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'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry'

NCT06396546 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 250

Last updated 2026-08-05

No results posted yet for this study

Summary

Glycogen storage disorders (GSD) are a class of inborn metabolic abnormalities characterized by enzymatic defects in glycogen production or breakdown and are one of commonest metabolic disorders of the childhood. Their pathogenesis mostly involves the liver and muscles and can range in severity from minor disorders with a typical lifespan to those that are fatal in infancy. Different GSDs, such as type 0a, I, III (most common type), IV, VI, IX, and XI (based on specific gene variants) are now referred to as hepatic GSDs involving liver (+ muscle). GSDs show clinically in a wide range of ways, and they have typically been identified by combining clinical symptoms, biochemical data, and pathological findings. But due to lack of multicentre evaluation, there is persistent scarcity of data with regard to the overall spectrum of genetic defects in Indian children presenting with GSD, their natural course and genotype-phenotype correlation. Also, there is limited data on common genetic variations in Indian population causing hepatic glycogen storage diseases.

An Indian GSD registry is needed to describe the spectrum, natural course, genotype-phenotype correlation, outcome and response to medical therapy in Indian children with GSDs. The study would be the first to extensively describe the genotype of Indian children with GSD and their natural course. Being a multicentric study, the results generated would therefore be applicable to the whole of the country. Understanding the prevalent genotypes in Indian population and their related phenotype would help both the individual management decisions of these patients and further policy making for their diagnosis and treatment. Results from this study could thus guide appropriate decision making based on outcome and help choose the modality of treatment for the individual patient - medical, or liver transplantation.

Conditions

  • Glycogen Storage Diseases

Sponsors & Collaborators

  • Institute of Liver and Biliary Sciences, India

    lead OTHER

Principal Investigators

  • Dr Vikrant Sood, DM · Institute of Liver & Biliary Sciences

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-05-02
Primary Completion
2029-03-31
Completion
2029-03-31

Countries

  • India

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06396546 on ClinicalTrials.gov