Actively Recruiting
Glycogen Storage Diseases in Indian Children Establishing an Indian GSD Registry
Led by Institute of Liver and Biliary Sciences, India · Updated on 2024-06-24
250
Participants Needed
3
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying glycogen storage disorders (GSDs), a group of inherited metabolic conditions affecting glycogen production or breakdown, primarily involving the liver and muscles in children. This observational study aims to establish a comprehensive Indian GSD registry to describe the spectrum of genetic defects, natural course, genotype-phenotype correlations, outcomes, and responses to medical therapy in Indian children with hepatic GSDs. The study's results will provide important data to guide individual patient management and policy decisions for diagnosis and treatment across India. The study is a multicentric retrospective and prospective registry enrolling genetically confirmed pediatric hepatic GSD cases from various centers. Retrospective data, including past clinical information and genetic details, will be collected and analyzed between May 2024 and April 2025, with ongoing follow-up data gathered every 6 to 12 months. New centers can join and contribute data at any time, and prospective data collection will continue for newly diagnosed patients. Participants will be monitored over time through clinical data collection, genetic analysis, and long-term follow-up, including outcomes after liver transplantation if applicable. Researchers will evaluate clinical presentations and long-term survival with native liver or post-transplant, and assess genetic variations and their relationship to clinical features. The study duration extends up to five years, with continuous data collection to better understand disease progression and treatment outcomes.
CONDITIONS
Brief Title
'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry'
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Children under 18 years of age at presentation
- Genetically confirmed hepatic glycogen storage disease with homozygous or compound heterozygous mutations
- Confirmed gene variants include types 0a (GYS2), I (G6PC or SLC37A4), III (AGL), IV (GBE1), VI (PYGL), IX (PHKA2, PHKB, PHKG2), and XI (GLUT2/SLC2A2)
You will not qualify if you...
- Clinical, biochemical, and histological evidence of GSD without confirmatory genetic sequencing report
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Varies per participant
Participants undergo genetic confirmation and clinical assessment to define their hepatic glycogen storage disease type.
Duration - Up to 5 years
Participants are followed over time to collect data on clinical outcomes, complications, and survival, including post liver transplant outcomes.
Data collection visits every 6 months to 1 year
Trial Site Locations
Total: 3 locations
1
Government Medical College
Thiruvananthapuram, Kerala, India, 695011
Actively Recruiting
2
KEM Hospital
Pune, Maharashtra, India, 411011
Actively Recruiting
3
Institute of Liver & Biliary Sciences
New Delhi, National Capital Territory of Delhi, India, 110070
Actively Recruiting
Research Team
D
Dr Vikrant Sood, DM
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Frequently Asked Questions
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