Relationship Between Down Syndrome (DS) and Alzheimer's Disease (AD)

Summary

In order to treat individuals with Down syndrome (DS) better and more efficiently and to gain more insights on its relation to Alzheimer's disease (AD), a comprehensive understanding is needed for its progression in the early or preclinical phase using various biomarkers. DS is a significant risk factor for the early development of AD, with plaques and tangles typically developing by age 35. A better understanding is needed of early markers of the disease in DS patients. Additionally the DS population represents a unique group - due to this elevated risk for AD - to examine biomarkers that may translate in general outside of the DS population to individuals at risk for developing late onset AD. In this proposal, the researchers will assess the longitudinal changes of various biomarkers in a cohort of individuals similar in design to the cross-sectional sectional study in the preliminary data.

Conditions

• Down Syndrome
• Alzheimer's Dementia

Interventions

PROCEDURE

biospecimen collection

Blood: ApoE genotyping, comprehensive metabolic panel, RNA sequencing. Urine: beta-hCG (human corionic gonadotropin) testing.

OTHER

cognitive assessments

Dementia Questionnaire for People with Learning Disabilities; Mini-Mental State Examination; Severe Impairment Battery; Vineland Adaptive Behavior Scale; Arizona Memory Assessment for Intellectual Disability; Kaufman Brief Intelligence Test; Nepsy Mazes; and, Timed Up and Go.

OTHER

caregiver questionnaire

PROCEDURE

Florbetapir F18 imaging

Used in small doses to image brain amyloid-beta deposits in human beings. Radioactivity necessary to create the positron emission tomography (PET) images. Radiation exposure is slightly more than a person would receive from a routine clinical head computed tomography scan.

PROCEDURE

MRI

Magnetic resonance imaging of the head and brain.

PROCEDURE

Fludeoxyglucose F18 (FDG)

Injected intravenously during a PET scan and is a marker for the tissue uptake of glucose; a radiopharmaceutical compound.

PROCEDURE

Tau Pet

Administered during a PET, in small amounts, necessary to create the scan images. Radioactive. The total amount of radiation is about the same that a patient receives from a routine abdominal/pelvis computerized tomography.

PROCEDURE

Actigraphy

A non-invasive method of monitoring human rest and activity cycles. A small actigraph unit is worn to measure gross motor activity. The unit is usually worn on the wrist.

Sponsors & Collaborators

• Banner Alzheimer's Institute, Phoenix

  collaborator UNKNOWN

• Translational Genomics Research Institute (TGEN), Phoenix

  collaborator UNKNOWN

• St. Joseph's Hospital and Medical Center, Phoenix

  lead OTHER

Principal Investigators

• Marwan N Sabbagh, MD · Barrow Neurological Institute

Study Design

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

21 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2016-11-30

Primary Completion

2018-12-31

Completion

2018-12-31

Countries

• United States

Study Locations