Congenital Disorders of GlycosylationNCT02955264
Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
A study testing D-Galactose in people with Congenital Disorders of Glycosylation, run by Tulane University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 21 years
- Conditions the study is for
- Congenital Disorders of Glycosylation
- What is being tested?
- D-Galactose
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 1 siteUnited States
- Study dates
- Jul 2014to Jan 2018
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 21 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Biochemically and genetically proven Congenital Disorders of Glycosylation.
Who cannot join
- 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
Show all 13Show fewer
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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
- Being tested
- D-Galactose
- Keywords
- Glycosylation, Glucose Metabolic Disorder, Galactose
- Medical subject headings
- Congenital Disorders of Glycosylation, Glucose Metabolism Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
D-GalactoseDietary supplement
D-Galactose is an oral powdered dietary supplement to be taken by mouth.
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Dietary Supplement: D-Galactose |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 18 weeks
Secondary outcomes (1)
Biomarkers for protein glycosylation
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.
Measured: 18 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 2016 (estimated)
- Study startJul 2014
- Primary completionNov 2017
- Study completionJan 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Congenital Disorders of GlycosylationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Dietary Supplement: D-Galactose
- Masking
- None (open label)
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- Tulane University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Eva Morava-Kozicz, MD, PhD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02955264
- Sponsor's protocol ID
- 14-517339
- Status last verified
- Jan 2021
- First submitted
- 14 Sep 2016
- Last updated
- 8 Jan 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 33743737
Study at a glance
From the registry record, last updated by the sponsor on 8 Jan 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation
- ClinicalTrials.gov ID
- NCT02955264
- Acronym / sponsor ID
- 14-517339
- Conditions
- Congenital Disorders of Glycosylation
- Keywords
- Glycosylation, Glucose Metabolic Disorder, Galactose
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 8 participants (actual)
- Lead sponsor
- Tulane UniversityUniversity, hospital or other
- Study start
- Jul 2014 (actual)
- Primary completion
- Nov 2017 (actual)
- Study completion
- Jan 2018 (actual)
- First posted
- 4 Nov 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Dietary Supplement: D-Galactose
| Arm | Type | Receives |
|---|---|---|
| D-Galactose | Experimental | Dietary Supplement: D-GalactoseD-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). |
Who may qualify
- Ages
- Up to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (1 listed)
- Biochemically and genetically proven Congenital Disorders of Glycosylation.
Key exclusion criteria (13 listed)
- Any of the following conditions:
- Aldolase B Deficiency
- Galactosemia (unable to process galactose)
- Hemolytic uremic syndrome
- Severe anemia
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| D-GalactoseD-Galactose is an oral powdered dietary supplement to be taken by mouth. | Dietary supplement | D-Galactose |
Primary outcome
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.
1 secondary outcome
Biomarkers for protein glycosylation
Time frame: 18 weeks
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jan 2021.
- Derived from this study: PubMed 33743737Witters 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Eva Morava-Kozicz, MD, PhD principal investigator
Mayo Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing D-Galactose in people with Congenital Disorders of Glycosylation, run by Tulane University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Jan 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Metabolic Function (time frame: 18 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02955264, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jan 2021.