Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)
NCT02298647 · Status: WITHDRAWN · Type: OBSERVATIONAL
Last updated 2023-02-13
Summary
Development of a new MS-based biomarker for the ear-ly and sensitive diagnosis of GM1/GM2 from blood
Conditions
- Hepato-splenomegaly
- Dysostosis Multiplex
- Seizures
- Mental Retardation
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
- Egypt
- Germany
- India
- Sri Lanka
Study Locations
More Related Trials
-
Study of the Genome, Gut Metagenome and Diet of Patients With Incident Parkinson's Disease
NCT04119596 ·Status: TERMINATED
-
Biomarker for Creatine Deficiency Syndromes (BioCDS)
NCT02934854 ·Status: WITHDRAWN
-
MRI and Muscle Involvement in Patients With Mutations in GMPPB
NCT02635321 ·Status: COMPLETED
-
Natural History Study of GATA2 Deficiency and Related Disorders
NCT01905826 ·Status: RECRUITING
-
Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases
NCT02780531 ·Status: COMPLETED
-
Genome Medical Sequencing for Gene Discovery
NCT01087320 ·Status: RECRUITING
-
Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
NCT02588638 ·Status: UNKNOWN
-
New Genes Involved in Molecular Etiology of Rett Syndrome Through DNA Microarray Comparative Genomic Hybridization
NCT02885090 ·Status: COMPLETED ·Phase: NA
-
Epilepsy Phenome/Genome Project
NCT00552045 ·Status: COMPLETED
-
GWAS in NMDAR Encephalitis
NCT05225883 ·Status: RECRUITING
-
Genetic Studies of Lysosomal Storage Disorders
NCT00001215 ·Status: ENROLLING_BY_INVITATION
-
Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
NCT06776341 ·Status: RECRUITING
-
G6PD Deficiency in Infarction Patients in Shaanxi Province
NCT05026489 ·Status: UNKNOWN
-
Validation of Useful Markers Generated by Next Generation Bio-data Based Genome Research and Cohort Study
NCT02807896 ·Status: COMPLETED
-
Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions
NCT06235580 ·Status: RECRUITING
-
Neurogenetics Patient Registry
NCT02995538 ·Status: RECRUITING
-
Limbal Stem Cell Deficiency of Genetic Origin: Genotype-phenotype Correlation
NCT02886611 ·Status: RECRUITING
-
Genetic Identification of Monogenic Disorders in Early-onset Stroke Using Targeted Next Generation Sequencing Panel
NCT04485598 ·Status: COMPLETED
-
Genetic Disease Gene Identification
NCT00916903 ·Status: TERMINATED
-
Ataxia GAA-FGF14 - Descriptive Genetic and Clinical Study
NCT05884086 ·Status: ACTIVE_NOT_RECRUITING
-
Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
NCT04941027 ·Status: COMPLETED
-
The Genotype and Phenotype of Lymphangioleiomyomatosis
NCT06405997 ·Status: RECRUITING
-
Genetic Study of Newly Diagnosed Central Nervous System Tumors in Young Children
NCT00010114 ·Status: COMPLETED
-
Study of Clinical and Molecular Manifestations of Genetic Disorders
NCT00001466 ·Status: COMPLETED
-
Identification of New FTLD Genes
NCT02363062 ·Status: UNKNOWN