Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
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|ClinicalTrials.gov Identifier: NCT04201067|
Recruitment Status : Enrolling by invitation
First Posted : December 17, 2019
Last Update Posted : January 18, 2023
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|Condition or disease|
|Congenital Disorders of Glycosylation|
|Study Type :||Observational|
|Estimated Enrollment :||510 participants|
|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 :||August 2024|
|Estimated Study Completion Date :||August 2024|
- 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.
Biospecimen Retention: Samples With DNA
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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|
- All individuals with specimens in Biochemical Genetics Laboratory and from patients collected under another IRB who have agreed to share samples/data
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
|United States, Minnesota|
|Mayo Clinic in Rochester|
|Rochester, Minnesota, United States, 55905|
|Principal Investigator:||Eva Morava-Kozicz, MD, PhD||Mayo Clinic|
Documents provided by Eva Morava-Kozicz, Mayo Clinic:
|Responsible Party:||Eva Morava-Kozicz, Principal Investigator, Mayo Clinic|
|Other Study ID Numbers:||
U54NS115198-01 ( U.S. NIH Grant/Contract )
|First Posted:||December 17, 2019 Key Record Dates|
|Last Update Posted:||January 18, 2023|
|Last Verified:||January 2023|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Yes|
|Plan Description:||Information and samples can be shared at PI's discretion.|
|Time Frame:||length of study|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Metabolism, Inborn Errors
Congenital Disorders of Glycosylation
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors