n* With a possible return home before surgery\n* With an information leaflet and non-opposition form signed by one or both parent(s) or by the legal representative.\n\nExclusion Criteria:\n\n* The absence of daily nursings\n* Initial ineffectiveness of nursings requiring a digestive stoma\n* Failure to return home before surgery\n* Refusal of one or both parent(s) or legal representative(s)",{"count":251,"type":22},[54],"Impact of providing nursing support on parental stress related to preoperative care of a newborn with Hirschsprung's disease",[26],"2024-10-17",{"date":681,"type":33},"2024-10-21",{"date":683,"type":33},"2023-08-14",{"date":685,"type":22},"2026-02-12",{"name":687,"class":40},"Assistance Publique Hopitaux De Marseille",{"id":689,"slug":690,"hasResults":11,"nctId":691,"briefTitle":692,"officialTitle":692,"acronym":693,"eligibilityCriteria":694,"healthyVolunteers":11,"sex":17,"minAge":48,"maxAge":695,"enrollmentInfo":696,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":697,"conditions":698,"keywords":701,"overallStatus":92,"whyStopped":4,"lastUpdateSubmitDate":704,"lastUpdatePostDateStruct":705,"startDateStruct":707,"completionDateStruct":709,"leadSponsor":711,"locationsCount":4},"100561620","babies-with-enterocolitis---a-study-of-faecal-calprotectin-in-hirschsprung-disease-the-beach-study-100561620","NCT06592534","Babies With Enterocolitis - A Study of Faecal Calprotectin in Hirschsprung Disease (The BEACH Study)","BEACH","Inclusion criteria:\n\n\\- Any infant or child under the age of 5 years at the time of recruitment with biopsy proven Hirschsprung's Disease\n\nExclusion criteria:\n\n* Infants or children who do not have biopsy proven Hirschsprung's Disease\n* Individuals with total colonic Hirschsprung's Disease\n* Individuals with Hirschsprung's Disease which affects the small bowel\n* Children aged 5 years and over at the time of recruitment\n* Children with inflammatory bowel disease","4 Years",{"count":170,"type":22},"Babies with Hirschsprung's Disease are born without normal nerves to the end of their bowel which means they cannot poo properly, and are at high risk of infection of the bowel, called enterocolitis. 1 in 4 children with Hirschsprung's Disease develop enterocolitis and, if not treated quickly, it can lead to death. The symptoms include a swollen tummy, temperatures and diarrhoea but it can be hard to spot, especially in the early stages, and there is no test for it.\n\nIn some diseases, a substance called calprotectin is found in the poo when the bowel is inflamed. The investigators plan to collect poo samples from children with Hirschsprung's Disease and measure the calprotectin, to see if it can help the investigators predict which children are at highest risk of enterocolitis. When the investigators collect the poo we will ask parents some questions about their child's diet and poos over the week before, and how easy it was to collect the sample.\n\nThis is a pilot study, which means the investigators don't expect to get a definite answer to whether measuring calprotectin levels will change treatment for children with Hirschsprung's disease. However, it will help the investigators find out if calprotectin levels are a useful test for bowel inflammation in these children and will tell us what parents' views are on collecting poo samples regularly. If it does look like measuring calprotectin is a useful test in Hirschsprung's disease, the investigators will do more studies to find out if some children may benefit from more intensive treatment.",[699,26,700],"Hirschprung's Disease","Hirschsprung's Disease Associated Enterocolitis",[702,703],"Faecal Calprotectin","Enterocolitis","2024-09-13",{"date":706,"type":33},"2024-09-19",{"date":708,"type":22},"2024-10",{"date":710,"type":22},"2026-10",{"name":712,"class":40},"Alder Hey Children's NHS Foundation Trust",{"id":714,"slug":715,"hasResults":11,"nctId":716,"briefTitle":717,"officialTitle":718,"acronym":719,"eligibilityCriteria":720,"healthyVolunteers":11,"sex":17,"minAge":721,"maxAge":722,"enrollmentInfo":723,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":725,"conditions":726,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":727,"lastUpdatePostDateStruct":728,"startDateStruct":729,"completionDateStruct":731,"leadSponsor":733,"locationsCount":41},"100561436","hirschsprungs-advances-working-towards-autologous-tissue-therapies-100561436","NCT06590142","Hirschsprung's Advances; Working Towards Autologous tIssue therapIes","Investigating the Interaction of the Enteric Nervous System With the Extrinsic Nervous System and the Immune System in Children and Development of Cell Therapies for Hirschsprung's Disease","HAWAII","Inclusion Criteria:\n\n• Any child undergoing therapeutic intestinal resection (but specifically those in which it is not necessary for all resected tissue to be sent for histopathological analysis, as no additional tissue will be removed for research purposes).\n\nExclusion Criteria:\n\n• None","0 Years","15 Years",{"count":724,"type":22},300,"Children with Hirschsprung's Disease (HSCR) have no normal nerve cells in the lower end of their bowel. This can cause babies to die if left untreated treated. Currently the part of bowel that doesn't have normal nerves is removed with an operation, but this can have long-term complications including needing a permanent bag on the tummy for poo (stoma). Because of this there is an urgent need for better treatments.\n\nThe investigators have found that children with HSCR have nerve stem cells throughout their bowel, even in the lower end where the nerves haven't grown normally. We can grow these stem cells in the laboratory to form balls of nerve cells (neurospheres). The investigators want to find out whether these neurospheres grow into the nerves that are needed for the bowel to work normally. First the investigators will see how the nerve stem cells from the lower end of the bowel grow compared to those from the normal bowel. Then the investigators will see if the neurospheres change when the investigators put them with medications that affect growth of bowel nerves.\n\nAt the end of this project the investigators hope to know whether the nerve stem cells at the lower part of the bowel in children with HSCR can turn into bowel nerve cells that might make the bowel work normally. The investigators also hope to know whether the investigators can use medications to make the stem cells turn into normal nerves, meaning that children with HSCR could avoid an operation and a stoma.",[26],"2024-09-06",{"date":706,"type":33},{"date":730,"type":33},"2024-03-05",{"date":732,"type":22},"2036-03-01",{"name":712,"class":40},{"id":735,"slug":736,"hasResults":11,"nctId":737,"briefTitle":738,"officialTitle":739,"acronym":4,"eligibilityCriteria":740,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":111,"enrollmentInfo":741,"targetDuration":200,"studyType":23,"phases":4,"briefSummary":743,"conditions":744,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":745,"lastUpdatePostDateStruct":746,"startDateStruct":747,"completionDateStruct":749,"leadSponsor":751,"locationsCount":41},"100410277","registry-for-hirschsprung-disease-of-the-belaps-100410277","NCT04622410","Registry for Hirschsprung Disease of the BELAPS","Registry for Hirschsprung Disease of the BELAPS (Belgian Association of Pediatric Surgery)","Inclusion Criteria:\n\nHirschsprung Disease, surgery\n\nExclusion Criteria:\n\n\\-",{"count":742,"type":22},432,"Registry for Hirschsprung disease of the BELAPS (Belgian Association of Pediatric Surgery) Protocol Short Title\u002FAcronym\n\n\u002F Sponsor name BELAPS Principal Investigator Prof. Dr. Marc Miserez Medical condition or disease under investigation Hirschsprung's disease Purpose of clinical study To register pre-, intra- and postoperative data in order to improve surgical care to paediatric patients with Hirschsprung's disease in Belgium. Primary objective The primary objective is to evaluate defecation habits at 3.5-5.5 years after surgery. Secondary objective (s) Evaluating the long-term results and evaluate risk factors for constipation \u002F incontinence. Study Design Prospective registry Endpoints Krickenbeck score, urinary, sexual and QoL evaluation",[26],"2024-06-28",{"date":237,"type":33},{"date":748,"type":33},"2012-05-01",{"date":750,"type":22},"2030-12-31",{"name":752,"class":40},"Universitaire Ziekenhuizen KU Leuven",{"id":754,"slug":755,"hasResults":11,"nctId":756,"briefTitle":757,"officialTitle":757,"acronym":758,"eligibilityCriteria":759,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":760,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":762,"conditions":763,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":765,"lastUpdatePostDateStruct":766,"startDateStruct":768,"completionDateStruct":770,"leadSponsor":772,"locationsCount":41},"100473907","long-term-qualitative-and-quantitative-outcomes-of-children-with-hirschsprungs-disease-and-anorectal-malformations-100473907","NCT05450991","Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung's Disease and Anorectal Malformations","ALOHA","Inclusion Criteria:\n\n* All children treated at either center with histologically confirmed Hirschsprung's Disease since diagnosis from 1991\n* All children diagnosed with anorectal malformation on the basis of position in relation to the external sphincter and size\n\nExclusion Criteria:\n\n* Patients with non-histologically diagnosed Hirschsprung's Disease\n* Patients whose initial primary treatment or majority of follow-up for either condition has been external to either center\n* Patients with funnel anus\n* Adults who are unable to consent for themselves",{"count":761,"type":22},1200,"Approximately 340 babies are born with Hirschsprung's disease (HSCR) or an anorectal malformation (ARM) per year in the UK. Most require corrective surgery in the newborn or early infancy period. In both conditions, there is both variability in the severity of the condition and the type of operative technique used. Many children do well following surgery and have good continence in later life. However a significant proportion of children suffer from a lifetime of constipation or incontinence. This has a significant impact on their social and psychological welfare and is a significant burden on healthcare resources.\n\nDue to the variation in practice, there are limited data on long-term outcomes following surgery for children with HSCR or ARMs. Where studies have been performed, they often include small numbers, non-standardised outcome measures and short follow-up periods. It is therefore difficult to ascertain the effectiveness of different management strategies. However, a recent Delphi process has been carried out to establish 10 core measures in HSCR to improve outcome reporting. This research group has a long track record in this research area, specifically in the determination of long-term outcomes of children with HSCR, leading to well cited papers within the literature. In the last 2 decades there has been a significant change in the surgical techniques used in HSCR, however the underlying evidence base for this is still lacking. This study seeks to follow-on from previous studies looking specifically at the long-term outcomes in children with HSCR. Furthermore, the aim is to widen the study to encompass all children treated at Alder Hey and also to use the same methodology to assess long-term outcomes for children with ARMs, as both groups of patients experience similar long term morbidity.\n\nThis will provide qualitative and quantitative data aiding counselling parents of children with HSCR\u002FARM.",[26,764],"Anorectal Malformations","2024-01-29",{"date":767,"type":33},"2024-01-30",{"date":769,"type":33},"2022-01-25",{"date":771,"type":22},"2028-12-01",{"name":712,"class":40}]