Cohort Study of Adult Patients With Down Syndrome at Risk of Developing Alzheimer's Disease (TriAL21)

NCT03901261 | Unknown

• 1 other identifier: TriAL21
• Study Type: interventional
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Down Syndrome; Alzheimer Disease

Keywords

Down Syndrome; Alzheimer Disease; Marker; Neuropsychological; Prodromal; Risk factors

Outcome Measures

Primary Outcomes (9)

• 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

Secondary Outcomes (12)

• Evaluation of neuropsychological evolution using Katz Index of Independence in Activities of Daily Living (Katz ADL) score

  2 years

• Evaluation of neuropsychological evolution using Lawton-Brody Instrumental Activities of Daily Living scale ( IADL)

  2 years

• Evaluation of neuropsychological evolution using Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) score

  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

  2 years

• Evaluation of neuropsychological evolution using Cambridge Cognition Examination score

  2 years

Study Arms (1)

Down syndrome patients

EXPERIMENTAL

Procedure: Neuro-imaging, Lumbar puncture

Interventions

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

Down syndrome patients

Eligibility Criteria

• Age: 35 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Male or female 35 years old and over ;
• Clinical diagnosis of Down syndrome ;
• Patient attending the geriatric outpatient clinic
• Patient without diagnosis of Alzheimer's disease;
• Patient covered by social welfare;
• Patient himself or legal guardian/representative willing and consenting to participate to the study by giving written informed consent;
• Patients must have a parent, or / and other reliable caregiver who agrees to accompany him/her to all visits, provide information about the patient as required by the protocol. The parent or caregiver must be a constant and reliable informant with sufficient contact with the patient to have detailed knowledge of the patient's adaptive functioning in order to be able to complete the assessments accurately.

You may not qualify if:

• Patient presenting a contraindication to MRI in particular carrier of metal implants such as pacemakers;
• Patient presenting a serious, severe or unstable pathology (left to the investigator's discretion) whose nature may interfere with the evaluation parameters;
• Patient without Alzheimer's disease diagnosis but with severe dementia;
• Participation in other clinical trials in the last 3 months prior to the study;
• Pregnant woman.

Sponsors & Collaborators

• Institut Jerome Lejeune: lead

Study Sites (1)

Institut Jérôme Lejeune

Paris, 75015, France

RECRUITING

Related Publications (15)

• 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.

  PMID: 29226868 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.

  PMID: 28664561 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.

  PMID: 2971602 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.

  PMID: 16961706 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.

  PMID: 28289920 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.

  PMID: 29159043 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.

  PMID: 20807454 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.

  PMID: 25511894 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.

  PMID: 10331678 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.

  PMID: 14044222 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.

  PMID: 5349366 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.

  PMID: 17470960 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.

  PMID: 15312062 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.

  PMID: 19679070 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.

  PMID: 27858714 BACKGROUND

MeSH Terms

Conditions

Down Syndrome; Alzheimer Disease

Interventions

Spinal Puncture

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Dementia; Brain Diseases; Central Nervous System Diseases; Tauopathies; Neurodegenerative Diseases; Neurocognitive Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

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

Central Study Contacts

Anne-Sophie REBILLAT, MD, PhD

CONTACT

+33 1 56 58 63 00; annesophie.rebillat@institutlejeune.org

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Interventional prospective monocentric, national open study with single arm

Study Record Dates

• First Submitted: February 4, 2019
• First Posted: April 3, 2019
• Study Start: April 26, 2019
• Primary Completion: March 31, 2023
• Study Completion: March 31, 2023
• Last Updated: February 8, 2023

Record last verified: 2023-02

Locations

FR (1)