Glycogen Storage Disease Type I
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: 1.Children with a genetically or enzymatically confirmed diagnosis of Glycogen Storage Disease Type I who are clinically indicated for standardized dietary management or are already undergoing such treatment. 2.Age at diagnosis >= 12 months and current age < 18 years. 3.Dietary and feeding history from birth to diagnosis is traceable. 4.The parent/legal guardian has provided written informed consent.
Exclusion criteria
Exclusion criteria: 1.The mother had pregnancy complicated by other inherited metabolic disorders or severe organ dysfunction. 2.Significant non-disease-related factors restricting nutritional intake.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Nutritional status and clinical severity of the disease at the time of diagnosis; | — |
Secondary
| Measure | Time frame |
|---|---|
| Short-term Prognosis Change Rate after Standardized Treatment;Dietary Compliance Score; | — |
Countries
China
Contacts
Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine