Hirschsprung Disease
Information
- Disease name
- Hirschsprung Disease
- Disease ID
- Description
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| RET | 10 | 43,077,069 | 43,130,351 | 16 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04020939 | Completed | N/A | The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery. | March 16, 2020 | March 10, 2021 |
| NCT04476225 | Completed | Induced Pluripotent Stem Cells for Disease Research | April 15, 2022 | October 3, 2022 | |
| NCT04598841 | Completed | N/A | Nutrition Support for Hirschsprung Disease | January 1, 2021 | October 31, 2022 |
| NCT00630838 | Completed | Phase 2 | Probiotic Prophylaxis of Hirschprung's Disease Associated Enterocolitis (HAEC) | September 2006 | September 2010 |
| NCT05044741 | Completed | Risk Factors of Perforated HSCR in Neonates | January 1, 2006 | December 31, 2019 | |
| NCT01985646 | Completed | Early Phase 1 | A Trial on Conservative Treatment for Infants' Hirschsprung Disease | October 2009 | |
| NCT01515501 | Completed | N/A | Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial) | October 2007 | August 2018 |
| NCT05038345 | Completed | Hirschsprung Disease Trends | March 13, 2019 | August 15, 2021 | |
| NCT02296008 | Completed | N/A | 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders | April 1, 2013 | December 31, 2016 |
| NCT04957667 | Completed | Scintigraphic Defecography for Evaluation of Functional Outcome in an Adult Hirschsprung Population | February 1, 2020 | December 1, 2021 | |
| NCT04837963 | Completed | Does Hirschsprung Disease Increase the Risk of Febrile Urinary Tract Infection in Children | May 16, 2021 | July 30, 2021 | |
| NCT02857205 | Completed | N/A | MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung's Associated EnteroColitis | June 2016 | September 2018 |
| NCT04730128 | Completed | Translation and Validation of a Disease-specific Questionnaire for Hirschsprung's Disease in Danish Patients | July 1, 2020 | May 15, 2021 | |
| NCT03666767 | Completed | Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries | October 1, 2018 | February 9, 2020 | |
| NCT04150120 | Enrolling by invitation | N/A | eHealth as an Aid for Facilitating and Supporting Self-management in Families With Long-term Childhood Illness | October 15, 2019 | December 31, 2024 |
| NCT06197061 | Recruiting | N/A | Comparison of Robot-assisted With Laparoscopic-assisted Modified Soave Procedure for Classical Hirschsprung Disease | February 7, 2020 | October 10, 2024 |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT02193685 | Recruiting | Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease | February 2010 | December 2025 | |
| NCT04622410 | Recruiting | Registry for Hirschsprung Disease of the BELAPS | May 1, 2012 | December 31, 2030 | |
| NCT04904081 | Recruiting | Phase 3 | Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery | June 16, 2021 | July 2024 |
| NCT05293353 | Recruiting | Neokare Safety and Tolerability Assessment in Neonates With GI Problems | June 9, 2022 | June 2023 | |
| NCT05450991 | Recruiting | Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung's Disease and Anorectal Malformations | January 25, 2022 | December 1, 2028 | |
| NCT05655845 | Recruiting | Risk Factors for Bowel Dysfunction at Preschool and Early Childhood Age in Children With Hirschsprung Disease | August 20, 2022 | August 30, 2023 | |
| NCT06072976 | Recruiting | N/A | The Influence of Feeding Source on the Gut Microbiome and Time to Full Feeds in Neonates With Congenital Gastrointestinal Pathologies | June 9, 2023 | June 9, 2025 |
| NCT00478712 | Recruiting | Hirschsprung Disease Genetic Study | January 2001 | December 2028 | |
| NCT04624334 | Terminated | Non-invasive Assessment of Colonic Motility | February 25, 2021 | May 12, 2022 | |
| NCT02343562 | Unknown status | Phase 4 | Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis | October 2014 | December 2018 |
| NCT02216994 | Unknown status | N/A | A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis --a Prospective Study | January 2013 | June 2015 |
| NCT04213976 | Unknown status | Ostomy in Continuity or Conventional Ileostomy: a Retrospective Multicentric Analysis | January 1, 2020 | December 31, 2020 | |
| NCT04149093 | Unknown status | The Association Between Calretinin and the Function of Ganglion Cells in Hirschsprung Disease | May 1, 2020 | December 1, 2021 | |
| NCT04106947 | Unknown status | Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations | August 12, 2019 | August 2022 | |
| NCT01927809 | Unknown status | Genetic Mosaicism in Hirschsprung's Disease | April 2013 | August 2021 | |
| NCT03269812 | Unknown status | N/A | Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease | September 1, 2017 | October 1, 2019 |
| NCT05307419 | Unknown status | N/A | Full Thickness vs. Rectal Suction Biopsy in the Diagnosis of Hirschsprungs Disease | January 1, 2022 | February 1, 2024 |
| NCT02776176 | Unknown status | N/A | Enhanced Recovery After Surgery In Hirschsprung Disease | January 2016 | December 2019 |
- OMIM Phenotype Series Number (OMIM)
- PS142623
- OrphaNumber from OrphaNet (Orphanet)
- 388
- ICD10 preferred id (Insert disease from ICD10)
- D0013823
- ICD10 class code (Insert disease from ICD10)
- Q43.1
- MeSH unique ID (MeSH (Medical Subject Headings))
- D006627