Identification of New FTLD Genes
NCT02363062 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 440
Last updated 2017-08-29
Summary
The major objective of the project is to map/identify new loci/genes, by a combination of whole exome sequencing and genome-wide linkage in autosomal dominant FTLD families excluded for known mutations.
Several secondary goals will be attained in the course of during the project:
For each novel gene identified in this project, we will determine the spectrum of mutations, evaluate their frequency and characterize the associated phenotypes. This will allow us to establish genotype-phenotype correlations in a large number of families, which will improve the nosology of these disorders and the diagnostic procedures;
Conditions
- Frontotemporal Lobar Degeneration
Sponsors & Collaborators
-
Assistance Publique - Hôpitaux de Paris
lead OTHER
Principal Investigators
-
Isabelle LE BER, MD, PhD · Assistance Publique - Hôpitaux de Paris
Eligibility
- Min Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2015-02-02
- Primary Completion
- 2019-02-01
- Completion
- 2019-02-01
Countries
- France
Study Locations
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