Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment

NCT00149175 | Completed

• 2 other identifiers: RBM02-59DGS2004/0525
• Study Type: observational
• Target: 2,256
• Locations: 1 country
• Sites: 12

Brief Summary

Patients with different types of dementia will be recruited and evaluated in national hospital departments for their usual neurological follow-ups. A blood sample will be proposed in the field of this research project, and the biological material will be stored at the DNA and Cell Bank of Institut de Fédératif Recherche (IFR) of Neurosciences (Pitié-Salpêtrière Hospital, Paris). The clinical research network is already set up for Alzheimer's disease and frontotemporal dementias, which permits an evaluation according to a clinical standardized protocol. 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.

Conditions

Alzheimer's Disease; Dementia; Neurodegenerative Disorders

Keywords

Alzheimer's disease; Dementia; Phenotype-genotype correlations; Candidate genes; Related disorders

Study Arms (3)

Neurodegenerative disorders with cognitive impairment

Other: Blood sampling, skin biopsy

Control

Other: Blood sampling, skin biopsy

At risk reactive

Other: Blood sampling, skin biopsy

Interventions

Blood sampling, skin biopsy OTHER

Blood sampling, skin biopsy in the field of the medical follow-up

At risk reactive; Control; Neurodegenerative disorders with cognitive impairment

Eligibility Criteria

• Age: 18 Years - 90 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

* Patients presenting with a neurodegenerative disorder * At risk patients

You may qualify if:

• Patients presenting with a neurodegenerative disorder with cognitive impairment controls (without signs of the disease), matched with sex and age with the patients
• Relatives for the familial cases

You may not qualify if:

• Pregnant women
• Minors
• Persons refusing to sign the informed consent

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead
• Aventis Pharmaceuticals: collaborator

Study Sites (12)

CHU de la Côte de Nacre

Caen, 14000, France

Location

Hôpital Sainte-Marguerite

Marseille, 13009, France

Location

Hôpital Guillaume et René Laennec

Nantes, 44000, France

Location

Hôpital de l'Archet

Nice, 06000, France

Location

Pitié-Salpêtrière Hospital - Centre du Langage et de Neuropsychologie

Paris, 75013, France

Location

Pitié-Salpêtrière Hospital - Fédération de Neurologie

Paris, 75013, France

Location

Pitié-Salpêtrière Hospital

Paris, 75013, France

Location

Hôpital Pontchaillou

Rennes, 35000, France

Location

Hôpital Charles Nicolle

Rouen, 76000, France

Location

Centre Hospitalier

Saint-Brieuc, 22000, France

Location

Hôpital Bellevue

Saint-Etienne, 42000, France

Location

Hôpital Civil

Strasbourg, 67000, France

Location

Related Publications (5)

• 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.

  PMID: 17071924 BACKGROUND

• 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.

  PMID: 17345602 BACKGROUND

• 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.

  PMID: 17318302 BACKGROUND

• 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.

  PMID: 17436289 BACKGROUND

• 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.

  PMID: 17664410 BACKGROUND

Related Links

• Related Info

MeSH Terms

Conditions

Alzheimer Disease; Dementia; Neurodegenerative Diseases

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Tauopathies; Neurocognitive Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Alexis Brice, MD

  Assistance Publique - Hôpitaux de Paris, University Paris 6

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 6, 2005
• First Posted: September 8, 2005
• Study Start: December 1, 2002
• Primary Completion: December 31, 2020
• Study Completion: December 31, 2020
• Last Updated: January 23, 2025

Record last verified: 2025-01

Locations

FR (12)