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

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ClinicalTrials.gov Identifier: NCT03901261
Recruitment Status : Not yet recruiting
First Posted : April 3, 2019
Last Update Posted : April 9, 2019
Sponsor:
Information provided by (Responsible Party):
Institut Jerome Lejeune

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.


Condition or disease Intervention/treatment Phase
Down Syndrome Alzheimer Disease Procedure: Neuro-imaging, Lumbar puncture Not Applicable

Detailed Description:

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.

  • Inclusion period : 2 years
  • Follow-up period per patient : 2 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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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 200 participants
Intervention Model: Single Group Assignment
Intervention Model Description: Interventional prospective monocentric, national open study with single arm
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Cohort Study of Adult Patients With Down Syndrome at Risk of Developing Alzheimer's Disease
Estimated Study Start Date : March 29, 2019
Estimated Primary Completion Date : March 31, 2023
Estimated Study Completion Date : March 31, 2023


Arm Intervention/treatment
Experimental: Down syndrome patients Procedure: Neuro-imaging, Lumbar puncture
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




Primary Outcome Measures :
  1. Age of onset of Alzheimer's disease [ Time Frame: 2 years ]
    age (year)

  2. Gender that could influence the age of onset of the disease as determined by medical record review [ Time Frame: 2 years ]
  3. Level of intellectual diasability that could influence the age of onset of the disease as determined by medical record review [ Time Frame: 2 years ]
  4. Family history of Alzheimer's disease that could influence the age of onset of the disease as determined by medical record review [ Time Frame: 2 years ]
  5. Cardio-vascular risk factors that could influence the age of onset of the disease as determined by medical record review [ Time Frame: 2 years ]
  6. Down syndrome comorbidies that could influence the age of onset of the disease as determined by medical record review [ Time Frame: 2 years ]
  7. Genetic's factor other than APP that could influence the age of onset of the disease as determined by medical record review [ Time Frame: 2 years ]
  8. Head trauma that could influence the age of onset of the disease as determined by medical record review [ Time Frame: 2 years ]
  9. Age of menopause that could influence the age of onset of the disease as determined by medical record review [ Time Frame: 2 years ]

Secondary Outcome Measures :
  1. Evaluation of neuropsychological evolution using Katz Index of Independence in Activities of Daily Living (Katz ADL) score [ Time Frame: 2 years ]
    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. Evaluation of neuropsychological evolution using Lawton-Brody Instrumental Activities of Daily Living scale ( IADL) [ Time Frame: 2 years ]
    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

  3. Evaluation of neuropsychological evolution using Dementia Screening Questionnaire for Individuals with Intellectual Disabilities (DSQIID) score [ Time Frame: 2 years ]
    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

  4. Evaluation of neuropsychological evolution using Cambridge Examination for Mental Disorders of Older People with Down's Syndrome and Others with Intellectual Disabilities score [ Time Frame: 2 years ]
    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.

  5. Evaluation of neuropsychological evolution using Cambridge Cognition Examination score [ Time Frame: 2 years ]
    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.

  6. Evaluation of neuropsychological evolution using Cued Recall test score [ Time Frame: 2 years ]
    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.

  7. Evaluation of neuropsychological evolution using Cancellation task [ Time Frame: 2 years ]
    Measure of task accuracy (total number of correct responses, range score 0-16) and total time performance (in seconds) were included in the analyses.

  8. Evaluation of neuropsychological evolution using Leiter III assessment score [ Time Frame: 2 years ]
    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).

  9. Identification of prodromal Alzheimer's disease markers using brain imaging [ Time Frame: 2 years ]
    Whole brain volumetry calculation, hippocampus volume calculation, white matter lesions volumetry calculation

  10. Identification of prodromal Alzheimer's disease markers using dosage (pg/mL) of biomarkers in cerebrospinal fluid [ Time Frame: 2 years ]
    1-40 beta-amyloid, 1-42 beta-amyloid, tau, phosphorylated tau

  11. Number of adverse event and serious adverse events related to trial procedures [ Time Frame: 2 years ]
    Adverse events graded 3-4-5 according to CTCAE v5.0

  12. Evaluation of survival assessed by vital status [ Time Frame: 2 years ]
    Date and cause of death



Information from the National Library of Medicine

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Ages Eligible for Study:   35 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03901261


Contacts
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Contact: Anne-Sophie REBILLAT, MD, PhD +33 1 56 58 63 00 annesophie.rebillat@institutlejeune.org

Locations
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France
Institut Jérôme Lejeune Not yet recruiting
Paris, France, 75015
Contact: Anne-Sophie REBILLAT, MD, PhD    +33 1 56 58 63 00    annesophie.rebillat@institutlejeune.org   
Principal Investigator: Anne-Sophie REBILLAT, MD         
Sub-Investigator: Anne HIANCE-DELAHAYE, MD         
Sponsors and Collaborators
Institut Jerome Lejeune

Publications:

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Responsible Party: Institut Jerome Lejeune
ClinicalTrials.gov Identifier: NCT03901261     History of Changes
Other Study ID Numbers: TriAL21
First Posted: April 3, 2019    Key Record Dates
Last Update Posted: April 9, 2019
Last Verified: February 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Institut Jerome Lejeune:
Down Syndrome
Alzheimer Disease
Marker
Neuropsychological
Prodromal
Risk factors

Additional relevant MeSH terms:
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Syndrome
Alzheimer Disease
Down Syndrome
Disease
Pathologic Processes
Dementia
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Tauopathies
Neurodegenerative Diseases
Neurocognitive Disorders
Mental Disorders
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn