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TriAL21 study is an interventional, open, one arm, prospective, national and single center study.
A total of 200 patients with Down syndrome, aged 35 years and over, without diagnosis of Alzheimer's disease will be enrolled into the study.
Participating centre is Institut Jérôme Lejeune; outpatient's clinic dedicated to treating patients with cognitive deficiencies of genetic origin including patients with Down syndrome.
The aim of the study is to describe and follow a cohort of patients with Down syndrome without diagnosis of Alzheimer's disease at inclusion, in order to identify factors influencing the age of onset of the disease.
The total study duration will be approximately 4 years.
Patients will be then followed during 10 years for routine medical follow-up. In case of Alzheimer's disease onset during this period, all data regarding diagnosis of AD will be collected for the study. Data about dementia evolution and mortality in case of AD diagnosis during the study will also be collected during this follow-up period.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Down syndrome patients | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Neuro-imaging, Lumbar puncture | Procedure | Optional Lumbar Puncture will be performed at inclusion visit Optional Neuro-Imaging (MRI (Magnetic Resonance Imaging) will be performed within 3 months after inclusion visit |
| Measure | Description | Time Frame |
|---|---|---|
| Age of onset of Alzheimer's disease | age (year) | 2 years |
| Gender that could influence the age of onset of the disease as determined by medical record review | 2 years | |
| Level of intellectual diasability that could influence the age of onset of the disease as determined by medical record review | 2 years | |
| Family history of Alzheimer's disease that could influence the age of onset of the disease as determined by medical record review | 2 years | |
| Cardio-vascular risk factors that could influence the age of onset of the disease as determined by medical record review | 2 years | |
| Down syndrome comorbidies that could influence the age of onset of the disease as determined by medical record review | 2 years | |
| Genetic's factor other than APP that could influence the age of onset of the disease as determined by medical record review | 2 years | |
| Head trauma that could influence the age of onset of the disease as determined by medical record review | 2 years | |
| Age of menopause that could influence the age of onset of the disease as determined by medical record review | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Evaluation of neuropsychological evolution using Katz Index of Independence in Activities of Daily Living (Katz ADL) score | Questionnaire about Activities of Daily Living such as bathing, toileting, continence, dressing, transferring and feeding Scoring : Independence: 1 point - Partial dependence 0.5 point - Full dependence: 0 point | 2 years |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Anne-Sophie REBILLAT, MD, PhD | Contact | +33 1 56 58 63 00 | annesophie.rebillat@institutlejeune.org |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Institut Jérôme Lejeune | Recruiting | Paris | 75015 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 29226868 | Background | Sinai A, Mokrysz C, Bernal J, Bohnen I, Bonell S, Courtenay K, Dodd K, Gazizova D, Hassiotis A, Hillier R, McBrien J, McCarthy J, Mukherji K, Naeem A, Perez-Achiaga N, Rantell K, Sharma V, Thomas D, Walker Z, Whitham S, Strydom A. Predictors of Age of Diagnosis and Survival of Alzheimer's Disease in Down Syndrome. J Alzheimers Dis. 2018;61(2):717-728. doi: 10.3233/JAD-170624. | |
| 28664561 |
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| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| D000544 | Alzheimer Disease |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| D013129 | Spinal Puncture |
| ID | Term |
|---|---|
| D001706 | Biopsy |
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
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Interventional prospective monocentric, national open study with single arm
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| Evaluation of neuropsychological evolution using Lawton-Brody Instrumental Activities of Daily Living scale ( IADL) | Questionnaire about strumental Activities of Daily Living such as ability to use telephone, responsibility for taking medication, travels independently on public transportation, ability to handle finances Scoring : 0 or 1 | 2 years |
| Evaluation of neuropsychological evolution using Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) score | Dementia Screening for Individuals with Intellectual Disabilities Questionnary is a autonomy and psychobeahavioral questionnaire to gather information from carers of people with Down's syndrome about the symptoms of dementia | 2 years |
| Evaluation of neuropsychological evolution using Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities score | Camdex-Ds. Based on an informant interview to aid the diagnosis of dementia in people with DS according to the DSM-IV et ICD criteria for dementia. | 2 years |
| Evaluation of neuropsychological evolution using Cambridge Cognition Examination score | It is part of the CAMDEX-DS. Section 2 involves the direct assessment of patient. It contains seven different subscales and has 46 items. it gives a total score of 108. Decline between assessment at Time 1 and assessment at time 2 in association with CAMDEX confirm or evoque the AD diagnosis. | 2 years |
| Evaluation of neuropsychological evolution using Cued Recall test score | It is a memory task. It consists in 12 items accompanied by a unique category cue, presented four a time in three trials. It generates two measures respectively for learning phase and delayed recall: a free recall score/12 and a total score/36 (FRS plus items recalled with cue) for the learnig phase. A free recall (FRS/12) and a total score (FRS plus items recalled with cue /12) for the delayed recall. Number of intrusions will be also recorded. | 2 years |
| Evaluation of neuropsychological evolution using Cancellation task | Measure of task accuracy (total number of correct responses, range score 0-16) and total time performance (in seconds) were included in the analyses. | 2 years |
| Evaluation of neuropsychological evolution using Leiter III assessment score | It is a nonverbal measure of intelligence & cognitive abilities. It includes four subtests whose raw scores are converted to normalised scaled scores (mean [M] = 10, standard deviation [SD] = 3). It gives an IQ standard score (M = 100; SD = 15). | 2 years |
| Identification of prodromal Alzheimer's disease markers using brain imaging | Whole brain volumetry calculation, hippocampus volume calculation, white matter lesions volumetry calculation | 2 years |
| Identification of prodromal Alzheimer's disease markers using dosage (pg/mL) of biomarkers in cerebrospinal fluid | 1-40 beta-amyloid, 1-42 beta-amyloid, tau, phosphorylated tau | 2 years |
| Number of adverse event and serious adverse events related to trial procedures | Adverse events graded 3-4-5 according to CTCAE v5.0 | 2 years |
| Evaluation of survival assessed by vital status | Date and cause of death | 2 years |
| Background |
| McCarron M, McCallion P, Reilly E, Dunne P, Carroll R, Mulryan N. A prospective 20-year longitudinal follow-up of dementia in persons with Down syndrome. J Intellect Disabil Res. 2017 Sep;61(9):843-852. doi: 10.1111/jir.12390. Epub 2017 Jun 29. |
| 2971602 | Background | Mann DM. Alzheimer's disease and Down's syndrome. Histopathology. 1988 Aug;13(2):125-37. doi: 10.1111/j.1365-2559.1988.tb02018.x. |
| 16961706 | Background | Coppus A, Evenhuis H, Verberne GJ, Visser F, van Gool P, Eikelenboom P, van Duijin C. Dementia and mortality in persons with Down's syndrome. J Intellect Disabil Res. 2006 Oct;50(Pt 10):768-77. doi: 10.1111/j.1365-2788.2006.00842.x. |
| 28289920 | Background | Lautarescu BA, Holland AJ, Zaman SH. The Early Presentation of Dementia in People with Down Syndrome: a Systematic Review of Longitudinal Studies. Neuropsychol Rev. 2017 Mar;27(1):31-45. doi: 10.1007/s11065-017-9341-9. Epub 2017 Mar 13. |
| 29159043 | Background | Neale N, Padilla C, Fonseca LM, Holland T, Zaman S. Neuroimaging and other modalities to assess Alzheimer's disease in Down syndrome. Neuroimage Clin. 2017 Nov 6;17:263-271. doi: 10.1016/j.nicl.2017.10.022. eCollection 2018. |
| 20807454 | Background | Vemuri P, Jack CR Jr. Role of structural MRI in Alzheimer's disease. Alzheimers Res Ther. 2010 Aug 31;2(4):23. doi: 10.1186/alzrt47. |
| 25511894 | Background | Lleo A, Cavedo E, Parnetti L, Vanderstichele H, Herukka SK, Andreasen N, Ghidoni R, Lewczuk P, Jeromin A, Winblad B, Tsolaki M, Mroczko B, Visser PJ, Santana I, Svenningsson P, Blennow K, Aarsland D, Molinuevo JL, Zetterberg H, Mollenhauer B. Cerebrospinal fluid biomarkers in trials for Alzheimer and Parkinson diseases. Nat Rev Neurol. 2015 Jan;11(1):41-55. doi: 10.1038/nrneurol.2014.232. Epub 2014 Dec 16. |
| 10331678 | Background | Hulstaert F, Blennow K, Ivanoiu A, Schoonderwaldt HC, Riemenschneider M, De Deyn PP, Bancher C, Cras P, Wiltfang J, Mehta PD, Iqbal K, Pottel H, Vanmechelen E, Vanderstichele H. Improved discrimination of AD patients using beta-amyloid(1-42) and tau levels in CSF. Neurology. 1999 May 12;52(8):1555-62. doi: 10.1212/wnl.52.8.1555. |
| 14044222 | Background | KATZ S, FORD AB, MOSKOWITZ RW, JACKSON BA, JAFFE MW. STUDIES OF ILLNESS IN THE AGED. THE INDEX OF ADL: A STANDARDIZED MEASURE OF BIOLOGICAL AND PSYCHOSOCIAL FUNCTION. JAMA. 1963 Sep 21;185:914-9. doi: 10.1001/jama.1963.03060120024016. No abstract available. |
| 5349366 | Background | Lawton MP, Brody EM. Assessment of older people: self-maintaining and instrumental activities of daily living. Gerontologist. 1969 Autumn;9(3):179-86. No abstract available. |
| 17470960 | Background | Deb S, Hare M, Prior L, Bhaumik S. Dementia screening questionnaire for individuals with intellectual disabilities. Br J Psychiatry. 2007 May;190:440-4. doi: 10.1192/bjp.bp.106.024984. |
| 15312062 | Background | Ball SL, Holland AJ, Huppert FA, Treppner P, Watson P, Hon J. The modified CAMDEX informant interview is a valid and reliable tool for use in the diagnosis of dementia in adults with Down's syndrome. J Intellect Disabil Res. 2004 Sep;48(Pt 6):611-20. doi: 10.1111/j.1365-2788.2004.00630.x. |
| 19679070 | Background | Kim J, Basak JM, Holtzman DM. The role of apolipoprotein E in Alzheimer's disease. Neuron. 2009 Aug 13;63(3):287-303. doi: 10.1016/j.neuron.2009.06.026. |
| 27858714 | Background | Carmona-Iragui M, Santos T, Videla S, Fernandez S, Benejam B, Videla L, Alcolea D, Blennow K, Blesa R, Lleo A, Fortea J. Feasibility of Lumbar Puncture in the Study of Cerebrospinal Fluid Biomarkers for Alzheimer's Disease in Subjects with Down Syndrome. J Alzheimers Dis. 2017;55(4):1489-1496. doi: 10.3233/JAD-160827. |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D003704 | Dementia |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D024801 | Tauopathies |
| D019636 | Neurodegenerative Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| D003933 | Diagnosis |
| D003943 | Diagnostic Techniques, Neurological |
| D011677 | Punctures |
| D013812 | Therapeutics |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |