Status:
RECRUITING
'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry'
Lead Sponsor:
Institute of Liver and Biliary Sciences, India
Conditions:
Glycogen Storage Diseases
Eligibility:
All Genders
Up to 18 years
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 th...
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 con...
Eligibility Criteria
Inclusion Criteria:
-
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.
Exclusion Criteria:
-
-
-
Clinical, biochemical and histological evidence of GSDs without a confirmatory genetic sequencing report.
Key Trial Info
Start Date :
May 2 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
March 31 2029
Estimated Enrollment :
250 Patients enrolled
Trial Details
Trial ID
NCT06396546
Start Date
May 2 2024
End Date
March 31 2029
Last Update
June 24 2024
Active Locations (3)
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1
Government Medical College
Thiruvananthapuram, Kerala, India, 695011
2
KEM Hospital
Pune, Maharashtra, India, 411011
3
Institute of Liver & Biliary Sciences
New Delhi, National Capital Territory of Delhi, India, 110070