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

June 21, 2024 updated by: Institute of Liver and Biliary Sciences, India

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

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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

  • Primary objective:
  • To describe the clinical presentation and outcome of genetically defined cases of pediatric hepatic glycogen storage diseases (GSD) patients.
  • Study population: Genetically confirmed cases of hepatic GSDs will be enrolled from all the participating centres.
  • Study design: Multicentric retrospective study (with concomitant long term prospective data collection)
  • Study period: The study will be an ongoing effort with aim to continuosly expand the participation. Retrospective data collection (of previous data), analysis and drafting of manuscript would be completed between May 2024 to April 2025. New centers willing to join the consortium will be asked to submit their data as on the date of joining. Retrospective follow up data may be asked from the participating centres every every 6 months-1 year. Also, we would continue prospective data collection of newer GSD patients at the collaborating centres.

Study Type

Observational

Enrollment (Estimated)

250

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • India
    • Delhi
      • New Delhi, Delhi, India, 110070
        • Recruiting
        • Institute of Liver & Biliary Sciences
        • Contact:
    • Kerala
      • Thiruvananthapuram, Kerala, India, 695011
    • Maharashtra
      • Pune, Maharashtra, India, 411011

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Genetically confirmed cases of hepatic GSDs will be enrolled from all the participating centres.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Evaluate clinical presentation and outcome (long term native liver or post liver transplant survival etc) of genetically defined cases of Indian pediatric hepatic glycogen storage diseases (GSD) patients.
Time Frame: 5 years
Clinical presentation defined as symptomatology, biochemical and genetic features etc.
5 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Various types of genetic variations (missense, nonsense, frameshift etc) in Indian children with GSD.
Time Frame: Day 0
Day 0
Association between specific genetic variations (genotype) and the resulting clinical disease expression (phenotype) in Indian children with various types of hepatic GSDs.
Time Frame: 5 years
5 years
To evaluate the complications and outcome after liver transplantation in Indian children with various types of hepatic GSDs.
Time Frame: 5 years
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institute of Liver and Biliary Sciences, India

Investigators

  • Study Director: Dr Vikrant Sood, DM, Institute of Liver & Biliary Sciences

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

May 2, 2024

Primary Completion (Estimated)

March 31, 2029

Study Completion (Estimated)

March 31, 2029

Study Registration Dates

First Submitted

April 13, 2024

First Submitted That Met QC Criteria

May 1, 2024

First Posted (Actual)

May 2, 2024

Study Record Updates

Last Update Posted (Actual)

June 24, 2024

Last Update Submitted That Met QC Criteria

June 21, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ILBS-GSD-01

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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