NCT02759887

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

Longitudinal Assessment of Amyloid Positron Emission Tomography (PET), Fludeoxyglucose F18 (FDG) PET, Tau PET, Magnetic Resonance Imaging (MRI), and Blood Spot Ribonucleic Acid (RNA) in Down Syndrome Individuals With and Without Alzheimer's Dementia and Normal Controls

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 19 (actual)
• Sponsor: St. Joseph's Hospital and Medical Center, Phoenix · Academic / Other
• Sex: All
• Age: 21 Years
• Healthy volunteers: Accepted

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.

Detailed description

This study will recruit from three experimental groups: (1)The DS (adult) group will consist of 15 DS subjects aged 21 and older who do not qualify for the diagnosis of dementia at the beginning of the study. (2)The DS/AD group will consist of 15 DS subjects aged 40 and older who do qualify for the diagnosis of dementia by Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria. Diagnoses will be by standard consensus review of all cases. (3)Normal control (NC) adult will consist of 10 cognitively normal, non-DS individuals, age-matched to the DS group. Blood will be collected to assess apolipoprotein E (ApoE) genotype. Participation in the dried blood spot collection (DBSC) will be an optional sub-study. Only participants and/or their caregivers/legally authorized representatives indicating they wish to have DBSC performed on the consent will provide specimens.

Conditions

• Down Syndrome
• Alzheimer's Dementia

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2016-11-01
• Primary completion: 2018-12-01
• Completion: 2018-12-01
• First posted: 2016-05-03
• Last updated: 2019-10-29

Locations

1 site across 1 country: United States