Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment

May 18, 2026 updated by: Institut National de la Santé Et de la Recherche Médicale, France

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

2256

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Caen, France, 14000
        • CHU de la Côte de Nacre
      • Marseille, France, 13009
        • Hôpital Sainte-Marguerite
      • Nantes, France, 44000
        • Hopital Guillaume Et Rene Laennec
      • Nice, France, 06000
        • Hôpital de l'Archet
      • Paris, France, 75013
        • Pitié-Salpêtrière Hospital
      • Paris, France, 75013
        • Pitié-Salpêtrière Hospital - Centre du Langage et de Neuropsychologie
      • Paris, France, 75013
        • Pitié-Salpêtrière Hospital - Fédération de Neurologie
      • Rennes, France, 35000
        • Hopital Pontchaillou
      • Rouen, France, 76000
        • Hôpital Charles Nicolle
      • Saint-Brieuc, France, 22000
        • Centre Hospitalier
      • Saint-Etienne, France, 42000
        • Hôpital Bellevue
      • Strasbourg, France, 67000
        • Hôpital Civil

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 90 years (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

  • Patients presenting with a neurodegenerative disorder
  • At risk patients

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Control
Other: Blood sampling, skin biopsy
Blood sampling, skin biopsy in the field of the medical follow-up
Neurodegenerative disorders with cognitive impairment
Other: Blood sampling, skin biopsy
Blood sampling, skin biopsy in the field of the medical follow-up
At risk reactive
Other: Blood sampling, skin biopsy
Blood sampling, skin biopsy in the field of the medical follow-up

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Bulding up a collection of blood samples
Time Frame: Over an 11 years period
Setting up genotype-phenotype correlations for patients with various neurodegenerative diseases
Over an 11 years period

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Collaborators

Aventis Pharmaceuticals

Investigators

  • Principal Investigator: Alexis Brice, MD, Assistance Publique - Hôpitaux de Paris, University Paris 6

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 1, 2002

Primary Completion (Actual)

December 31, 2020

Study Completion (Actual)

December 31, 2020

Study Registration Dates

First Submitted

September 6, 2005

First Submitted That Met QC Criteria

September 6, 2005

First Posted (Estimated)

September 8, 2005

Study Record Updates

Last Update Posted (Actual)

May 20, 2026

Last Update Submitted That Met QC Criteria

May 18, 2026

Last Verified

January 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RBM02-59
  • DGS2004/0525 (Registry Identifier: Reference DGS)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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