Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
NCT ID: NCT00159198
Last Updated: 2008-09-08
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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TERMINATED
400 participants
OBSERVATIONAL
2002-09-30
2007-06-30
Brief Summary
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Mutations in the SOD1 and tau genes, respectively responsible for autosomal dominant forms of ALS and FTD, will be excluded by direct sequencing. We will then extend the pedigree of the 13 autosomal dominant families to all consenting first, second and eventually third degree relatives, using well defined criteria for FTD and ALS. The same strategy will be applied to newly identified families during the course of the project (at least, seven families with AD inheritance expected). Linkage studies will be performed in the 20 families using markers from the two candidate regions on chromosomes 9 and 15. Then, refinement of the candidate region will be obtained by analyzing the linked families with a high density of microsatellite markers. This should lead to the refinement of the candidate regions, allowing to search for mutations in candidate genes. Genes located within the critical regions will be prioritized for their analysis by sequencing, according to their expression in the nervous system and to their function.
Once the responsible gene(s) will be identified, it will then possible to define its spectrum of mutations and to establish genotype/phenotype correlations. Alternatively, if none of the candidate regions is confirmed, a genome wide search will be performed, allowing to identify one or more loci for ALS-FTD. The same strategy would then be applied to identify the corresponding gene(s). This project should contribute for identifying the molecular basis of this devastating disorder with practical consequences for genetic counselling in ALS-FTD families, and with the perspective of elucidating the pathophysiology of this disorder.
Detailed Description
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Conditions
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Keywords
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Study Design
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CASE_CONTROL
RETROSPECTIVE
Study Groups
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1
Patients with frontotemporal dementia and amyotrophic lateral sclerosis
No interventions assigned to this group
2
Relatives (first and second degree) of patients presenting an association of frontotemporal dementia with amyotrophic lateral sclerosis
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
18 Years
90 Years
ALL
Yes
Sponsors
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Assistance Publique - Hôpitaux de Paris
OTHER
Responsible Party
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Department Clinical Research of Developpement
Principal Investigators
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Alexis Brice, MD
Role: PRINCIPAL_INVESTIGATOR
Assistance Publique - Hôpitaux de Paris, University Paris 6
Locations
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CHU de la Côte de Nacre
Caen, , France
Centre Hospitalier Universitaire de Lille
Lille, , France
Hôpital La Timone
Marseille, , France
Hôpital Sainte-Marguerite
Marseille, , France
Hôpital Guillaume et René Laënnec
Nantes, , France
Hôpital de l'Archet
Nice, , France
Hôpital Pitié-Salpêtrière - Centre du Langage-Neuropsychologie
Paris, , France
Hôpital Pitié-Salpêtrière - Fédération de Neurologie
Paris, , France
Hôpital Pitié-Salpêtrière
Paris, , France
Hôpital Pontchaillou
Rennes, , France
Hôpital Charles Nicolle
Rouen, , France
Centre Hospitalier
Saint-Brieuc, , France
Hôpital Bellevue
Saint-Etienne, , France
Hôpital Civil
Strasbourg, , France
Hôpital Purpan
Toulouse, , France
Countries
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References
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Le Ber I, Guedj E, Gabelle A, Verpillat P, Volteau M, Thomas-Anterion C, Decousus M, Hannequin D, Vera P, Lacomblez L, Camuzat A, Didic M, Puel M, Lotterie JA, Golfier V, Bernard AM, Vercelletto M, Magne C, Sellal F, Namer I, Michel BF, Pasquier J, Salachas F, Bochet J; French research network on FTD/FTD-MND; Brice A, Habert MO, Dubois B. Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia. Brain. 2006 Nov;129(Pt 11):3051-65. doi: 10.1093/brain/awl288.
van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C. Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. Hum Mutat. 2007 Apr;28(4):416. doi: 10.1002/humu.9484.
Le Ber I, van der Zee J, Hannequin D, Gijselinck I, Campion D, Puel M, Laquerriere A, De Pooter T, Camuzat A, Van den Broeck M, Dubois B, Sellal F, Lacomblez L, Vercelletto M, Thomas-Anterion C, Michel BF, Golfier V, Didic M, Salachas F, Duyckaerts C, Cruts M, Verpillat P, Van Broeckhoven C, Brice A; French Research Network on FTD/FTD-MND. Progranulin null mutations in both sporadic and familial frontotemporal dementia. Hum Mutat. 2007 Sep;28(9):846-55. doi: 10.1002/humu.20520.
Guedj E, Le Ber I, Lacomblez L, Dubois B, Verpillat P, Didic M, Salachas F, Vera P, Hannequin D, Lotterie JA, Puel M, Decousus M, Thomas-Anterion C, Magne C, Vercelletto M, Bernard AM, Golfier V, Pasquier J, Michel BF, Namer I, Sellal F, Bochet J, Volteau M, Brice A, Meininger V; French Research Network on FTD/FTD-MND; Habert MO. Brain spect perfusion of frontotemporal dementia associated with motor neuron disease. Neurology. 2007 Jul 31;69(5):488-90. doi: 10.1212/01.wnl.0000266638.53185.e7. No abstract available.
Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Van Broeckhoven C, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A; French research network on FTD/FTD-MND. Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain. 2008 Mar;131(Pt 3):732-46. doi: 10.1093/brain/awn012. Epub 2008 Feb 1.
Related Links
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Related Info
Other Identifiers
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P011023
Identifier Type: -
Identifier Source: secondary_id
CRC01107
Identifier Type: -
Identifier Source: org_study_id
NCT00140777
Identifier Type: -
Identifier Source: nct_alias