Ignite Creation Date:
2024-05-06 @ 8:28 PM
Last Modification Date:
2024-10-26 @ 3:28 PM
Study NCT ID:
NCT06396546
Status:
RECRUITING
Last Update Posted:
2024-06-24
First Post:
2024-04-13
Brief Title:
Glycogen Storage Diseases GSDs in Indian Children- Establishing an Indian GSD I-GSD Registry
Sponsor:
Institute of Liver and Biliary Sciences India
Organization:
Institute of Liver and Biliary Sciences India
Study Overview
Official Title:
Glycogen Storage Diseases GSDs in Indian Children- Establishing an Indian GSD I-GSD Registry
Status:
RECRUITING
Status Verified Date:
2024-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
I-GSD
Brief 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
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None