Establishing a registry for Glycogen Storage Diseases in Indian children

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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.

Where it's running

• Rainbow children's hospital
  Guindy, Chennai, India Recruiting
• Gujarat Superspeciality Clinic
  Ahmedabad, Gujarat, India Recruiting
• Srijan Children Gastro & Liver Clinic
  Surat, Gujarat, India Recruiting
• Government medical college and its associated children hospital
  Srinagar, Jammu and Kashmir, India Recruiting
• Aster CMI Hospital
  Bengaluru, Karnataka, India Recruiting
• Mazumdar Shaw Medical Center
  Bengaluru, Karnataka, India Recruiting

Study contacts

• Study coordinator: Dr Vikrant Sood, DM
• Email: drvickyster@gmail.com
• Phone: 01146300000

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.