Cholinergic Integrity in Down Syndrome in Association With Aging, Alzheimer's Disease Pathology, and Cognition

Trial statusRecruiting
Trial phasePhase 2
Trial typeInterventional
Biological sexAll
Age18-55
SponsorVanderbilt University Medical Center

About this trial

Progressive age-related cognitive deficits occurring in both AD and DS have been connected to the degeneration of several neuronal populations, but mechanisms are not fully elucidated. The most consistent neuronal losses throughout the progression of AD are seen in cholinergic neurons where these losses negatively affect cognition, particularly in attention, learning, and memory formation. Evidence of reduced cholinergic integrity in DS is largely limited to animal models and post-mortem human data. The investigators propose to use molecular, functional, and structural biomarkers to assess the cholinergic integrity in adults with DS. The investigators anticipate using the data gathered in this pilot study to inform future study designs to determine AD risk stratification in DS by identifying individuals who show an accelerated decline in cholinergic integrity that correlates with cognitive and neurobehavioral changes. Also, our cholinergic biomarkers may identify whether individuals with DS are likely to respond to pro-cholinergic interventions, including the novel cholinergic modulators that are being developed to enhance cholinergic-sensitive cognitive functioning. The investigators anticipate using the data gathered here to inform future treatment studies in TRC-DS and beyond where novel cholinergic treatments may offer opportunities for early intervention in DS and be complementary to disease-modifying approaches such as anti-amyloid treatments.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

Diagnosis of Down syndrome (DS), including mosaic DS or partial trisomy 21.

Provision of signed and dated informed consent form and if needed, assent with signed consent by a legally authorized representative (LAR).

Stated willingness to comply with all study procedures and availability for the duration of the study

Male or female, aged 18-55 inclusive.

Disqualifiers

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)

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)

Participants unable to complete MRI and PET procedures

IQ less than 40 (as assessed by Kaufman Brief Intelligence Test, Second Edition (KBIT-2).

Trial design

Design model

Single group

Treatments tested in this trial

  • [18F]-FEOBV Radiotracer

    Drug

    Participants will be administered an \[18F\]-fluoroethoxybenzovesamicol (FEOBV) radiotracer for diagnostic imaging purposes (PET scan).

Treatment groups

30 Participants
are divided into 1 treatment group
Group A: Down SyndromeExperimental treatment 1 intervention

Trial outcomes

Primary outcomes

1

[18F]-FEOBV radiotracer standardized uptake value ratio correlation with the Basal Forebrain Cholinergic System Volume.

The association of \[18F\]-FEOBV radiotracer standardized uptake value ratio with the the gray matter volume of the cholinergic basal forebrain in adults with Down syndrome.

Time frame
Analysis will be completed at study completion in approximately 3 years.

Secondary outcomes

1

EEG resting state power correlation with [18F]-FEOBV radiotracer standardized uptake value ratio

The association of EEG resting state power with \[18F\]-FEOBV radiotracer standardized uptake value ratio in adults with Down syndrome.

Time frame
Analysis will be completed at study completion in approximately 3 years.

Other outcomes

Sponsors and contacts

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Vanderbilt University Medical Center

Lead sponsor

Vanderbilt Kennedy Center

Collaborator

Alzheimer's Association

Collaborator

Fondation Jérôme Lejeune

Collaborator

National Institute on Aging (NIA)

Collaborator