Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation

Study Overview
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Brief Summary
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Researchers are trying to assess whether the use of simple sugars given as a daily dietary supplement can improve the health of children with congenital disorders of glycosylation (CDG).

Detailed Description
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The goal of this study is to collect data from patients diagnosed with congenital disorders of glycosylation and taking a simple sugar supplement. The study team wants to expand the evidence on the beneficial effects of this treatment in clinical practice.

Official Title
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Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation

Conditions
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Congenital Disorder of Glycosylation

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patient has a biochemically and genetically proven congenital disorder of glycosylation Patient is receiving (or planning to receive) oral simple sugar supplementation Exclusion Criteria: Aldolase B deficiency Galactosemia Hemolytic uremic syndrome Severe anemia Galactose intolerance
Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Measuring effects of oral monosaccharide supplements through growth measurements | To assess the effects of oral monosaccharide supplementation for each participant, changes in participant growth parameters, as well as blood sugar levels, coagulation parameters, liver function, and other measures of organ system function (as appropriate for the specific type of CDG) will be correlated with biomarkers derived from participant blood and urine samples obtained at key time points and then compared to standard normative ranges of data for each measure. | length of study, up to 2 years | 
| Measuring effects of oral monosaccharide supplements through blood sugar levels | To assess the effects of oral monosaccharide supplementation for each participant, changes in participant growth parameters, as well as blood sugar levels, coagulation parameters, liver function, and other measures of organ system function (as appropriate for the specific type of CDG) will be correlated with biomarkers derived from participant blood and urine samples obtained at key time points and then compared to standard normative ranges of data for each measure. | length of study, up to 2 years | 
| Measuring effects of oral monosaccharide supplements through liver function results | To assess the effects of oral monosaccharide supplementation for each participant, changes in participant growth parameters, as well as blood sugar levels, coagulation parameters, liver function, and other measures of organ system function (as appropriate for the specific type of CDG) will be correlated with biomarkers derived from participant blood and urine samples obtained at key time points and then compared to standard normative ranges of data for each measure. | length of study, up to 2 years | 
| Measuring effects of oral monosaccharide supplements through coagulation results | To assess the effects of oral monosaccharide supplementation for each participant, changes in participant growth parameters, as well as blood sugar levels, coagulation parameters, liver function, and other measures of organ system function (as appropriate for the specific type of CDG) will be correlated with biomarkers derived from participant blood and urine samples obtained at key time points and then compared to standard normative ranges of data for each measure. | length of study, up to 2 years |