Glycogen Storage DiseasesI-GSDNCT06396546
'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry'
An observational study of Glycogen Storage Diseases, run by Institute of Liver and Biliary Sciences, India at 37 sites in India.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Glycogen Storage Diseases
- How many people
- 250 participants
- Where
- 37 sitesIndia
- Study dates
- 2 May 2024to 31 Mar 2029
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Genetically confirmed cases of hepatic GSDs will be enrolled from all the participating centres.
Who may be able to join
- Children <18 years of age (at presentation) with genetically proven (homozygous or compound heterozygous mutations) hepatic glycogen storage diseases
- 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.
Who cannot join
- -
- Clinical, biochemical and histological evidence of GSDs without a confirmatory genetic sequencing report.
Trial locations and contacts
37 sites in 1 country. Contact the study team or a site near you to ask about taking part.
37 sites in 1 country
India37 sites, 37 recruiting
- Recruiting
Gujarat Superspeciality Clinic
Ahmedabad, Gujarat, 380009
Dr Vaibhav Sameer Shah, drvsshah88@gmail.com
- Recruiting
Prism Pediatricgastro
Ahmedabad, 380008
Dr Aashay Abhay Shah, aashayashah@yahoo.com
- Recruiting
Aster CMI Hospital
Bengaluru, Karnataka, 560092
Dr Ashritha A, ashrithaavalareddy@gmail.com
- Recruiting
Mazumdar Shaw Medical Center
Bengaluru, Karnataka, 560099
Dr. Sahana Shankar, drsahanashankar@gmail.com
- Recruiting
Institute of Medical Sciences and SUM Hospital
Bhubaneswar, Odisha, 751003
Dr Kalpana Panda, drkalpanapanda@gmail.com
- Recruiting
All India Institute of Medical Sceinces
Bhubaneswar, Odisha, 751019
Dr Aditi Kumar, ped_aditi@aiimsbhubaneswar.edu.in
- Recruiting
Kanchi Kamakoti CHILDS Trust Hospital
Chennai, Tamil Nadu, 600034
Dr Srinivas Sankaranarayanan, dr.srinis@gmail.com
- Recruiting
Institute of Child Health & Hospital for Children
Chennai, Tamil Nadu
Dr. D. Nirmala, nirmalanatarajan89@gmail.com
- Recruiting
Apollo Children's Hospital
Chennai, 600006
Dr Viswanathan M Sivaramakrishnan, vichums@rediffmail.com
- Recruiting
Gleneagles Health City
Chennai, 600119
Dr Somashekara HR, somu_cmch@yahoo.com
- Recruiting
Sir H N Reliance Foundation Hospital
Girgaon, Mumbai, 400004
Dr Priyanka Udawat, Address-drpriyanka.udawat@gmail.com
- Recruiting
Rainbow children's hospital
Guindy, Chennai, 600015
Dr.Malathi Sathiyasekaran, mal.bwcs@gmail.com
- Recruiting
Artemis hospital
Gūrgaon, Uttar Pradesh, 122001
Dr Sakshi Karkra, sakshikarkra@hotmail.com
- Recruiting
Ankura Hospital for Women and Children
Hyderabad, 500018
Dr Parijat Ram Tripathi, parijattripathi1986@gmail.com
- Recruiting
All India Institute of Medical Sciences
Jhārkhand, 814152
Dr. Saroj Kumar Tripathy, doc.saroj@gmail.com
- Recruiting
Regency Health Hospital
Kanpur, 208005
Dr Jaya Agarwal, drjaya.agarwal@gmail.com
- Recruiting
Lakeshore hospital and Research centre
Kochi, Kerala, 682040
Dr Maya Peethambaran, mayapeethambaran@gmail.com
- Recruiting
Dr RML institute of Medical Sciences
Lucknow, U.P., 226010
Dr Piyush Upadhyay, uppiyush@yahoo.com
- Recruiting
King George Medical University
Lucknow, 226003
Dr Sanjeev Kumar Verma, drsanjeev78@gmail.com
- Recruiting
J. Hospital and Research Centre
Mangalore, Karnataka, 575004
Dr Prasad B.S., prasadbsbmc@gmail.com
- Recruiting
Gleneagles hospital
Mumbai, Maharashtra, 400012
Dr Vibhor Borkar, 8828291707
- Recruiting
Lokmanya Tilak Municipal Medical College and General Hospital
Mumbai, 400022
- Dr. Prachi Swapnil Karnik, dr.prachi.sk@gmail.com
- Recruiting
Jaslok Hospital and research Center
Mumbai, 400026
Dr Aabha Nagral, aabhanagral@gmail.com
- Recruiting
All India Institute of Medical Sciences
Nagpur, Maharashtra, 441108
Dr. Himali Meshram, meshramhimali@gmail.com
- Recruiting
Institute of Liver & Biliary Sciences
New Delhi, National Capital Territory of Delhi, 110070
Dr Vikrant Sood, 01146300000, drvickyster@gmail.com
- Recruiting
Max Hospital, Saket
New Delhi, 110017
Dr Vipul Gautam, iam.vipulgautam@gmail.com
- Recruiting
Apollo Hospital
New Delhi, 110076
Dr Anupam Sibal, anupamsibal@apollohospitals.com
- Recruiting
Child Gastro and Liver Care Centre
Patna, 800020
Dr Srikant Pandey, pandeysrikant26@gmail.com
- Recruiting
Jai Prabha Medanta Hospital
Patna, 800020
Dr Arya Suchismita, arya.suchismita@gmail.com
- Recruiting
All India Institute of Medical Sciences
Patna, 801507
Dr Manoj Kumar, manojkumarpedia@gmail.com
- Recruiting
KEM Hospital
Pune, Maharashtra, 411011
Dr Ashish Bavdekar, 02066037342, ashish.bavdekar1@gmail.com
- Recruiting
Jupiter Hospital, Prathamesh Park
Pune, Maharashtra, 411045
Dr Snehavardhan Radheyshyam Pandey, snehavardhan.p@gmail.com
- Recruiting
Government medical college and its associated children hospital
Srinagar, Jammu and Kashmir, 190018
Dr Ishaq Malik, sfsyedfarheen@gmail.com
- Recruiting
Srijan Children Gastro & Liver Clinic
Surat, Gujarat, 395001
Dr Sajan Agarwal, drsajanagarwal@yahoo.com
- Recruiting
Jupiter Hospital
Thane, Maharashtra
Dr Dimple Jain, drdimplejain@gmail.com
- Recruiting
Government Medical College
Thiruvananthapuram, Kerala, 695011
Dr Prasanth K S, drprasanthksobhan@gamil.com
- Recruiting
Ankura Hospital for women and children
Vijayawada, 520010
Dr Devarapalli Venkata Umesh Reddy, umeshreddyd@gmail.com
About this study
Official title: '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.
Read the 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.
- Conditions
- Glycogen Storage Diseases
- Medical subject headings
- Glycogen Storage Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Clinical presentation defined as symptomatology, biochemical and genetic features etc.
Measured: 5 years
Secondary outcomes (3)
Various types of genetic variations (missense, nonsense, frameshift etc) in Indian children with GSD.
Measured: Day 0
Association between specific genetic variations (genotype) and the resulting clinical disease expression (phenotype) in Indian children with various types of hepatic GSDs.
Measured: 5 years
To evaluate the complications and outcome after liver transplantation in Indian children with various types of hepatic GSDs.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 May 2024
- Study start2 May 2024
- Primary completion31 Mar 2029 (estimated)
- Study completion31 Mar 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Glycogen Storage DiseasesStudies of the same condition, open and under way.
- More trials run by Institute of Liver and Biliary Sciences, IndiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 250 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Institute of Liver and Biliary Sciences, India
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Vikrant Sood, Institute of Liver and Biliary Sciences, India
- Investigators
- Dr Vikrant Sood, DM, Study director, Institute of Liver & Biliary Sciences
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06396546
- Sponsor's protocol ID
- ILBS-GSD-01
- Acronym
- I-GSD
- Status last verified
- Apr 2026
- First submitted
- 13 Apr 2024
- Last updated
- 5 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 5 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry'.
- ClinicalTrials.gov ID
- NCT06396546
- Acronym / sponsor ID
- I-GSD / ILBS-GSD-01
- Conditions
- Glycogen Storage Diseases
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 250 participants (estimated)
- Lead sponsor
- Institute of Liver and Biliary Sciences, IndiaUniversity, hospital or other
- Study start
- 2 May 2024 (actual)
- Primary completion
- 31 Mar 2029 (estimated)
- Study completion
- 31 Mar 2029 (estimated)
- First posted
- 2 May 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Target follow-up
- 10 Years
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Genetically confirmed cases of hepatic GSDs will be enrolled from all the participating centres.
Key inclusion criteria (2 listed)
- Children <18 years of age (at presentation) with genetically proven (homozygous or compound heterozygous mutations) hepatic glycogen storage diseases
Key exclusion criteria (2 listed)
- -
- Clinical, biochemical and histological evidence of GSDs without a confirmatory genetic sequencing report.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
3 secondary outcomes
Various types of genetic variations (missense, nonsense, frameshift etc) in Indian children with GSD.
Time frame: 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
To evaluate the complications and outcome after liver transplantation in Indian children with various types of hepatic GSDs.
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Aug 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Dr Vikrant Sood, DM study director
Institute of Liver & Biliary Sciences
37 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Glycogen Storage Diseases, run by Institute of Liver and Biliary Sciences, India at 37 sites in India.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 37 sites in India. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Dr Vikrant Sood, DM (01146300000, drvickyster@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Aug 2026.