Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | Any - 21 |
| Updated: | 8/11/2018 |
| Start Date: | July 2014 |
| End Date: | July 2019 |
| Contact: | Eva Morava-Kozicz, MD, PhD |
| Phone: | 504-988-5101 |
The goal of this study is to better characterize the metabolic alterations and sugar
structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital
Disorders of Glycosylation. The investigators aim to assess the safety and tolerability of
oral galactose treatment in a small pilot group of Congenital Disorders of Glycosylation
patients. The investigators will also determine the relationship between simple milk sugar
intake (galactose dose) in the diet and the blood and urine markers of protein glycosylation
abnormalities.
structure alterations (glycosylation abnormalities) in patients diagnosed with Congenital
Disorders of Glycosylation. The investigators aim to assess the safety and tolerability of
oral galactose treatment in a small pilot group of Congenital Disorders of Glycosylation
patients. The investigators will also determine the relationship between simple milk sugar
intake (galactose dose) in the diet and the blood and urine markers of protein glycosylation
abnormalities.
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.
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.
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.
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