Alagille Syndrome Clinical Trial
Official title:
Positional Cloning of the Gene(s) Responsible for Alagille Syndrome
The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach. The first step towards this goal is to define the smallest genomic candidate region for AGS at 20p12 and to begin to identify genes within this region which are, by definition, candidate genes for the disease. In a collaborative effort with clinician-investigators studying the Alagille syndrome, metaphase chromosomes and genomic DNA from affected individuals will be studied for subchromosomal deletions and for mutations in the candidate genes. Characterization of genes involved in Alagille syndrome could provide important insight into the pathophysiology of the disease, the development of normal liver and treatment of this disease. Recently, we and others found that mutations in Jagged1, a Notch1 receptor are responsible for Alagille Syndrome.
Status | Completed |
Enrollment | 225 |
Est. completion date | March 2000 |
Est. primary completion date | |
Accepts healthy volunteers | No |
Gender | Both |
Age group | N/A and older |
Eligibility | All enrolled affected subjects, whose samples will be analyzed in this study, must meet the criteria for the clinical diagnosis of Alagille Syndrome (Syndromic Bile Duct Paucity) which include liver biopsy findings consistent with Alagille Syndrome and at least 3 of the 5 primary clinical criteria: cholestasis, characteristic face, posterior embryotoxon, "butterfly" vertebrae and cardiac findings. |
N/A
Country | Name | City | State |
---|---|---|---|
United States | National Human Genome Research Institute (NHGRI) | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Human Genome Research Institute (NHGRI) |
United States,
Alagille D, Estrada A, Hadchouel M, Gautier M, Odièvre M, Dommergues JP. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr. 1987 Feb;110(2):195-200. — View Citation
Alagille D, Odièvre M, Gautier M, Dommergues JP. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr. 1975 Jan;86(1):63-71. — View Citation
Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet. 1997 Jul;16(3):235-42. — View Citation
Status | Clinical Trial | Phase | |
---|---|---|---|
Active, not recruiting |
NCT04729751 -
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).
|
Phase 2 | |
Active, not recruiting |
NCT05035030 -
Long-term Safety and Efficacy of Odevixibat in Patients With Alagille Syndrome
|
Phase 3 | |
Recruiting |
NCT06193928 -
Long-Term Safety and Clinical Outcomes of Livmarli in Patients With Alagille Syndrome (LEAP)
|
||
Completed |
NCT02160782 -
Safety and Efficacy Study of LUM001 (Maralixibat) With a Drug Withdrawal Period in Participants With Alagille Syndrome (ALGS)
|
Phase 2 | |
Completed |
NCT00007033 -
Study of Magnesium Sulfate in Children With Reduced Bone Density Secondary to Chronic Cholestatic Liver Disease
|
N/A | |
Suspended |
NCT00571272 -
Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)
|
||
Completed |
NCT02057692 -
Evaluation of LUM001 in the Reduction of Pruritus in Alagille Syndrome
|
Phase 2 | |
Active, not recruiting |
NCT02922751 -
FibroScan™ in Pediatric Cholestatic Liver Disease (FORCE)
|
||
Recruiting |
NCT05488067 -
Atorvastatin Therapy on Xanthoma in Alagille Syndrome
|
Phase 4 | |
Completed |
NCT04674761 -
Efficacy and Safety of Odevixibat in Patients With Alagille Syndrome
|
Phase 3 | |
Completed |
NCT02117713 -
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
|
Phase 2 | |
Completed |
NCT02131623 -
Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease
|
||
Completed |
NCT02963077 -
A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384
|
Phase 1 | |
Recruiting |
NCT01793168 -
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
|
||
Completed |
NCT03082937 -
An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects
|
Phase 1 | |
Completed |
NCT02047318 -
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)
|
Phase 2 | |
Completed |
NCT01903460 -
Safety and Efficacy Study of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Alagille Syndrome
|
Phase 2 | |
Completed |
NCT01515631 -
Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Review
|
||
Enrolling by invitation |
NCT05846854 -
Decreasing Hemorrhage Risk in Children With Alagille Syndrome
|
N/A | |
Approved for marketing |
NCT04530994 -
A Maralixibat Expanded Access Program for Patients With Cholestatic Pruritus Associated With Alagille Syndrome (ALGS)
|