Omics Gaucher Study: Multiomic Approach
NCT05526664 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 25
Last updated 2025-06-26
Summary
The study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.
Conditions
- Gaucher Disease
Interventions
- OTHER
-
Genetic testing and Omics analysis
Blood sample for genetic analysis and for Omics analysis as metabolomics and transcriptomics
Sponsors & Collaborators
-
CENTOGENE GmbH Rostock
lead INDUSTRY
Principal Investigators
-
Peter Bauer, MD · CENTOGENE GmbH
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2022-10-06
- Primary Completion
- 2025-12-31
- Completion
- 2025-12-31
Countries
- Germany
Study Locations
More Related Trials
-
Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"
NCT03954652 ·Status: COMPLETED ·Phase: NA
-
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
NCT05499091 ·Status: RECRUITING ·Phase: NA
-
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
NCT06595940 ·Status: RECRUITING
-
Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing
NCT03065686 ·Status: RECRUITING ·Phase: NA
-
Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
NCT06776341 ·Status: RECRUITING
-
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
NCT01375543 ·Status: COMPLETED
-
TRIAGE-GS: Towards Reducing Inefficiencies Affecting Genetics Encounters Through Genome Sequencing
NCT06935019 ·Status: ENROLLING_BY_INVITATION ·Phase: NA
-
Identification of Genetic Factors Determining Disease Course in the New Type of Coronavirus Infection, COVID-19
NCT04426253 ·Status: UNKNOWN
-
Evaluation of the Diagnostic Contribution of High-throughput Exome Sequencing for Patients With Convulsive Encephalopathy of Unknown Etiology: Pilot Study to Improve Genetic Counselling
NCT03652246 ·Status: COMPLETED
-
Improving Genetic Medicine for Ethnic Minority Groups
NCT07309835 ·Status: NOT_YET_RECRUITING
-
A Natural History Study of the Gangliosidoses
NCT00668187 ·Status: RECRUITING
-
Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing
NCT03605004 ·Status: COMPLETED
-
The Informed Genetics Annotated Patient Registry
NCT04419896 ·Status: ENROLLING_BY_INVITATION
-
The Genetics of Evoked Responses to Niacin and Endotoxemia: The GENE Study
NCT00953667 ·Status: COMPLETED ·Phase: NA
-
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
NCT04760522 ·Status: RECRUITING ·Phase: NA
-
Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions
NCT06235580 ·Status: RECRUITING
-
Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing
NCT02558478 ·Status: UNKNOWN
-
Clinical Trial of the Sequence of Cardiovascular Genetic Counseling and Testing
NCT05422573 ·Status: ENROLLING_BY_INVITATION ·Phase: NA
-
Genetic Studies of Lysosomal Storage Disorders
NCT00001215 ·Status: ENROLLING_BY_INVITATION
-
Research for Individualized Therapeutics in Rare Genetic Disease
NCT05236595 ·Status: ENROLLING_BY_INVITATION
-
Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
NCT04967716 ·Status: UNKNOWN
-
Experiences of Genetics Patients With Visible Abnormalities Who Facilitate Teaching in Genetics Clinics
NCT00341718 ·Status: COMPLETED
-
Whole-exome Sequencing in Childhood Obesity
NCT02418377 ·Status: COMPLETED
-
Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype
NCT05425953 ·Status: RECRUITING
-
Establishment of Reproductive Cohort and Prediction Model of Genetic Counseling for Mitochondrial Genetic Diseases
NCT06450964 ·Status: ENROLLING_BY_INVITATION