Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
The primary hypothesis in this study is that adding simple milk sugar (galactose) to the diet of Congenital Disorders of Glycosylation patients will normalize the metabolic abnormalities. The secondary hypothesis posits that galactose intervention in Congenital Disorders of Glycosylation patients will normalize specific physiological biomarkers of protein glycosylation that can be utilized for future phase II/III trial development. The knowledge gained from the investigation of these two aims will help the investigators learn more about the disrupted metabolic mechanism of this disease and should lead to the identification of new disease biomarkers that can be used to evaluate clinical efficacy in future therapeutic trials.
Over a two-year period, the investigators will enroll patients diagnosed with Congenital Disorders of Glycosylation. The investigators propose to administer oral galactose supplementation for a period of 18 weeks in increasing dose to assess its effectiveness at normalizing glycosylation. Galactose will be given in a series of doses within the range of normal dietary intake of galactose over fixed time points. To assess the effects of oral galactose supplementation for each participant, changes in participant growth, as well as blood sugar levels, coagulation parameters and liver function (the primary clinical features of Congenital Disorders of Glycosylation) 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.
Study Type
Enrollment (Actual)
Phase
- Not Applicable
Contacts and Locations
Study Locations
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Louisiana
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New Orleans, Louisiana, United States, 70112
- Tulane University
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
Inclusion Criteria:
- Biochemically and genetically proven Congenital Disorders of Glycosylation.
Exclusion Criteria:
- Any of the following conditions:
- Aldolase B Deficiency
- Galactosemia (unable to process galactose)
- Hemolytic uremic syndrome
- Severe anemia
- Diagnosis of intellectual disability or developmental delay
- Galactose Intolerance
- Has previously experienced any of the following severe side effects from oral galactose:
- Diarrhea
- Vomiting
- Constipation
- Galactosuria (Galactose in the urine)
- Increased liver glycogen storage.
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
|---|---|
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Experimental: D-Galactose
D-Galactose is an oral powdered supplement to be taken by mouth.
For the first 6 weeks galactose will be given at the dose 0.5g per kg, then from weeks 7-12 at 1.0g per kg, lastly from weeks 13 to 18 at 1.5g per kg (with a maximum daily dose of 50g).
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D-Galactose is an oral powdered dietary supplement to be taken by mouth.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Metabolic Function
Time Frame: 18 weeks
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Assess if the introduction of galactose into the subject's diet will normalization metabolic function.
Metabolic function will be based on liver function and used for muscle enzyme tests, thyroid and growth hormone measurement, coagulation and anti-coagulation factors, blood sugar and milk-acid and biochemical/metabolic parameters.
These measurements will be assessed together to see how many subjects will remain with abnormal values or change to within normal levels.
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18 weeks
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
|---|---|---|
|
Biomarkers for protein glycosylation
Time Frame: 18 weeks
|
Identify potential biomarkers for glycosylation and metabolic dysfunction.
And learn the physiological effect of adding galactose to the diet on known biomarkers for protein glycosylation.
Specific biomarkers that will be examined include: transferrin glyco isoforms, antithrombin III, coagulation factor IX and XI, IGFBP3 and TSH.
These measurements will be assessed together to see how many subjects will remain with abnormal values or change to within normal levels.
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18 weeks
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Collaborators and Investigators
Sponsor
Publications and helpful links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 14-517339
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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