'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry'
Launched by INSTITUTE OF LIVER AND BILIARY SCIENCES, INDIA · May 1, 2024
Trial Information
Current as of May 24, 2025
Recruiting
Keywords
ClinConnect Summary
The clinical trial titled "Glycogen Storage Diseases (GSDs) in Indian Children - Establishing an Indian GSD (I-GSD) Registry" is focused on studying glycogen storage diseases, a group of inherited conditions that affect how the body processes glycogen, a type of sugar stored in the liver and muscles. These disorders can vary from mild to severe and often show different symptoms. The goal of this trial is to create a registry that collects information about these diseases in Indian children, which will help us better understand how they progress, the genetic factors involved, and how different treatments work. This is important because currently, there is limited information about these conditions in the Indian population.
To participate in this study, children under 18 years old who have a confirmed genetic diagnosis of specific types of glycogen storage diseases can enroll. Participants will have their health monitored and their genetic information recorded to help researchers learn more about these diseases. This information will not only assist in individual treatment decisions but also help shape future healthcare policies for diagnosing and treating glycogen storage diseases in India. If you think your child may qualify for this study, it's a great opportunity to contribute to a better understanding of these conditions.
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- • Children \<18 years of age (at presentation) with genetically proven (homozygous or compound heterozygous mutations) hepatic glycogen storage diseases
- • 1. 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 gene variants and XI/ GLUT2/SLC2A2 gene variants.
- Exclusion Criteria:
- • -
- • Clinical, biochemical and histological evidence of GSDs without a confirmatory genetic sequencing report.
About Institute Of Liver And Biliary Sciences, India
The Institute of Liver and Biliary Sciences (ILBS) in India is a premier research and healthcare institution dedicated to the advancement of knowledge and treatment in liver, biliary, and related diseases. As a clinical trial sponsor, ILBS is committed to conducting innovative and ethically-driven research to improve patient outcomes and enhance therapeutic options in hepatology. The institute fosters collaboration among multidisciplinary teams of clinicians, researchers, and healthcare professionals, ensuring rigorous scientific methodologies and adherence to regulatory standards. Through its focus on translational research, ILBS aims to bridge the gap between laboratory discoveries and clinical applications, ultimately contributing to the global understanding and management of liver diseases.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Pune, Maharashtra, India
New Delhi, Delhi, India
Thiruvananthapuram, Kerala, India
Patients applied
Trial Officials
Dr Vikrant Sood, DM
Study Director
Institute of Liver & Biliary Sciences
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported