Biomarker for Glycogen Storage Diseases (BioGlycogen)
NCT02385162 · Status: WITHDRAWN · Type: OBSERVATIONAL
Last updated 2023-02-13
Summary
Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.
Conditions
- Fructose Metabolism, Inborn Errors
- Glycogen Storage Disease
- Glycogen Storage Disease Type I
- Glycogen Storage Disease Type II
- Glycogen Storage Disease Type III
- Glycogen Storage Disease Type IV
- Glycogen Storage Disease Type V
- Glycogen Storage Disease Type VI
- Glycogen Storage Disease Type VII
- Glycogen Storage Disease Type VIII
Sponsors & Collaborators
-
CENTOGENE GmbH Rostock
lead INDUSTRY
Principal Investigators
-
Peter Bauer, Prof. · Centogene GmbH
Eligibility
- Min Age
- 2 Months
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2018-08-20
- Primary Completion
- 2021-02-28
- Completion
- 2021-02-28
Countries
- Germany
- India
- Sri Lanka
Study Locations
More Related Trials
-
Biomarker for Creatine Deficiency Syndromes (BioCDS)
NCT02934854 ·Status: WITHDRAWN
-
Rare Glycogen Storage Diseases Natural History Study
NCT06795152 ·Status: RECRUITING
-
Neurogenetics Patient Registry
NCT02995538 ·Status: RECRUITING
-
Genetic Data Collection in Adult Participants to Identify Genetic Variants of Known Importance in Non-alcoholic Steatohepatitis (NASH)
NCT05423327 ·Status: TERMINATED ·Phase: NA
-
Genetic Studies of Lysosomal Storage Disorders
NCT00001215 ·Status: ENROLLING_BY_INVITATION
-
Biomarkers in Neurodegenerative Diseases
NCT04055532 ·Status: WITHDRAWN
-
Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases
NCT02780531 ·Status: COMPLETED
-
Rare and Undiagnosed Disease Research Biorepository
NCT04703179 ·Status: ENROLLING_BY_INVITATION
-
BioGene Bank Cohort Study for Approved Research Requests
NCT02550171 ·Status: COMPLETED
-
Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
NCT04199000 ·Status: RECRUITING
-
Genetic, Metabolic, and Growth Factor Repository for Cerebrovascular Disorders
NCT02910180 ·Status: RECRUITING
-
Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions
NCT02365376 ·Status: UNKNOWN
-
The Informed Genetics Annotated Patient Registry
NCT04419896 ·Status: ENROLLING_BY_INVITATION
-
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
NCT04152876 ·Status: UNKNOWN
-
Parkinson's Disease G2019S LRRK2 Genetic Testing Program
NCT04919356 ·Status: TERMINATED
-
A Natural History Study of the Gangliosidoses
NCT00668187 ·Status: RECRUITING
-
The LD Lync Study - Natural History Study of Lipodystrophy Syndromes
NCT03087253 ·Status: RECRUITING
-
Studies of Children With Metabolic and Other Genetic Disorders
NCT00025870 ·Status: COMPLETED
-
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
NCT02450851 ·Status: RECRUITING
-
TSC Biosample Repository and Natural History Database
NCT05676099 ·Status: RECRUITING
-
Study of the Genome, Gut Metagenome and Diet of Patients With Incident Parkinson's Disease
NCT04119596 ·Status: TERMINATED
-
Rady Children's Institute Genomic Biorepository
NCT02917460 ·Status: RECRUITING ·Phase: NA
-
Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism
NCT04201067 ·Status: COMPLETED
-
Biobanking of Rett Syndrome and Related Disorders
NCT02705677 ·Status: COMPLETED
-
MRI and Muscle Involvement in Patients With Mutations in GMPPB
NCT02635321 ·Status: COMPLETED