Alagille syndrome
Information
- Disease name
- Alagille syndrome
- Disease ID
- DOID:9245
- Description
- "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts." [url:https\://research.nhgri.nih.gov/atlas/condition/alagille-syndrome, url:https\://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| JAG1 | 20 | 10,637,684 | 10,673,999 | 154 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05035030 | Active, not recruiting | Phase 3 | Long-term Safety and Efficacy of Odevixibat in Patients With Alagille Syndrome | September 3, 2021 | March 31, 2025 |
| NCT04729751 | Active, not recruiting | Phase 2 | A Study to Evaluate the Safety and Tolerability of Maralixibat in Infant Participants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis (PFIC) and Alagille Syndrome (ALGS). | September 9, 2021 | December 2024 |
| NCT02922751 | Active, not recruiting | FibroScan™ in Pediatric Cholestatic Liver Disease (FORCE) | November 16, 2016 | December 2024 | |
| NCT04530994 | Approved for marketing | A Maralixibat Expanded Access Program for Patients With Cholestatic Pruritus Associated With Alagille Syndrome (ALGS) | |||
| NCT02047318 | Completed | Phase 2 | An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Subjects With Alagille Syndrome (ALGS) | December 20, 2013 | June 17, 2020 |
| NCT02057692 | Completed | Phase 2 | Evaluation of LUM001 in the Reduction of Pruritus in Alagille Syndrome | November 24, 2014 | November 16, 2016 |
| NCT02117713 | Completed | Phase 2 | An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Pediatric Subjects With Alagille Syndrome | March 16, 2015 | June 1, 2020 |
| NCT02131623 | Completed | Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease | July 2014 | March 2015 | |
| NCT02160782 | Completed | Phase 2 | Safety and Efficacy Study of LUM001 (Maralixibat) With a Drug Withdrawal Period in Participants With Alagille Syndrome (ALGS) | October 28, 2014 | May 28, 2020 |
| NCT02963077 | Completed | Phase 1 | A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 | July 2013 | May 2014 |
| NCT03082937 | Completed | Phase 1 | An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects | January 31, 2017 | March 8, 2017 |
| NCT04674761 | Completed | Phase 3 | Efficacy and Safety of Odevixibat in Patients With Alagille Syndrome | March 19, 2021 | September 9, 2022 |
| NCT00001642 | Completed | Positional Cloning of the Gene(s) Responsible for Alagille Syndrome | May 1997 | March 2000 | |
| NCT00007033 | Completed | N/A | Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease | October 2000 | |
| NCT01515631 | Completed | Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Review | April 2007 | February 2018 | |
| NCT01903460 | Completed | Phase 2 | Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille Syndrome | August 2013 | March 2015 |
| NCT05846854 | Enrolling by invitation | N/A | Decreasing Hemorrhage Risk in Children With Alagille Syndrome | April 18, 2023 | November 2024 |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT05488067 | Recruiting | Phase 4 | Atorvastatin Therapy on Xanthoma in Alagille Syndrome | March 22, 2022 | March 22, 2025 |
| NCT06193928 | Recruiting | Long-Term Safety and Clinical Outcomes of Livmarli in Patients With Alagille Syndrome (LEAP) | September 21, 2023 | September 20, 2028 | |
| NCT00571272 | Suspended | Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC) | November 30, 2007 | May 2029 |
- Disase is a (Disease Ontology)
- DOID:409
- Cross Reference ID (Disease Ontology)
- GARD:804
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q44.7
- Cross Reference ID (Disease Ontology)
- MESH:D016738
- Cross Reference ID (Disease Ontology)
- MIM:118450
- Cross Reference ID (Disease Ontology)
- MIM:610205
- Cross Reference ID (Disease Ontology)
- NCI:C35139
- Cross Reference ID (Disease Ontology)
- ORDO:52
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:31742004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0085280
- Exact Synonym (Disease Ontology)
- Alagille-Watson syndrome
- Exact Synonym (Disease Ontology)
- Arteriohepatic dysplasia
- OMIM Phenotype Series Number (OMIM)
- PS118450
- OrphaNumber from OrphaNet (Orphanet)
- 52
- MeSH unique ID (MeSH (Medical Subject Headings))
- D016738