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Down Syndrome (Trisomy 21)ENDINCT07047963

Neuropsychological Evaluation in Intellectual Disability (ENDI)

An observational study of Down Syndrome (Trisomy 21) and Neuropsychology, run by Central Hospital, Nancy, France at 1 site in France.

Not yet recruiting

Opening soon. The study is approved but enrolment has not started yet. Sites may already take enquiries.

Sites and contacts
Official record
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Trial summary

The goal of this observational study is to evaluate the acceptability ofpatients with trisomy 21 (T21) to perform the full battery of ENDI neurospychological tests and each of the subsets. Read more about this study

Who is it for?
Ages 25 to 65 yearsHealthy volunteers can take part
What is being tested?
ENDI (Neuropsychological Evaluation in Intellectual Disability)
How many people
40 participants
Where
1 siteFrance
Study dates
1 Jul 2025to 1 Nov 2026
Phase
Observational
Are there results?
Not yet: the study is under way

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 25 to 65 years
  • All sexes
  • Healthy volunteers accepted
  • Adult, Older adult

Study population: Normotypical volunteers, patients with intellectual disability, and Trisomie 21 patients (T21) will be recruited by psychologists during a consultation in the Geriatrics Department of the University Hospital of Nancy, either through the Memory Resource and Research Center outpatient clinic or the day hospital. Volunteers and patients are generally referred by their general practitioner or another hospital department.

Who may be able to join

  • Preliminary phase:
  • The inclusion criteria for the group of people with intellectual disabilities are as follows:
  • Participant who has received full information on the organization of the research and has not objected to his or her participation and to the use of his or her data.
  • Legal guardian of the participant, if applicable, who has received full information on the organization of the research and has not objected to participation and use of his/her data.
  • Age at inclusion: ≥ 25 and ≤ 65 years
  • Notion of intellectual disability in medical records
Show all 30Show fewer
  • Access to the oral language of the participant with an intellectual disability: the subject's speech must be comprehensible to the evaluator and the subject must be able to understand simple statements. It is not possible to use an oral comprehension test (e.g. Token test by Renzi \& Vignolo, 1962), as the norms achieved in healthy subjects would exclude almost all patients with intellectual disabilities, who have more limited language skills.
  • Enrolled in or benefiting from a social security scheme.
  • The inclusion criteria for the normotypic group are as follows:
  • Participant having received full information on the organization of the research and not having objected to his or her participation and to the use of his or her data.
  • Age at inclusion: ≥ 25 and ≤ 65 years
  • Affiliation with a social security scheme or beneficiary of such a scheme
  • Main phase:
  • Participant with T21 who has received full information on the organization of the research and has not objected to participation and use of his/her data
  • Legal guardian of the participant with T21, where applicable, who has received full information on the organization of the research and has not objected to his or her participation and the use of his or her data.
  • Person with trisomy 21
  • Age at inclusion: ≥ 25 and ≤ 65 years
  • Access to the oral language of the participant with T21: the subject's speech must be comprehensible to the evaluator and the subject must be able to understand simple statements. It is not possible to use an oral comprehension test (e.g. Token test by Renzi \& Vignolo, 1962), as the norms achieved in healthy subjects would exclude almost all patients with intellectual disabilities, who have more limited language skills.
  • Membership of a social security scheme or beneficiary of such a scheme
  • Exclusion Criteria for both phases of the study are as follows:
  • Disabling motor and/or sensory impairments preventing completion of the tests
  • Insufficient command of the French language to complete the tests
  • Severe general medical condition or alcoholism (habitual consumption of 3 drinks/day or history of alcohol withdrawal)
  • History of stroke, severe head trauma, or cancer
  • Change in long-term medication within 8 weeks prior to evaluation
  • Refusal to participate by the subject and/or legal representative
  • Individuals referred to in Articles L.1121-5 to L.1121-7 of the French Public Health Code:
  • Pregnant women, women in labor, or breastfeeding mothers
  • Individuals deprived of liberty by judicial or administrative decision
  • Individuals undergoing psychiatric treatment under Article L.3213-1 of the French Public Health Code

Who cannot join

None listed.

Trial locations and contacts

1 site in 1 country. Contact the study team or a site near you to ask about taking part.

Amélie COQUELET, Psychologist contact

+33 3 83 15 79 64

a.coquelet@chru-nancy.fr

France1 site

  • CHRU de Nancy

    Vandœuvre-lès-Nancy, Grand Est, 54511

    Amélie COQUELET, Psychologist, +33 3 83 15 79 64, a.coquelet@chru-nancy.fr

    Amélie COQUELET, Psychologist

Other trials in France

About this study

Official title: Neuropsychological Evaluation in Intellectual Disability

The goal of this observational study is to evaluate the acceptability ofpatients with trisomy 21 (T21) to perform the full battery of ENDI neurospychological tests and each of the subsets.

In this study, three types of population will be recruted : normotypic volunteers, patients with Intellectual Disability and patients T21carriers.

Read more

This study is separated into 2 phases :

  • A the preliminary phase : this phase will be used to evaluate subtest design, ergonomics and understanding of instructions, and to identify any malfunctions. The observations gathered will enable the principal investigator to refine the digital design of the battery in collaboration with the publishing company. In this phase, normotypical volunteers and patients with intellectual disabilities will be recruted to perform ENDI test battery.
  • A main phase : this phase will enable to answer to the main objective. in this phase, patients with Trisomy 21 aged between 25 and 65 will be recruted to perform ENDI test battery.
Read the detailed description

Trisomy 21 is a genetic disease resulting from a chromosomal anomaly, due to a triplication, bringing the total number of chromosomes to 47. In addition to physical characteristics, adults with Trisomy 21 (T21) generally have an intelligence quotient (IQ) score suggesting mild (IQ: 50-69) to moderate (IQ: 35-49) intellectual disability (ID), and adaptive functional impairments corresponding to this level of ID severity. Progress in medical and social care has led to a significant increase in life expectancy for trisomy 21 patients. De Graaf, Buckley \& Skotko (2021) estimate the number of trisomy 21 patients in France at around 35,000, 42% of whom are aged 40 or over. According to Asselin (2005), by 2030, the number of people with intellectual disabilities (ID) aged over 60 should have doubled.

This raises questions about the ageing of this population, all the more so as it is likely to occur earlier, due to reduced neuronal reserve. For example, signs of aging appear 10 years earlier in people with ID, at around age 55. Moreover, this aging process is said to be accelerated Normal cognitive aging in trisomy 21 patients is poorly characterized in the literature; similarly, there is no consensus regarding prodromal signs of Alzheimer's Disease (AD) in T21. However, the presence of the supernumerary chromosome containing the APP (Amyloid Precursor Protein) gene increases the risk of developing AD: 20% of trisomy 21 patients aged 45 and over develop a major neurocognitive disorder (MNCD), and over 50% by the age of 55. T21 is now considered a genetic form of AD, similar to an autosomal dominant form. Identifying AD in this population is therefore a real challenge, especially as AD is identified as the cause of 70% of deaths in trisomy 21 patients.

In cognitive terms, the precursor signs of AD are impairment of memory and temporo-spatial orientation, followed by impairment of praxis, language and visuo-spatial skills. Other authors suggest an early decline in executive functions. More recently, Startin et al. (2019) show that memory and attention tests are more sensitive in detecting prodromal forms. Establishing a diagnosis of neurodegenerative disease in trisomy 21 patients is important for at least 3 reasons. People with intellectual disabilities are often treated with neuroleptics, whose use is not recommended in AD. It also contributes to the adaptation of medical and social care, as ageing disabled people with AD will experience less frequent difficulties, including behavioural changes. According to the Edinburgh Principles, it is important to "ensure that appropriate diagnostic, assessment and intervention resources and services are available to meet the individual needs and promote the healthy ageing of people with intellectual disabilities and cognitive impairment". Finally, at a time when promising pharmacological treatments for AD are emerging for neurotypical subjects, it seems crucial that trisomy 21 patients, who are more at risk of AD, should be diagnosed as early as possible so that they can ultimately benefit from these new therapies. Neuropsychological assessment plays a crucial role in the diagnostic process, as brain imaging and lumbar puncture for AD biomarkers in cerebrospinal fluid are not always feasible.

However, a number of problems remain:

  • Neuropsychological assessment is conditioned by the severity of the intellectual disability and the level of literacy/numeracy.
  • Few adapted tests are available in French. Tests used in the general population are not transposable, and those based on child assessment batteries are infantilizing.
  • Few tests incorporate the evolution of digital technologies, which make it possible to offer more playful interfaces with better temporal control.
  • Few tests allow for longitudinal follow-up (no parallel versions, no longitudinal standards), whereas current recommendations call for systematic annual follow-up from the age of 30. In this context, it is essential to develop new cognitive tools integrating digital technologies and innovative approaches, which are indispensable for accurate diagnosis and monitoring of cognitive disorders in trisomy 21 patients. It was with this in mind that the ENDI (Evaluation Neuropsychologique dans la Déficience Intellectuelle) battery was designed. This neuropsychological battery comprises 15 subtests designed to assess language, memory, attention and executive skills. By analyzing changes in trisomy 21 patients performance over time, the neuropsychologist can detect early signs of AD. A pre-test of the ENDI battery is planned to evaluate subtest design, ergonomics and comprehension of instructions, and to identify any malfunctions. The observations gathered will enable the principal investigator to refine the digital design of the battery in collaboration with the publishing company.
Being tested
ENDI (Neuropsychological Evaluation in Intellectual Disability)
Keywords
Down Syndrome (Trisomy 21), ENDI, Trisomy 21, neuropsychology, ENDI tests battery
Medical subject headings
Down Syndrome, Alzheimer Disease

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • ENDI (Neuropsychological Evaluation in Intellectual Disability)Diagnostic test

    Also called ENDI

    This neuropsychological battery comprises 15 subtests designed to assess language, memory, attention and executive skills. By analyzing changes in Trisomy 21 patients performance over time, the neuropsychologist can detect early signs of Alzheimer's disease.

Study groups in NCT07047963
Study groupRoleWhat they receive
Trisomy 21 patientsTrisomy 21 patients recruted on Main Phase will perform the ENDI tests in order to assess the acceptability of the subtests (individually) and the full neuropsychological battery
Receives: Diagnostic Test: ENDI (Neuropsychological Evaluation in Intellectual Disability)
Patients with Intellectual DisabilitiesPatients with Intellectual Disabilities recruted on Preliminary Phase will be will carry out the ENDI tests in order to evaluate subtest design, ergonomics, understanding of instructions and identify any malfunctions. The observations gathered will enable the principal investigator to refine the digital design of the battery in collaboration with the publishing company.
Receives: Diagnostic Test: ENDI (Neuropsychological Evaluation in Intellectual Disability)
Normotypical volunteersNormotypical volunteers recruted on Preliminary Phase will be will carry out the ENDI tests in order to evaluate subtest design, ergonomics, understanding of instructions and identify any malfunctions. The observations gathered will enable the principal investigator to refine the digital design of the battery in collaboration with the publishing company.
Receives: Diagnostic Test: ENDI (Neuropsychological Evaluation in Intellectual Disability)

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Acceptability of individual subtests and the complete test battery

    Acceptability will be estimated by The average completion time for the complete ENDI battery

    Measured: Through the study (completion of the full test battery), an average of 45 min

  2. Acceptability of individual subtests and the complete test battery

    Acceptability will be estimated by the Average completion time for each subtest of the ENDI battery

    Measured: Through the study (completion of the full test battery), an average of 45 min

  3. Acceptability of individual subtests and the complete test battery

    Acceptability will be estimated by the Percentage of complete completion of each ENDI subtest

    Measured: Through the study (completion of the full test battery), an average of 45 min

  4. Acceptability of individual subtests and the complete test battery

    Acceptability will be estimated by the Percentage of subjects having completed all ENDI battery subtests

    Measured: Through the study (completion of the full test battery), an average of 45 min

Secondary outcomes (4)

  1. The convergent validity of ENDI tests

    Correlation coefficient between ENDI scores and scores on DSQIID-F questionnaire. Scoring scale for the DSQIID-F questionnaire is from 0 to 53

    Measured: Through the study, an average of 16 months

  2. The convergent validity of ENDI tests

    Correlation coefficient between ENDI scores and scores on BPSD-DS questionnaire . The Scoring scale for BPSD-DS questionnaire is : for each dimension, frequency is rated from 0 to 4 and severity from 0 to 3 .

    Measured: Through the study, an average of 16 months

  3. The convergent validity of ENDI tests

    Correlation coefficient between ENDI scores and score on ISDC questionnaire. Scoring scales for ISDC questionnaire is for each dimension, frequency is scored from 0 to 4, severity from 0 to 3 and impact from 0 to 5

    Measured: Through the study, an average of 16 months

  4. The convergent validity of ENDI tests

    Correlation coefficient between ENDI scores and scores of CAMCOG II questionnaire.

    The Scoring scale for CAMCOG II questionnaire is from 0 to 106, the lower the score, the greater the impairment.

    Measured: Through the study, an average of 16 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted2 Jul 2025
  2. Study start1 Jul 2025 (estimated)
  3. Primary completion31 Aug 2026 (estimated)
  4. Study completion1 Nov 2026 (estimated)

Resources

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
Other
Time perspective
Prospective
Enrolment
40 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT07047963
Sponsor's protocol ID
2024- A01565- 42
Acronym
ENDI
Status last verified
Jun 2025
First submitted
22 May 2025
Last updated
2 Jul 2025
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No

Publications

  • Hithersay R, Startin CM, Hamburg S, Mok KY, Hardy J, Fisher EMC, Tybulewicz VLJ, Nizetic D, Strydom A. Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years. JAMA Neurol. 2019 Feb 1;76(2):152-160. doi: 10.1001/jamaneurol.2018.3616.

    PubMed 30452522

  • Coquelet A, Besozzi A, Roussel M, Lemetayer F. Evaluation neuropsychologique des adultes porteurs d'une trisomie 21 en Consultation memoire : quels outils ? Une revue de la litterature. Geriatr Psychol Neuropsychiatr Vieil. 2022 Mar 1;20(1):79-95. doi: 10.1684/pnv.2022.1025. French.

    PubMed 35652846

  • Coppus AW, Fekkes D, Verhoeven WM, Tuinier S, Egger JI, van Duijn CM. Plasma amino acids and neopterin in healthy persons with Down's syndrome. J Neural Transm (Vienna). 2007;114(8):1041-5. doi: 10.1007/s00702-007-0656-1. Epub 2007 Mar 31.

    PubMed 17401539

  • Carmeli E, Imam B, Bachar A, Merrick J. Inflammation and oxidative stress as biomarkers of premature aging in persons with intellectual disability. Res Dev Disabil. 2012 Mar-Apr;33(2):369-75. doi: 10.1016/j.ridd.2011.10.002. Epub 2011 Nov 25.

    PubMed 22119683

  • Burt DB, Aylward EH. Test battery for the diagnosis of dementia in individuals with intellectual disability. Working Group for the Establishment of Criteria for the Diagnosis of Dementia in Individuals with Intellectual Disability. J Intellect Disabil Res. 2000 Apr;44 ( Pt 2):175-80. doi: 10.1046/j.1365-2788.2000.00264.x.

    PubMed 10898382

  • Devenny DA, Zimmerli EJ, Kittler P, Krinsky-McHale SJ. Cued recall in early-stage dementia in adults with Down's syndrome. J Intellect Disabil Res. 2002 Sep;46(Pt 6):472-83. doi: 10.1046/j.1365-2788.2002.00417.x.

    PubMed 12354318

  • Startin CM, Hamburg S, Hithersay R, Al-Janabi T, Mok KY, Hardy J; LonDownS Consortium; Strydom A. Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome. Alzheimers Dement. 2019 Feb;15(2):245-257. doi: 10.1016/j.jalz.2018.08.009. Epub 2018 Nov 28.

    PubMed 30503169

  • Zis P, Strydom A. Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome. Free Radic Biol Med. 2018 Jan;114:3-9. doi: 10.1016/j.freeradbiomed.2017.08.024. Epub 2017 Sep 1.

    PubMed 28870521

  • 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.

    PubMed 28664561

  • Lott IT, Head E. Down syndrome and Alzheimer's disease: a link between development and aging. Ment Retard Dev Disabil Res Rev. 2001;7(3):172-8. doi: 10.1002/mrdd.1025.

    PubMed 11553933

  • 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.

    PubMed 28289920

  • Hartley D, Blumenthal T, Carrillo M, DiPaolo G, Esralew L, Gardiner K, Granholm AC, Iqbal K, Krams M, Lemere C, Lott I, Mobley W, Ness S, Nixon R, Potter H, Reeves R, Sabbagh M, Silverman W, Tycko B, Whitten M, Wisniewski T. Down syndrome and Alzheimer's disease: Common pathways, common goals. Alzheimers Dement. 2015 Jun;11(6):700-9. doi: 10.1016/j.jalz.2014.10.007. Epub 2014 Dec 12.

    PubMed 25510383

  • Godefroy O, Martinaud O, Verny M, Mosca C, Lenoir H, Bretault E, Roussel M. The dysexecutive syndrome of Alzheimer's disease: the GREFEX study. J Alzheimers Dis. 2014;42(4):1203-8. doi: 10.3233/JAD-140585.

    PubMed 25024318

  • Fortea J, Vilaplana E, Carmona-Iragui M, Benejam B, Videla L, Barroeta I, Fernandez S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Gimenez S, Gonzalez-Ortiz S, Munoz L, Estelles T, Illan-Gala I, Belbin O, Camacho V, Wilson LR, Annus T, Osorio RS, Videla S, Lehmann S, Holland AJ, Alcolea D, Clarimon J, Zaman SH, Blesa R, Lleo A. Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study. Lancet. 2020 Jun 27;395(10242):1988-1997. doi: 10.1016/S0140-6736(20)30689-9.

    PubMed 32593336

  • Rebillat AS, Hiance-Delahaye A, Falquero S, Radice G, Sacco S. The French translation of the dementia screening questionnaire for individuals with intellectual disabilities is a sensitive tool for screening for dementia in people with Down Syndrome. Res Dev Disabil. 2021 Nov;118:104068. doi: 10.1016/j.ridd.2021.104068. Epub 2021 Aug 28.

    PubMed 34467872

Questions about this trial

What is this clinical trial studying?

An observational study of Down Syndrome (Trisomy 21) and Neuropsychology, run by Central Hospital, Nancy, France at 1 site in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 30 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: opening soon, as of the sponsor's last update on 2 Jul 2025. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Amélie COQUELET, Psychologist (+33 3 83 15 79 64, a.coquelet@chru-nancy.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Acceptability of individual subtests and the complete test battery (time frame: Through the study (completion of the full test battery), an average of 45 min). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT07047963, which also lists 21 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2025.

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