CDG Congential Disorder of Glycosylation
Conditions
Interventions
1The participant will remain on his/her regular diet and will be asked to
ingest an oral galactose (simple milk sugar) supplement. The amount of
galactose in the supplement will be not more than wha
Sponsors
UZ Leuven
Eligibility
Age
2 Years to 11 Years
Inclusion criteria
Inclusion criteria: Patient is younger than 21 years old Patient has a biochemically and genetically proven Congenital Disorders of Glycosylation. No galactose intake last 6 weeks
Exclusion criteria
Exclusion criteria: Patient has any of the following conditions: Aldolase B deficiency Galactosemia Hemolytic uremic syndrome Severe anemia Diagnosis of intellectual disability or developmental delay Galactose Intolerance
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Efficacy: Change of glycosylation in blood (sialotransferrin isoforms) | — |
Secondary
| Measure | Time frame |
|---|---|
| Compliance intake of galactose | — |
Countries
Netherlands
Outcome results
None listed