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Can a national registry unlock the genetic secrets of glycogen storage diseases in indian children?

NCT ID NCT06396546

Knowledge-focused Sponsor: Institute of Liver and Biliary Sciences, India Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Aug 05, 2026 · Last updated Aug 06, 2026 · Updated 1 time

Summary

This study aims to create a nationwide registry of Indian children with hepatic glycogen storage diseases (GSDs), a group of inherited metabolic disorders affecting the liver and muscles. By collecting genetic, clinical, and outcome data from 250 children, researchers hope to map the spectrum of genetic mutations, natural disease course, and how different genotypes relate to symptoms. The findings could improve individual treatment decisions, including the choice between medical management and liver transplantation, and inform national health policy.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
This registry could reveal the most common genetic mutations behind glycogen storage diseases in Indian children, guiding better diagnosis, treatment choices, and health policy.
What could go wrong
As an observational registry, it won't test a treatment. Results depend on data quality and may not cover all rare GSD types.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 250 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2024

Expected to finish

Mar 2029

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

Up to 18 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

disorder of glycogen metabolism glycogen storage disease due to glycogen branching enzyme deficiency glycogen storage disease due to lactate dehydrogenase M-subunit deficiency glycogen storage disease I glycogen storage disease III glycogen storage disease IX glycogen storage disease VI glycogen storage disorder due to hepatic glycogen synthase deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Glycogen storage diseases

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    37 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • All India Institute of Medical Sceinces

    RECRUITING

    Bhubaneswar, Odisha, 751019, India

  • All India Institute of Medical Sciences

    RECRUITING

    Nagpur, Maharashtra, 441108, India

  • All India Institute of Medical Sciences

    RECRUITING

    Jhārkhand, 814152, India

  • All India Institute of Medical Sciences

    RECRUITING

    Patna, 801507, India

  • Ankura Hospital for Women and Children

    RECRUITING

    Hyderabad, 500018, India

  • Ankura Hospital for women and children

    RECRUITING

    Vijayawada, 520010, India

  • Apollo Children's Hospital

    RECRUITING

    Chennai, 600006, India

  • Apollo Hospital

    RECRUITING

    New Delhi, 110076, India

  • Artemis hospital

    RECRUITING

    Gurgaon, Uttar Pradesh, 122001, India

  • Aster CMI Hospital

    RECRUITING

    Bengaluru, Karnataka, 560092, India

  • Child Gastro and Liver Care Centre

    RECRUITING

    Patna, 800020, India

  • Dr RML institute of Medical Sciences

    RECRUITING

    Lucknow, U.P., 226010, India

  • Gleneagles Health City

    RECRUITING

    Chennai, 600119, India

  • Gleneagles hospital

    RECRUITING

    Mumbai, Maharashtra, 400012, India

  • Government Medical College

    RECRUITING

    Thiruvananthapuram, Kerala, 695011, India

  • Government medical college and its associated children hospital

    RECRUITING

    Srinagar, Jammu and Kashmir, 190018, India

  • Gujarat Superspeciality Clinic

    RECRUITING

    Ahmedabad, Gujarat, 380009, India

  • Institute of Child Health & Hospital for Children

    RECRUITING

    Chennai, Tamil Nadu, India

  • Institute of Liver & Biliary Sciences

    RECRUITING

    New Delhi, National Capital Territory of Delhi, 110070, India

  • Institute of Medical Sciences and SUM Hospital

    RECRUITING

    Bhubaneswar, Odisha, 751003, India

  • J. Hospital and Research Centre

    RECRUITING

    Mangalore, Karnataka, 575004, India

  • Jai Prabha Medanta Hospital

    RECRUITING

    Patna, 800020, India

  • Jaslok Hospital and research Center

    RECRUITING

    Mumbai, 400026, India

  • Jupiter Hospital

    RECRUITING

    Thane, Maharashtra, India

  • Jupiter Hospital, Prathamesh Park

    RECRUITING

    Pune, Maharashtra, 411045, India

  • KEM Hospital

    RECRUITING

    Pune, Maharashtra, 411011, India

  • Kanchi Kamakoti CHILDS Trust Hospital

    RECRUITING

    Chennai, Tamil Nadu, 600034, India

  • King George Medical University

    RECRUITING

    Lucknow, 226003, India

  • Lakeshore hospital and Research centre

    RECRUITING

    Kochi, Kerala, 682040, India

  • Lokmanya Tilak Municipal Medical College and General Hospital

    RECRUITING

    Mumbai, 400022, India

  • Max Hospital, Saket

    RECRUITING

    New Delhi, 110017, India

  • Mazumdar Shaw Medical Center

    RECRUITING

    Bengaluru, Karnataka, 560099, India

  • Prism Pediatricgastro

    RECRUITING

    Ahmedabad, 380008, India

  • Rainbow children's hospital

    RECRUITING

    Guindy, Chennai, 600015, India

  • Regency Health Hospital

    RECRUITING

    Kanpur, 208005, India

  • Sir H N Reliance Foundation Hospital

    RECRUITING

    Girgaon, Mumbai, 400004, India

  • Srijan Children Gastro & Liver Clinic

    RECRUITING

    Surat, Gujarat, 395001, India