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Down SyndromeTRC-DSNCT04165109

Trial-Ready Cohort-Down Syndrome (TRC-DS)

An observational study of Down Syndrome and Alzheimer Disease, run by University of Southern California at 22 sites in 5 countries.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial summary

The purpose of the Trial-Ready Cohort - Down Syndrome (TRC-DS) is to enroll 120 healthy adults with Down syndrome (DS), between the ages of 25-55, into a trial ready cohort (TRC), and up to 550 participants in total including co-enrolled in the Alzheimer Biomarkers Consortium - Down Syndrome (ABC-DS) study. Read more about this study

Who is it for?
Ages 25 to 55 years
Conditions the study is for
Down Syndrome, Alzheimer Disease, Dementia
How many people
550 participants
Where
22 sitesin 5 countries
Study dates
7 Jun 2021to 31 Dec 2027
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 55 years
  • All sexes
  • No healthy volunteers
  • Adult

Study population: 120 non-demented adults with Down syndrome and up to 550 participants in total including co-enrollment the Alzheimer Biomarkers Consortium - Down Syndrome (ABC-DS)

Who may be able to join

  • Diagnosis of DS (including trisomy 21, mosaic trisomy 21, Robertsonian translocation trisomy 21 or partial trisomy 21) (as confirmed by genetic testing or medical record review)
  • Provision of signed and dated informed consent form; this includes adults with DS who can provide consent, or for whom an LAR provides consent on behalf of the individual to participate. Adults with DS who cannot consent must sign and date an assent accompanied with a signed and dated consent by legally authorized representative (LAR).
  • Stated availability and willingness to comply with all study procedures and availability for the duration of the study or until referred to a clinical trial
  • Male or female, aged 25-55 inclusive
  • In good general health as evidenced by medical history with no diagnosis of dementia
  • Permitted CNS-active medications, stable in dose for at least 4 weeks or longer. If new medications have been started, medical monitoring team will review on case by case basis to recommend timing of baseline cognitive testing
Show all 11Show fewer
  • Adequate visual and auditory acuity to allow neuropsychological testing
  • Mental Age of 4 years or greater (based upon the Kaufman Brief Intelligence Test, Second Edition, KBIT-2, verbal age equivalent, or based upon medical records)
  • Ability to complete KBIT-2 with IQ equal to or greater than 40
  • Must speak English or Spanish fluently
  • Must have a reliable Study Partner (may be caregiver, sibling, parent) who is capable of providing correct information about the participant's clinical symptoms and history

Who cannot join

  • Any significant disease or unstable medical condition that could affect participation (i.e., unstable psychiatric disease, unstable cardiac problems, chronic renal failure, chronic hepatic disease, severe pulmonary disease)
  • Participants in whom magnetic resonance imaging (MRI) is contraindicated including, but not limited to, those with a non-compatible pacemaker, presence of MRI-incompatible metallic fragments near the eyes or spinal cord, or cochlear implant (Dental fillings do not present a risk for MRI)
  • Participants unable to complete MRI procedure
  • History, within the last 5 years of a primary or recurrent malignant disease with the exception of non-melanoma skin cancers, resected cutaneous squamous cell carcinoma in situ, basal cell carcinoma, cervical carcinoma in situ, or in situ prostate cancer with normal prostate-specific antigen post-treatment
  • Clinically significant abnormalities in B12 or TFTs that might interfere with the study. A low B12 is exclusionary, unless follow-up labs (homocysteine (HC) and methylmalonic acid (MMA)) indicate that it is not physiologically significant. A high TSH is exclusionary unless follow up T3/T4 levels indicate that it is not physiologically significant.
  • Clinically significant abnormalities in screening laboratories
Show all 9Show fewer
  • For participants undergoing CSF collection: a current blood clotting or bleeding disorder, or significantly abnormal PT or PTT at screening or if on anti-coagulation therapy (e.g. warfarin)
  • Concurrent participation in a clinical trial for an investigational product or concurrent participation in longitudinal study with overlapping outcome measures/procedures is prohibited with the exception of ABC-DS co-enrollment or as approved by project director
  • Participants whom the investigator deems to be otherwise ineligible. The Investigators should consult with the Coordinating Center on any issues that may disqualify the participant from participation in future clinical trials to determine whether enrollment into TRC-DS would be appropriate

Trial locations and contacts

22 sites in 5 countries. Contact the study team or a site near you to ask about taking part.

ATRI Recruitment Team contact

213-821-0569

DS-participate@usc.edu

22 sites in 5 countries

United States18 sites, 18 recruiting

  • Linda Crnic Institute for Down Syndrome, University of Colorado

    Aurora, Colorado, 80045

    Joaquin Espinosa, PhD

    Recruiting

  • Case Western Reserve University

    Beachwood, Ohio, 44122

    Rajeet Shrestha, MD

    Recruiting

  • Massachusetts General Hospital, Co-Enrolling through ABC-DS Only

    Boston, Massachusetts, 02114

    Herminia Herminia Diana Rosas

    Recruiting

  • University of Cincinnati

    Cincinnati, Ohio, 45219

    Russell Sawyer, MD

    Not yet recruiting

  • Indiana University

    Indianapolis, Indiana, 46202

    Jill Fodstad, PhD

    Recruiting

  • University of Kansas Medical Center

    Kansas City, Kansas, 66160

    Lauren T Ptomey, PhD, RD, LD

    Recruiting

  • Cleveland Clinic, Lou Ruvo Center for Brain Health, Las Vegas

    Las Vegas, Nevada, 89106

    Charles Bernick, MD

    Not yet recruiting

  • University of Kentucky, Co-Enrolling through ABC-DS Only

    Lexington, Kentucky, 40504

    Frederick Schmitt, PhD

    Recruiting

  • University of Wisconsin - Madison, Waisman Center, Co-Enrolling through ABC-DS Only

    Madison, Wisconsin, 53705

    Bradley Christian

    Recruiting

  • Vanderbilt University Medical Center Center for Cognitive Medicine

    Nashville, Tennessee, 37212

    Paul Newhouse, MD

    Recruiting

  • University of California, Irvine School of Medicine, Co-Enrolling through ABC-DS Only

    Orange, California, 92868

    Ira Lott

    Recruiting

  • Advocate Medical Group Adult Down Syndrome Center

    Park Ridge, Illinois, 60068

    Brian Chicoine, MD

    Not yet recruiting

  • Barrow Neurological Institute

    Phoenix, Arizona, 85013

    Anna Burke, MD

    Recruiting

  • University of Pittsburgh, Co-Enrolling through ABC-DS Only

    Pittsburgh, Pennsylvania, 15213

    Benjamin Handen

    Recruiting

  • Oregon Health & Science University

    Portland, Oregon, 97239

    Aimee Pierce, MD

    Not yet recruiting

  • University of Texas Health San Antonio, Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases

    San Antonio, Texas, 78229

    Sarah Savoia, PAC-C

    Recruiting

  • Washington University, St. Louis

    St Louis, Missouri, 63108

    Beau Ances, MD, PhD

    Recruiting

  • New York State Institute for Basic Research in Developmental Disabilities (SIBRDD), Co-Enrolling through ABC-DS Only

    Staten Island, New York, 10314

    Sharon Krinsky-McHale, PhD

    Recruiting

Other trials in United States

France1 site, 1 recruiting

  • Institut Jerome Lejeune

    Paris, France, 75018

    Anne-Sophie Rebillat, MD PhD

    Recruiting

Other trials in France

Ireland1 site, 1 recruiting

  • Institute of Memory & Cognition, Tallaght University Hospital

    Dublin, Ireland, 24

    Sean Kennelly, MD PhD

    Recruiting

Other trials in Ireland

Spain1 site, 1 recruiting

  • Sant Pau Biomedical Research Institute (IIB Sant Pau)

    Barcelona, 08041

    Juan Fortea, MD, PhD

    Recruiting

Other trials in Spain

United Kingdom1 site, 1 recruiting

  • University of Cambridge, Co-Enrolling through ABC-DS Only

    Cambridge, CB2 1TN

    Shahid Zaman, MD, PhD

    Recruiting

Other trials in United Kingdom

About this study

Official title: Alzheimer's Clinical Trial Consortium for Down Syndrome (ACTC-DS) Trial-Ready Cohort - Down Syndrome (TRC-DS)

The purpose of the Trial-Ready Cohort - Down Syndrome (TRC-DS) is to enroll 120 healthy adults with Down syndrome (DS), between the ages of 25-55, into a trial ready cohort (TRC), and up to 550 participants in total including co-enrolled in the Alzheimer Biomarkers Consortium - Down Syndrome (ABC-DS) study. Participants enrolled in the TRC-DS will undergo longitudinal cognitive and clinical assessment, genetic and biomarker testing, as well as imaging and biospecimen collection. Using these outcome measures, researchers will analyze the relationships between cognitive measures and biomarkers of Alzheimer's disease (AD) to identify endpoints for AD clinical trials in DS that best reflect disease progression.

To learn more about the study and participating sites, visit our study website at: https://www.trcds.org/.

TRC-DS is collaborating with the Alzheimer's Disease Biomarker Consortium-Down Syndrome (ABC-DS) to allow study participants to be concurrently enrolled in both ABC-DS and TRC-DS, referred to as "co-enrollment". ABC-DS is a longitudinal, observational research study that is overseen at University of Pittsburgh Coordinating Center. ABC-DS participants who express interest in potentially joining a clinical trial in the future and who meet TRC-DS eligibility criteria, may choose to co-enroll in TRC-DS at an ABC-DS Site. Co-enrolled participants will adhere to the ABC-DS protocol and schedule of activities, but agree to share their data with the TRC-DS team and to receive invitations for future participation in clinical trials. Fore more information on ABC-DS please visit https://www.nia.nih.gov/research/abc-ds or http://abcds.pitt.edu/.

Keywords
Trial-Ready Cohort, Observational, Alzheimer's, Prevention, Down Syndrome
Medical subject headings
Down Syndrome, Alzheimer Disease, Dementia

What participants receive

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

Study groups in NCT04165109
Study groupRoleWhat they receive
Trial Ready CohortNon-demented adults with Down syndrome (DS)

What is being measured

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

  1. Enrollment of participants into the Trial-Ready Cohort in DS (TRC-DS).

    The primary aim of the TRC-DS is enrollment of 120 participants into the trial ready cohort, with up to 550 participants in total including co-enrollment with the Alzheimer Biomarkers Consortium - Down Syndrome (ABC-DS) study, to support future referral and enrollment into primary Alzheimer's disease (AD) prevention trials for adults with DS.

    Measured: 5 years

Secondary outcomes (10)

  1. Change in cognition as measured by the Modified Cued Recall Test

    The Cued Recall Test is modified from a version developed for adults from the typical population. Twelve items are presented for learning, 4 at a time, with each item accompanied by a unique category cue. The testing phase consists of 3 trials. Each trial begins with free recall of the test items; following free recall, a category cue is provided for those items not spontaneously recalled. Two scores are generated from the test, a Free Recall Score and a Total Score (Free Recall plus items recalled when the category cue is provided). A cut-off of < 23 on the Total Score resulted in a sensitivity of 91% and a specificity of 84% when individuals with DS and a diagnosis of dementia were compared to their healthy peers without dementia.

    Measured: Baseline and Month 48 or until enrollment into a clinical trial

  2. Change in behavior as measured by the Neuropsychiatric Inventory (NPI)

    The Neuropsychiatric Inventory (NPI) is a well-validated, reliable, multi-item instrument to assess psychopathology in AD based on an interview with a caregiver or qualified study partner. It evaluates both the frequency and severity of 12 neuropsychiatric features including delusions, hallucinations, agitation/aggression, depression/dysphoria, anxiety, elation/euphoria, apathy/indifference, disinhibition, irritability/lability, aberrant motor behavior, sleep, and appetite and eating disorders. A higher NPI score means that the participant is displaying more behavioral symptoms. The minimum score is 0 and the maximum is 144. A score of 0-20 is mild, 20-50 moderate and greater than 50 means significant behavioral symptoms.

    Measured: Screening and Month 48, or until enrollment into a clinical trial

  3. Change in cognition as measured by the Down Syndrome Mental Status Exam (DSMSE)

    The DSMSE is an omnibus measure of neuropsychological function that assesses a broad range of skills and is easy to administer. It is divided into items that test recall for personal information, orientation to season and day of week, memory, language, visuospatial function, and praxis. Recall for personal information is tested with questions about the subject's name, age and birth date. Orientation items ask the day of the week and season of the year. Memory in the DSMSE is assessed with items that require immediate and delayed recall of three objects and for the location of three hidden objects. Language items include confrontation naming, sentence repetition, and comprehension of one, two, and three step commands. Visuospatial items are three-dimensional block constructions. Praxis items include transitive and intransitive limb movements and a sequential task.

    Measured: Screening and Month 48, or until enrollment into a clinical trial

  4. Change in behavior as measured by the Vineland 3 (Informant Version)

    The Vineland Adaptive Behavior Scale 3 (VABS-II) I is a normed assessment tool that assesses adaptive behavior across the areas of communication, activities of daily living, and socialization. The tool is self-administered via interview toby a study partner using a tablet (e.g. iPad), takes approximately 45 minutes to complete and may be done remotely.

    The VABS-III scores range from 20-140. Higher scores indicate higher functioning. Specifically, these include 'very high' (domain and Adaptive Behavior Scale (ABC) Standard Scores of 130-140), "moderately high" (domain and ABC Standard Scores of 115-129), "adequate" (domain and ABC Standard Scores of 86-114), "moderately low" (domain and ABC Standard Scores of 71-85), and "low" (domain and ABC Standard Scores of 20-70).

    Measured: Baseline and Month 48, or until enrollment into a clinical trial

  5. Change in cognition as measured by the National Task Group Early Detection Screen for Dementia (NTG-EDSD)

    The National Task Group Early Detection Screen for Dementia (NTG-EDSD) is a screening tool which measures changes typically observed in dementia. It is composed of four primary sections about relative demographics, ratings of health, mental health, and life stressors, a review of multiple domains associated with adult functioning, and a review of chronic medical conditions. The NTG-EDSD is completed by a staff member who interviews the caregiver. It contains 40 questions/question groups and takes 15 mins to administer.

    Measured: Baseline and Month 48, or until enrollment into a clinical trial

  6. Change in cognition as measured by the Stroop Dog and Cat Task

    In the Stroop Dog and Cat Task, a linear sequence of 16 pictures (8 cats, 8 dogs) are presented in a pre-determined random order. In the control condition the subject says the name of each picture and is urged to do so rapidly. In the experimental (inhibition) condition the participant is required to say 'cat' for the picture of each dog and 'dog' for the cat. For each condition the participant is given a brief practice period. Performance on the Stroop Dog and Cat was significantly related to informant-reported memory changes in 103 adults with DS with mild-moderate intellectual disability in the age range of 36 - 72 years.

    Measured: Baseline and Month 48, or until enrollment into a clinical trial

  7. Clinical Global Impression of Change in Down Syndrome (CGIC-DS)

    CGIC-DS is a semi-structured interview with the study partner of participants with DS lasting ~20 min. 3 areas are assessed - cognition, daily living function, mood/behavior. Items to probe in these areas were developed empirically by clinicians familiar with AD in persons with DS. 11 items are probed for cognition, 8 for daily living function, 6 for behavior/mood. For each domain, a general item is included to cover areas of importance for the participant which are not part of the regular probes. At baseline, the study partner is interviewed about performance in these areas. For visits at which change from baseline is scored, the study partner is interviewed and asked about changes in each item. For each of the 3 domains, a change score is assigned on a 7-pt scale: 1 = marked improvement, 2 = moderately improvement, 3 = minimal improvement, 4 = no change, 5 = minimal worsening, 6 = moderate worsening, 7 = marked worsening. An overall score is assigned using the same 7-pt scheme.

    Measured: Baseline and Month 48 or until enrollment into a clinical trial

  8. Change in brain volume as measured by magnetic resonance imaging (MRI)

    Measured: Baseline and Month 48, or until enrollment into a clinical trial

  9. Change in plasma Amyloid Beta (Abeta) biomarkers

    Measured: Baseline and Month 48, or until enrollment into a clinical trial

  10. Change in plasma tau biomarkers

    Measured: Baseline and Month 48, or until enrollment into a clinical trial

Timeline

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

  1. First posted15 Nov 2019
  2. Study start7 Jun 2021
  3. Primary completion31 Dec 2027 (estimated)
  4. Study completion31 Dec 2027 (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
Cohort
Time perspective
Prospective
Enrolment
550 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT04165109
Sponsor's protocol ID
ATRI-006
Other IDs
1R61AG066543-01
Acronym
TRC-DS
Status last verified
May 2026
First submitted
25 Oct 2019
Last updated
18 May 2026
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
No
FDA-regulated device
No

Publications

  • Hardy J. The discovery of Alzheimer-causing mutations in the APP gene and the formulation of the "amyloid cascade hypothesis". FEBS J. 2017 Apr;284(7):1040-1044. doi: 10.1111/febs.14004.

    PubMed 28054745

  • Selkoe DJ, Hardy J. The amyloid hypothesis of Alzheimer's disease at 25 years. EMBO Mol Med. 2016 Jun 1;8(6):595-608. doi: 10.15252/emmm.201606210. Print 2016 Jun.

    PubMed 27025652

  • Handen BL, Cohen AD, Channamalappa U, Bulova P, Cannon SA, Cohen WI, Mathis CA, Price JC, Klunk WE. Imaging brain amyloid in nondemented young adults with Down syndrome using Pittsburgh compound B. Alzheimers Dement. 2012 Nov;8(6):496-501. doi: 10.1016/j.jalz.2011.09.229.

    PubMed 23102120

  • Rafii MS, Wishnek H, Brewer JB, Donohue MC, Ness S, Mobley WC, Aisen PS, Rissman RA. The down syndrome biomarker initiative (DSBI) pilot: proof of concept for deep phenotyping of Alzheimer's disease biomarkers in down syndrome. Front Behav Neurosci. 2015 Sep 14;9:239. doi: 10.3389/fnbeh.2015.00239. eCollection 2015.

    PubMed 26441570

  • Lao PJ, Betthauser TJ, Hillmer AT, Price JC, Klunk WE, Mihaila I, Higgins AT, Bulova PD, Hartley SL, Hardison R, Tumuluru RV, Murali D, Mathis CA, Cohen AD, Barnhart TE, Devenny DA, Mailick MR, Johnson SC, Handen BL, Christian BT. The effects of normal aging on amyloid-beta deposition in nondemented adults with Down syndrome as imaged by carbon 11-labeled Pittsburgh compound B. Alzheimers Dement. 2016 Apr;12(4):380-90. doi: 10.1016/j.jalz.2015.05.013. Epub 2015 Jun 13.

    PubMed 26079411

  • Rafii MS, Lukic AS, Andrews RD, Brewer J, Rissman RA, Strother SC, Wernick MN, Pennington C, Mobley WC, Ness S, Matthews DC; Down Syndrome Biomarker Initiative and the Alzheimer's Disease Neuroimaging Initiative. PET Imaging of Tau Pathology and Relationship to Amyloid, Longitudinal MRI, and Cognitive Change in Down Syndrome: Results from the Down Syndrome Biomarker Initiative (DSBI). J Alzheimers Dis. 2017;60(2):439-450. doi: 10.3233/JAD-170390.

    PubMed 28946567

  • 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

  • Firth NC, Startin CM, Hithersay R, Hamburg S, Wijeratne PA, Mok KY, Hardy J, Alexander DC; LonDownS Consortium; Strydom A. Aging related cognitive changes associated with Alzheimer's disease in Down syndrome. Ann Clin Transl Neurol. 2018 May 20;5(6):741-751. doi: 10.1002/acn3.571. eCollection 2018 Jun.

    PubMed 29928657

  • 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

  • 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

Questions about this trial

What is this clinical trial studying?

An observational study of Down Syndrome and Alzheimer Disease, run by University of Southern California at 22 sites in 5 countries.

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 11 inclusion and 9 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: looking for participants now, as of the sponsor's last update on 18 May 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 22 sites in United States, France, Ireland, Spain, United Kingdom. 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 ATRI Recruitment Team (213-821-0569, DS-participate@usc.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Enrollment of participants into the Trial-Ready Cohort in DS (TRC-DS). (time frame: 5 years). 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 NCT04165109, which also lists 10 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 18 May 2026.

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