NCT02558478
Unknown
Not Applicable
Identification of New Genes Implicated in Rare Neurosensory Diseases by Whole Exome Sequencing
University Hospital, Strasbourg, France1 site in 1 country39 target enrollmentSeptember 2015
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Neurosensory Diseases
- Sponsor
- University Hospital, Strasbourg, France
- Enrollment
- 39
- Locations
- 1
- Primary Endpoint
- Whole exome sequencing data
- Last Updated
- 9 years ago
Overview
Brief Summary
Next Generation Sequencing (NGS) strategy is a powerful tool to identify genes implicated in very rare diseases for which the previous genetic explorations remain negative to date. The aim of this project is based on groups of patients with original clinical phenotypes including neurosensory impairment without genetic cause identified to date. The investigators will study these families using whole exome sequencing to potentially identify new genes and new underlying biological pathways involved in neurosensory diseases.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Original phenotype with neurosensory diseases
- •Written, informed consent obtained
Exclusion Criteria
- •Refusal to participate at the study
- •Prior inclusion in a similar study (NGS)
Outcomes
Primary Outcomes
Whole exome sequencing data
Time Frame: 21 months
Study Sites (1)
Loading locations...
Similar Trials
Recruiting
Not Applicable
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGINRare DiseasesGenetic DiseaseNCT05499091University Hospital, Angers1,200
Unknown
Not Applicable
Identifying Genomic Mutations of Multiple Primary Lung Cancers by Circulating Tumor DNACarcinomaNon-small-cell Lung CancerThoracic NeoplasmsNCT02833467Peking University People's Hospital45
Completed
Not Applicable
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical ProtocolsGenetic PredispositionNCT01375543Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)128
Completed
Not Applicable
Targeted Next Generation Sequencing and Intellectual DisabilityIntellectual DisabilityNCT02889068Central Hospital, Nancy, France40
Unknown
Not Applicable
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation SequencingFamilial LipomatosisVery Rare Dermatologic DiseasesNCT02509650University Hospital, Strasbourg, France25