NCT02955264

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
8

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Jul 2014

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

July 1, 2014

Completed
2.2 years until next milestone

First Submitted

Initial submission to the registry

September 14, 2016

Completed
2 months until next milestone

First Posted

Study publicly available on registry

November 4, 2016

Completed
12 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 1, 2017

Completed
2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2018

Completed
Last Updated

January 8, 2021

Status Verified

January 1, 2021

Enrollment Period

3.3 years

First QC Date

September 14, 2016

Last Update Submit

January 5, 2021

Conditions

Congenital Disorders of Glycosylation

Keywords

GlycosylationGlucose Metabolic DisorderGalactose

Outcome Measures

Primary Outcomes (1)

  • Metabolic Function

    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.

    18 weeks

Secondary Outcomes (1)

  • Biomarkers for protein glycosylation

    18 weeks

Study Arms (1)

D-Galactose

EXPERIMENTAL

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).

Dietary Supplement: D-Galactose

Interventions

D-GalactoseDIETARY_SUPPLEMENT

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

D-Galactose

Eligibility Criteria

AgeUp to 21 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • Biochemically and genetically proven Congenital Disorders of Glycosylation.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Tulane University

New Orleans, Louisiana, 70112, United States

Location

Related Publications (1)

  • 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.

    PMID: 33743737DERIVED

MeSH Terms

Conditions

Congenital Disorders of GlycosylationGlucose Metabolism Disorders

Interventions

Galactose

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

HexosesMonosaccharidesSugarsCarbohydrates

Study Officials

  • Eva Morava-Kozicz, MD, PhD

    Mayo Clinic

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Model Details: Dietary Supplement: D-Galactose
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 14, 2016

First Posted

November 4, 2016

Study Start

July 1, 2014

Primary Completion

November 1, 2017

Study Completion

January 1, 2018

Last Updated

January 8, 2021

Record last verified: 2021-01

Locations

US(1)