ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 1 of 14 for:    Glycosylation
Previous Study | Return to List | Next Study

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02955264
Recruitment Status : Recruiting
First Posted : November 4, 2016
Last Update Posted : December 2, 2017
Sponsor:
Information provided by (Responsible Party):
Tulane University

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.

Condition or disease Intervention/treatment Phase
Congenital Disorders of Glycosylation Dietary Supplement: D-Galactose Phase 2

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 : Interventional  (Clinical Trial)
Estimated Enrollment : 10 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
Study Start Date : July 2014
Estimated Primary Completion Date : May 2018
Estimated Study Completion Date : December 2018


Arm Intervention/treatment
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).
Dietary Supplement: D-Galactose



Primary Outcome Measures :
  1. Metabolic Function [ Time Frame: 18 weeks ]
    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.


Secondary Outcome Measures :
  1. 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.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   up to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02955264


Contacts
Contact: Eva Morava-Kozicz, MD, PhD 504-988-5101

Locations
United States, Louisiana
Tulane University Recruiting
New Orleans, Louisiana, United States, 70112
Contact: Eva Morava-Kozicz, MD, PhD         
Principal Investigator: Eva Morava-Kozicz, MD, PhD         
Sponsors and Collaborators
Tulane University

Responsible Party: Tulane University
ClinicalTrials.gov Identifier: NCT02955264     History of Changes
Other Study ID Numbers: 14-517339
First Posted: November 4, 2016    Key Record Dates
Last Update Posted: December 2, 2017
Last Verified: November 2017

Keywords provided by Tulane University:
Glycosylation
Glucose Metabolic Disorder
Galactose

Additional relevant MeSH terms:
Disease
Congenital Disorders of Glycosylation
Pathologic Processes
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases