Congenital Disorders of GlycosylationNCT04201067
Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
An observational study of Congenital Disorders of Glycosylation, run by Mayo Clinic at 1 site in United States.
Trial summary
Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Congenital Disorders of Glycosylation
- How many people
- 240 participants
- Where
- 1 siteUnited States
- Study dates
- 8 Oct 2019to 12 Mar 2025
- Phase
- Observational
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: These individuals will likely have a congenital disorder of glycosylation or other metabolic disease.
Who may be able to join
- All individuals with specimens in Biochemical Genetics Laboratory and from patients collected under another IRB who have agreed to share samples/data
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
United States1 site
Mayo Clinic in Rochester
Rochester, Minnesota, 55905
About this study
Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods.
Read the detailed description
Residual samples will be tested for a variety of biomarkers that may lead to better understanding of these disorders and help develop treatment options.
- Conditions
- Congenital Disorders of Glycosylation
- Medical subject headings
- Congenital Disorders of Glycosylation
What is being measured
The primary outcome is the main question the study is designed to answer.
Quantify N-linked glycan intermediates in plasma and urine
Measure N-linked glycan intermediates in plasma and urine from PMM2-CDG patients.
Measured: length of study, up to 5 years
Develop quantitative biomarkers for PGM1-CDG patients to monitor the efficacy of galactose therapy.
Measure the 41 plasma N-glycan levels in 9 PGM1-CDG patients before and after galactose therapy.
Measured: length of study, up to 5 years
Develop quantitative biomarkers for SLC35A2-CDG patients and monitor galactose therapy efficacy.
Measure levels of plasma N-glycans from 10 SLC35A2-CDG patients before and after galactose therapy.
Measured: length of study, up to 5 years
Validate biomarker to diagnose and follow NGLY1 deficiency and monitor N-acetylglucosamine (GlcNAc) therapy response.
Measure the level of Sia-Gal-GlcNAc-Asn biomarker excretion during GlCNAc therapy.
Measured: length of study, up to 5 years
Validate novel diagnostic biomarkers for ALG13-CDG
Measure GlcNAc-β-Asn on glycoproteins in the cells from the already available fibroblast of 9 ALG13 patients.
Measured: length of study, up to 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Dec 2019
- Study start8 Oct 2019
- Primary completion12 Mar 2025
- Study completion12 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital Disorders of GlycosylationStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Case only
- Time perspective
- Retrospective
- Enrolment
- 240 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, David R. Deyle, Mayo Clinic
- Investigators
- David Deyle, MD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04201067
- Sponsor's protocol ID
- 16-004682
- Other IDs
- U54NS115198-01
- Status last verified
- Sep 2025
- First submitted
- 8 Dec 2019
- Last updated
- 3 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Information and samples can be shared at PI's discretion.
Study at a glance
From the registry record, last updated by the sponsor on 3 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
- ClinicalTrials.gov ID
- NCT04201067
- Acronym / sponsor ID
- 16-004682
- Conditions
- Congenital Disorders of Glycosylation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 240 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- 8 Oct 2019 (actual)
- Primary completion
- 12 Mar 2025 (actual)
- Study completion
- 12 Mar 2025 (actual)
- First posted
- 17 Dec 2019 (actual)
- 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.
Researchers are trying to determine the efficacy of a global metabolomic approach in testing for and diagnosing inborn errors of metabolism as opposed to traditional testing methods.
Detailed description
Residual samples will be tested for a variety of biomarkers that may lead to better understanding of these disorders and help develop treatment options.
Study design
- Observational model
- Case only
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- These individuals will likely have a congenital disorder of glycosylation or other metabolic disease.
Key inclusion criteria (1 listed)
- All individuals with specimens in Biochemical Genetics Laboratory and from patients collected under another IRB who have agreed to share samples/data
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Quantify N-linked glycan intermediates in plasma and urine
Time frame: length of study, up to 5 years
Measure N-linked glycan intermediates in plasma and urine from PMM2-CDG patients.
Develop quantitative biomarkers for PGM1-CDG patients to monitor the efficacy of galactose therapy.
Time frame: length of study, up to 5 years
Measure the 41 plasma N-glycan levels in 9 PGM1-CDG patients before and after galactose therapy.
Develop quantitative biomarkers for SLC35A2-CDG patients and monitor galactose therapy efficacy.
Time frame: length of study, up to 5 years
Measure levels of plasma N-glycans from 10 SLC35A2-CDG patients before and after galactose therapy.
Validate biomarker to diagnose and follow NGLY1 deficiency and monitor N-acetylglucosamine (GlcNAc) therapy response.
Time frame: length of study, up to 5 years
Measure the level of Sia-Gal-GlcNAc-Asn biomarker excretion during GlCNAc therapy.
Validate novel diagnostic biomarkers for ALG13-CDG
Time frame: length of study, up to 5 years
Measure GlcNAc-β-Asn on glycoproteins in the cells from the already available fibroblast of 9 ALG13 patients.
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 3 Oct 2025.
- Mayo Clinic Clinical TrialsLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Information and samples can be shared at PI's discretion.
Related trials for Congenital Disorders of Glycosylation
RecruitingObservational study
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation
Enrolling by invitationPhase 2
Open-Label Extension Study to Assess GLM101 in PMM2-CDG Patients
Pmm2-CDG, Phosphomannomutase 2 Deficiency
Active, not recruitingPhase 2/3
A Study to Assess the Efficacy and Safety of Weekly Doses of GLM101 in Participants With PMM2-CDG
Phosphomannomutase 2 Deficiency, PMM2-CDG
RecruitingObservational study
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
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.
David Deyle, MD 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?
An observational study of Congenital Disorders of Glycosylation, run by Mayo Clinic 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 1 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 3 Oct 2025. 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?
Quantify N-linked glycan intermediates in plasma and urine (time frame: length of study, up to 5 years). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 3 Oct 2025.