ABC-DS (CPMS: 50597, IRAS: 299603)

UPDATED - 14 Sep 2022

Alzheimer’s Disease Biomarker Consortium- Down’s Syndrome (ABC-DS) syndrome

Individuals with Down syndrome (DS) have been largely neglected in therapeutic and biomarker studies of Alzheimer’s disease (AD). Adults with DS are uniformly affected by AD pathology by their 30’s and have a 70-80% chance of clinical dementia by their 60’s.

The Alzheimer’s Biomarker Consortium for Down Syndrome (ABC-DS) assembles an exceptional and highly collaborative research team that will follow a cohort of people with DS to test hypotheses related to 1) how AD in DS may parallel sporadic AD within an amyloid, tau, neurodegeneration or ‘AT(N)’ (‘amyloid’, ‘tau’, ‘neurodegeneration’) framework and to identify modifiers of risk of conversion/progression; 2) to identify genetic modifiers of the development of AD in DS; and 3) to translate outcomes to a precision medicine framework and expedite clinical trials.

Inclusion & Exclusion Criteria

Inclusion criteria, potentially eligible to be invited to take part:

1. Trisomy 21, partial trisomy or mosaic DS (as confirmed by updated genetic testing or medical record review.

2. 25 years of age and older

3. IQ > 30 or a mental age (MA) of 36 months (or premorbid IQ > 30 or MA of 36 months for participants with MCI-DS) at cycle 1 ABC-DS (this cut-off not required for individuals with uncertain reason for decline, but not likely due to dementia, at the start of the study, or participants already enrolled in the study).

4. Reliable carer capable of providing correct information about the participant's clinical symptoms and history.

5. Agreement of carer and clinician/researcher that the subject is able to cooperate with the protocol tasks.

6. Provision of legally valid consent and assent;

7. Adequate visual and auditory acuity to complete neuropsychological testing;

Exclusion criteria, not to be invited to take part: 

1. Do not consent or assent

2. Any significant disease or unstable medical condition that could affect neuropsychological testing (i.e., unstable cardiac problems, chronic renal failure, chronic hepatic disease, severe pulmonary disease) or significant uncorrected sensory impairment at baseline.

3. Participants in whom magnetic resonance imaging (MRI) is contraindicated including, but not limited to, those with a pacemaker, presence of metallic fragments near the eyes or spinal cord, or cochlear implant (dental fillings do not present a risk for MRI). (for participants who undergo scanning)

4. Claustrophobia or prior failed experiences of completing MRI scans (for participants who undergo scanning) or giving blood samples

5. Unable to indicate hearing tones delivered at 1000 Hz and 3000 Hz at 55 dB by the Siemens HearCheck Screener (for EEG participants only)

6. Taking psychoactive drugs (for EEG participants only)

7. Pregnancy or breast-feeding mothers (for participants who undergo scanning)

8. Current diagnosis of cancer (excluding non-melanoma related skin cancers) or treatment for cancer within the previous 24 months.

9. Need for chronic use of blood thinners (precludes cerebrospinal fluid (CSF) evaluation).

10. Diagnosis of DS-AD

11. Adequate visual and audit

Study Resources

Access for the SystmOne and EMIS study resources can be requested below.

For further guidance on using the resources, please refer to the guidance documents and further useful information on the PRIDES page.

If you have any questions about using the resources provided or would like to be involved in the development of future resources please get in touch through the Contact Page.

Disclaimer:

Please note the resources provided are designed to assist with the identification of potentially suitable patients and to appropriately code these patients if required.

These resources have been developed based on the criteria provided by the relevant study team and whilst every effort has been made to make them universally implementable they rely on read codes and the data stored in the individual practice's clinical system. These resources are intended to assist with identification but should be used in conjunction with clinical oversight and a clear understanding of the study parameters.

While we endeavour to keep the information, tools and resources provided up to date and correct, we make no representations or warranties of any kind, express or implied, about the completeness, accuracy, reliability, suitability or availability with respect to the tools provided for any purpose. Any reliance you place on such information is therefore strictly at your own risk.

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