Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation

NCT ID: NCT02955264

Last Updated: 2021-01-08

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 8 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2014-07-31
• Study Completion Date: 2018-01-31

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.

Conditions

Congenital Disorders of Glycosylation

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

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).

Group Type: EXPERIMENTAL

D-Galactose

Intervention Type: DIETARY_SUPPLEMENT

D-Galactose is an oral powdered dietary supplement to be taken by mouth.

Interventions

D-Galactose

D-Galactose is an oral powdered dietary supplement to be taken by mouth.

Intervention Type: DIETARY_SUPPLEMENT

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.

• Maximum Eligible Age: 21 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Tulane University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Eva Morava-Kozicz, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

Tulane University

New Orleans, Louisiana, United States

Countries

United States

References

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.

Reference Type: DERIVED

PMID: 33743737 (View on PubMed)

Other Identifiers

14-517339

Identifier Type: -

Identifier Source: org_study_id