Alzheimer's DiseaseNCT00149175
Clinical and Genetic Study of Neurodegenerative Disorders With Cognitive Impairment
An observational study of Alzheimer's Disease and Dementia, run by Institut National de la Santé Et de la Recherche Médicale, France at 12 sites in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Alzheimer's Disease, Dementia, Neurodegenerative Disorders
- What is being tested?
- Blood sampling, skin biopsy
- How many people
- 2,256 participants
- Where
- 12 sitesFrance
- Study dates
- Dec 2002to 31 Dec 2020
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 90 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: * Patients presenting with a neurodegenerative disorder * At risk patients
Who may be able to join
- 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
Who cannot join
- Pregnant women
- Minors
- Persons refusing to sign the informed consent
Trial locations and contacts
12 sites in 1 country.
12 sites in 1 country
France12 sites
CHU de la Côte de Nacre
Caen, 14000
Hôpital Sainte-Marguerite
Marseille, 13009
Hôpital Guillaume et René Laennec
Nantes, 44000
Hôpital de l'Archet
Nice, 06000
Pitié-Salpêtrière Hospital - Centre du Langage et de Neuropsychologie
Paris, 75013
Pitié-Salpêtrière Hospital - Fédération de Neurologie
Paris, 75013
Pitié-Salpêtrière Hospital
Paris, 75013
Hôpital Pontchaillou
Rennes, 35000
Hôpital Charles Nicolle
Rouen, 76000
Centre Hospitalier
Saint-Brieuc, 22000
Hôpital Bellevue
Saint-Etienne, 42000
Hôpital Civil
Strasbourg, 67000
About this study
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.
Read more
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
- Being tested
- Blood sampling, skin biopsy
- Keywords
- Alzheimer's disease, Dementia, Phenotype-genotype correlations, Candidate genes, Related disorders
- Medical subject headings
- Alzheimer Disease, Dementia, Neurodegenerative Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampling, skin biopsyOther
Blood sampling, skin biopsy in the field of the medical follow-up
| Study group | Role | What they receive |
|---|---|---|
| Neurodegenerative disorders with cognitive impairment | Not described Receives: Other: Blood sampling, skin biopsy | |
| Control | Not described Receives: Other: Blood sampling, skin biopsy | |
| At risk reactive | Not described Receives: Other: Blood sampling, skin biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Bulding up a collection of blood samples
Setting up genotype-phenotype correlations for patients with various neurodegenerative diseases
Measured: Over an 11 years period
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Sep 2005 (estimated)
- Study startDec 2002
- Primary completion31 Dec 2020
- Study completion31 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Alzheimer's DiseaseStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 2,256 participants (actual)
Sponsor and investigators
- Sponsor type
- Other government
- Collaborators
- Aventis Pharmaceuticals
- Responsible party
- Sponsor
- Investigators
- Alexis Brice, MD, Principal investigator, Assistance Publique - Hôpitaux de Paris, University Paris 6
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00149175
- Sponsor's protocol ID
- RBM02-59
- Other IDs
- DGS2004/0525
- Status last verified
- Jan 2025
- First submitted
- 6 Sep 2005
- Last updated
- 20 May 2026
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 17071924van 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.
PubMed 17345602Baba 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.
PubMed 17318302Le 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.
PubMed 17436289Guedj 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.
PubMed 17664410