NCT04198987 - Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation | Crick

Overview

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).

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.

Study Type

OBSERVATIONAL

Enrollment

20

Conditions

Congenital Disorder of Glycosylation

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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

Locations (1)

Mayo Clinic in Rochester

Rochester, Minnesota, United States

Outcomes

Primary Outcomes

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.

Time frame: 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.

Time frame: 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.

Time frame: 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.