Last updated: June 21, 2024
Sponsor: Institute of Liver and Biliary Sciences, India
Overall Status: Active - Recruiting
Phase
N/A
Condition
Metabolic Disorders
Liver Disorders
Treatment
N/AClinical Study ID
NCT06396546
ILBS-GSD-01
Ages < 18 All Genders
Study Summary
Eligibility Criteria
Inclusion
Inclusion Criteria:
- Children <18 years of age (at presentation) with genetically proven (homozygous orcompound heterozygous mutations) hepatic glycogen storage diseases
- types 0a/GYS2 gene, I/G6PC or SLC37A4 gene variants, III/ AGL gene variants,IV/ GBE1 gene variants, VI/ PYGL gene variants, IX/ PHKA2, PHKB or PHKG2 genevariants and XI/ GLUT2/SLC2A2 gene variants.
Exclusion
Exclusion Criteria:
- Clinical, biochemical and histological evidence of GSDs without a confirmatorygenetic sequencing report.
Study Design
Total Participants: 250
Study Start date:
May 02, 2024
Estimated Completion Date:
March 31, 2029
Study Description
Connect with a study center
Institute of Liver & Biliary Sciences
New Delhi, Delhi 110070
IndiaActive - Recruiting
Government Medical College
Thiruvananthapuram, Kerala 695011
IndiaActive - Recruiting
KEM Hospital
Pune, Maharashtra 411011
IndiaActive - Recruiting
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