Identification of New FTLD Genes

NCT02363062 | Unknown

• 1 other identifier: 2014-A00157-40
• Study Type: observational
• Target: 440
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

frontotemporal lobar degeneration; genes; whole exome sequencing

Outcome Measures

Primary Outcomes (1)

• whole exome sequencing

  genes responsible for FTLD /Blood samples will be collected by a nurse, during a single consultation or hospitalization

  Day 1

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients affected by FTLD±ALS according to the international diagnosis criteria and their relatives

Patients are included if they: i) are affected by FTLD±ALS according to the international diagnosis criteria and ii) Have (or their legal representatives have) given signed written informed consent for the research. iii) are affiliated to social security or beneficiary of such régime Relatives are included if they: i) are aged \>18 years and ii) Have signed an informed consent for the research. are affiliated to social security or beneficiary of such

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Pitié Salpetriere Hospital

Paris, 75013, France

RECRUITING

Related Publications (2)

• Ceslis A, Argall R, Henderson RD, McCombe PA, Robinson GA. The spectrum of language impairments in amyotrophic lateral sclerosis. Cortex. 2020 Nov;132:349-360. doi: 10.1016/j.cortex.2020.09.003. Epub 2020 Sep 18.

  PMID: 33031977 DERIVED

• Didic M, Aglieri V, Tramoni-Negre E, Ronat L, Le Ber I, Ceccaldi M, Belin P, Felician O. Progressive phonagnosia in a telephone operator carrying a C9orf72 expansion. Cortex. 2020 Nov;132:92-98. doi: 10.1016/j.cortex.2020.05.022. Epub 2020 Aug 10.

  PMID: 32961393 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be collected by a nurse, during a single consultation or hospitalization

MeSH Terms

Conditions

Frontotemporal Lobar Degeneration

Condition Hierarchy (Ancestors)

Dementia; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; TDP-43 Proteinopathies; Neurodegenerative Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Neurocognitive Disorders; Mental Disorders

Study Officials

• Isabelle LE BER, MD, PhD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Isabelle LE BER, MD, PhD

CONTACT

(+33) 01 57 27 46 79; isabelle.leber@upmc.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 9, 2015
• First Posted: February 13, 2015
• Study Start: February 2, 2015
• Primary Completion: February 1, 2019
• Study Completion: February 1, 2019
• Last Updated: August 29, 2017

Record last verified: 2016-08

Locations

FR (1)