Clinical trial NCT02955264: Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
Official title: Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Congenital Disorders of Glycosylation
Keywords: Glycosylation
Glucose Metabolic Disorder
Galactose
Lead sponsor: Tulane University
Sponsor class: OTHER
First posted: 2016-11-04
Enrollment: 8
Sex: ALL
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: Dietary Supplement: D-Galactose
Primary purpose: TREATMENT

Brief summary: 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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Metabolic Function
timeFrame: 18 weeks
Secondary outcomes:
measure: Biomarkers for protein glycosylation
timeFrame: 18 weeks
Other outcomes:
Locations:
city: New Orleans
country: United States
facility: Tulane University
state: Louisiana
Study officials:
affiliation: Mayo Clinic
name: Eva Morava-Kozicz, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Witters P, Andersson H, Jaeken J, Tseng L, van Karnebeek CDM, Lefeber DJ, Cassiman D, Morava E. D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial. Orphanet J Rare Dis. 2021 Mar 20;16(1):138. doi: 10.1186/s13023-020-01609-z.