Developing Derived Induced Pluripotent Stem Cells as a Model to Understand Imprinted Disorders
NCT05214742 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 20
Last updated 2022-04-28
Summary
Fetal and postnatal growth is finely regulated by genetic, epigenetic and environmental mechanisms. Parental imprinting is a regulatory mechanism that allows monoallelic expression of certain genes from a single parental allele through differential DNA methylation. Imprinted genes play a very important role in the control of fetal and postnatal growth. The pathophysiological mechanisms of these epimutations are largely unknown.
Studying the consequences of these epimutations on the molecular signature of the imprinted gene network in these patients would provide a better understanding of the epigenetic mechanisms regulating fetal growth. As these genes are weakly expressed in fibroblasts, these studies will be carried out on pluripotent stem cells or IPSCs (Induced Pluripotent Stem Cells).
Conditions
- Induced Pluripotent Stem Cells
Interventions
- OTHER
-
Diagnostic Test
Molecular diagnosis carried out in the context of care
Sponsors & Collaborators
-
Institute of Cardiometabolism and Nutrition, France
lead OTHER
Principal Investigators
-
Irène NETCHINE · Institut National de la Santé Et de la Recherche Médicale, France
Eligibility
- Min Age
- 3 Months
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2022-01-19
- Primary Completion
- 2022-01-30
- Completion
- 2026-12-31
Countries
- France
Study Locations
More Related Trials
-
Prenatal Molecular Characterisation by CGH+SNP-ARRAY of Supernumerary Marker Chromosomes and de Novo Apparently Balanced Reciprocal Translocations
NCT01907425 ·Status: TERMINATED ·Phase: NA
-
Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome
NCT06014541 ·Status: TERMINATED
-
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism
NCT00369421 ·Status: RECRUITING
-
Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
NCT04122742 ·Status: RECRUITING
-
Identifying New Genetic Causes to Development Disorders
NCT03283852 ·Status: RECRUITING
-
Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases
NCT04024774 ·Status: RECRUITING
-
The Role of Glucocorticoid Receptor SNPs in Receptor Function and Metabolic Disease
NCT01143493 ·Status: COMPLETED
-
Contribution of High-throughput Exome Sequencing in the Diagnosis of the Cause Fetal Polymalformation Syndromes
NCT02512354 ·Status: COMPLETED
-
Effect of Functional Genetic Polymorphisms on Brain Morphology and Function
NCT01035723 ·Status: COMPLETED
-
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
NCT05161169 ·Status: COMPLETED ·Phase: NA
-
Personalized Genomic Research
NCT01294345 ·Status: COMPLETED
-
The Molecular Basis of Inherited Reproductive Disorders
NCT05971836 ·Status: ACTIVE_NOT_RECRUITING
-
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
NCT00046202 ·Status: COMPLETED
-
Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing
NCT03605004 ·Status: COMPLETED
-
Biobanking of Rett Syndrome and Related Disorders
NCT02705677 ·Status: COMPLETED
-
Genetic Causes of Growth Disorders
NCT02311322 ·Status: TERMINATED
-
Transcriptomic Approach for the Identification and Prioritization of Genome Variants in Neurodevelopmental Disorders With Malformation
NCT06762678 ·Status: NOT_YET_RECRUITING ·Phase: NA
-
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
NCT01375543 ·Status: COMPLETED
-
Omic Approaches to Neurodevelopmental Disabilities
NCT06337396 ·Status: COMPLETED ·Phase: NA
-
Decoding the Genetic Landscape of Skeletal Diseases
NCT05876416 ·Status: RECRUITING
-
Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents
NCT02859688 ·Status: COMPLETED
-
Retrospective Review of the Outcomes of Newborns With Genetic Abnormalities
NCT00366821 ·Status: COMPLETED
-
Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings
NCT04315727 ·Status: RECRUITING ·Phase: NA
-
Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin
NCT05767203 ·Status: RECRUITING ·Phase: NA
-
Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases
NCT03971292 ·Status: UNKNOWN