Clinical and Genetic Study of Neurodegenerative Disorders with Cognitive Impairment

Completed

• Conditions: Alzheimer's Disease; Dementia; Neurodegenerative Disorders
• Interventions: Other: Blood sampling, skin biopsy

• Registration Number: NCT00149175
• Lead Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2002-12
• Study First Submitted: 2005-09-06
• Study First Submitted QC: 2005-09-06
• Study First Posted: 2005-09-08
• Primary Completion: 2020-12-31
• Study Completion: 2020-12-31
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-21
• Last Update Posted: 2025-01-23

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 2256

Inclusion Criteria

• 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

Exclusion Criteria

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Neurodegenerative disorders with cognitive impairment	Blood sampling, skin biopsy	-
Control	Blood sampling, skin biopsy	-
At risk reactive	Blood sampling, skin biopsy	-

Trial Locations

Locations (12)

Hôpital Sainte-Marguerite; 🇫🇷 Marseille, France

Hôpital Guillaume et René Laennec; 🇫🇷 Nantes, France

CHU de la Côte de Nacre; 🇫🇷 Caen, 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