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| ID | Type | Description | Link |
|---|---|---|---|
| U54NS115198-01 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
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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.
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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| Measure | Description | Time Frame |
|---|---|---|
| Quantify N-linked glycan intermediates in plasma and urine | Measure N-linked glycan intermediates in plasma and urine from PMM2-CDG patients. | 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. | 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. | 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. | 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. | length of study, up to 5 years |
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Inclusion Criteria:
Exclusion Criteria:
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These individuals will likely have a congenital disorder of glycosylation or other metabolic disease.
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| Name | Affiliation | Role |
|---|---|---|
| David Deyle, MD | Mayo Clinic | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Mayo Clinic in Rochester | Rochester | Minnesota | 55905 | United States |
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| Label | URL |
|---|---|
| Mayo Clinic Clinical Trials | View source |
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Information and samples can be shared at PI's discretion.
length of study
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| ID | Term |
|---|---|
| D018981 | Congenital Disorders of Glycosylation |
| ID | Term |
|---|---|
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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Stool, urine, DBS, fibroblasts, and blood can be retained for biomarker testing. DNA may be a part of this testing in the future.
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |