Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment
NCT ID: NCT00149175
Last Updated: 2025-01-23
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
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
COMPLETED
2256 participants
OBSERVATIONAL
2002-12-31
2020-12-31
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
Among these disorders, a monogenic sub-group has been identified. In Alzheimer's disease, it is associated with the APP, PSEN1 and PSEN2 genes, which account only for 75% of the familial forms with early onset. In frontotemporal dementias, the tau gene mutations account only for 10% of the cases with an autosomal dominant inheritance. The identification of familial forms with a genetic inquiry in the relatives is essential for a greater knowledge of the molecular bases of forms not caused by the known genes, using linkage approaches and candidate gene analysis. The familial forms are also useful for identifying the modifier genes.
In the multifactorial forms, the aim is to assemble a wide cohort of patients and controls matched for localizing and identifying susceptibility genetic factors. The strategies will use a candidate gene approach, and in the near future, studies of single nucleotide polymorphisms (SNPs) spread out in the whole genome. Meanwhile, similar approaches, particularly with candidate genes, could be used for identifying predictive factors of tolerance and response to the treatment.
Finally, correlations will be performed with seric markers according to each kind of dementia.
Specialized clinical teams in diagnosis and follow-up in dementias are assembled for this project, and in the study of neurological disorders of genetic origin.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Prediction of Cognitive Properties of Memantine for Neurodegenerative Diseases
NCT02288000
A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of DNL593 in Healthy Participants and Participants With Frontotemporal Dementia (FTD-GRN)
NCT05262023
Screening and Evaluation of Patients With Signs and Symptoms of Alzheimer's Disease
NCT00955422
Blood Gene Expression Signature in Patients Diagnosed With Probable Alzheimer's Disease Compared to Patients Suffering From Other Types of Dementia
NCT00880347
Prediction of Cognitive Properties of New Drug Candidates for Neurodegenerative Diseases in Early Clinical Development
NCT01487395
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
CASE_CONTROL
PROSPECTIVE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Neurodegenerative disorders with cognitive impairment
Blood sampling, skin biopsy
Blood sampling, skin biopsy in the field of the medical follow-up
Control
Blood sampling, skin biopsy
Blood sampling, skin biopsy in the field of the medical follow-up
At risk reactive
Blood sampling, skin biopsy
Blood sampling, skin biopsy in the field of the medical follow-up
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
Blood sampling, skin biopsy
Blood sampling, skin biopsy in the field of the medical follow-up
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* Relatives for the familial cases
Exclusion Criteria
* Minors
* Persons refusing to sign the informed consent
18 Years
90 Years
ALL
Yes
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Aventis Pharmaceuticals
INDUSTRY
Institut National de la Santé Et de la Recherche Médicale, France
OTHER_GOV
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Alexis Brice, MD
Role: PRINCIPAL_INVESTIGATOR
Assistance Publique - Hôpitaux de Paris, University Paris 6
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
CHU de la Côte de Nacre
Caen, , France
Hôpital Sainte-Marguerite
Marseille, , France
Hôpital Guillaume et René Laennec
Nantes, , France
Hôpital de l'Archet
Nice, , France
Pitié-Salpêtrière Hospital - Centre du Langage et de Neuropsychologie
Paris, , France
Pitié-Salpêtrière Hospital - Fédération de Neurologie
Paris, , France
Pitié-Salpêtrière Hospital
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
Countries
Review the countries where the study has at least one active or historical site.
References
Explore related publications, articles, or registry entries linked to this study.
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.
Baba Y, Baker MC, Le Ber I, Brice A, Maeck L, Kohlhase J, Yasuda M, Stoppe G, Bugiani O, Sperfeld AD, Tsuboi Y, Uitti RJ, Farrer MJ, Ghetti B, Hutton ML, Wszolek ZK. Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. J Neural Transm (Vienna). 2007 Jul;114(7):947-50. doi: 10.1007/s00702-007-0632-9. Epub 2007 Feb 23.
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.
Related Links
Access external resources that provide additional context or updates about the study.
Related Info
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
DGS2004/0525
Identifier Type: REGISTRY
Identifier Source: secondary_id
RBM02-59
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.