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Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism

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. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04201067
Recruitment Status : Active, not recruiting
First Posted : December 17, 2019
Last Update Posted : December 18, 2019
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Eva Morava-Kozicz, Mayo Clinic

Brief 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.

Condition or disease
Congenital Disorders of Glycosylation

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.

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Study Type : Observational
Estimated Enrollment : 160 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
Actual Study Start Date : October 8, 2019
Estimated Primary Completion Date : October 1, 2024
Estimated Study Completion Date : December 31, 2024





Primary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.


Biospecimen Retention:   Samples With DNA
Stool, urine, DBS, fibroblasts, and blood can be retained for biomarker testing. DNA may be a part of this testing in the future.


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
These individuals will likely have a congenital disorder of glycosylation or other metabolic disease.
Criteria

Inclusion Criteria:

  • All individuals with specimens in Biochemical Genetics Laboratory and from patients collected under another IRB who have agreed to share samples/data

Exclusion Criteria:

  • None

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): NCT04201067


Locations
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United States, Minnesota
Mayo Clinic in Rochester
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
Mayo Clinic
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
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Principal Investigator: Eva Morava-Kozicz, MD, PhD Mayo Clinic
  Study Documents (Full-Text)

Documents provided by Eva Morava-Kozicz, Mayo Clinic:
Study Protocol  [PDF] November 7, 2019

Additional Information:
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Responsible Party: Eva Morava-Kozicz, Principal Investigator, Mayo Clinic
ClinicalTrials.gov Identifier: NCT04201067    
Other Study ID Numbers: 16-004682
U54NS115198-01 ( U.S. NIH Grant/Contract )
First Posted: December 17, 2019    Key Record Dates
Last Update Posted: December 18, 2019
Last Verified: December 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Information and samples can be shared at PI's discretion.
Supporting Materials: Study Protocol
Time Frame: length of study

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Metabolism, Inborn Errors
Congenital Disorders of Glycosylation
Genetic Diseases, Inborn
Metabolic Diseases
Carbohydrate Metabolism, Inborn Errors