Establishing a registry for Glycogen Storage Diseases in Indian children
'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry'.
This study is trying to create a detailed registry of children in India with Glycogen Storage Diseases to better understand their symptoms and health outcomes.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 250 (estimated) |
| Ages | N/A to 18 Years |
| Sex | All |
| Sponsor | Institute of Liver and Biliary Sciences, India Academic / other |
| Locations | 3 sites (Thiruvananthapuram, Kerala and 2 other locations) |
| Trial ID | NCT06396546 on ClinicalTrials.gov |
What this trial studies
This observational study aims to create a comprehensive registry for pediatric patients in India diagnosed with Glycogen Storage Diseases (GSDs). It will involve a multicentric approach, collecting both retrospective and prospective data from various medical centers across the country. The primary objective is to describe the clinical presentation and outcomes of genetically confirmed cases of hepatic GSDs, focusing on genotype-phenotype correlations. The study will continuously expand participation from new centers, allowing for ongoing data collection and analysis.
Who should consider this trial
Good fit: Ideal candidates for this study are children under 18 years of age with genetically confirmed hepatic glycogen storage diseases.
Not a fit: Patients who have clinical, biochemical, and histological evidence of GSDs but lack a confirmatory genetic sequencing report may not benefit from this study.
Why it matters
Potential benefit: If successful, this registry could enhance understanding of GSDs in Indian children, leading to improved diagnosis and management strategies.
How similar studies have performed: While there is limited data on GSDs in the Indian population, similar registries in other countries have successfully improved understanding and management of these conditions.
Eligibility criteria
Show full inclusion / exclusion 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:
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* Clinical, biochemical and histological evidence of GSDs without a confirmatory genetic sequencing report.
Where this trial is running
Thiruvananthapuram, Kerala and 2 other locations
- Government Medical College — Thiruvananthapuram, Kerala, India (Recruiting)
- KEM Hospital — Pune, Maharashtra, India (Recruiting)
- Institute of Liver & Biliary Sciences — New Delhi, National Capital Territory of Delhi, India (Recruiting)
Study contacts
- Study coordinator: Dr Vikrant Sood, DM
- Email: drvickyster@gmail.com
- Phone: 01146300000
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.