Natural History of Amyloid Deposition in Adults With Down Syndrome

The primary objective of this study is to assess the presence of amyloid in non-demented/functionally stable adults with DS as a function of age, dividing the sample into amyloid-positive and amyloid-negative groups. We will also obtain baseline cognitive measures across a range of areas that are often affected by AD.

Study Overview

• Status: Completed
• Conditions: Down Syndrome

Detailed Description

Specific Aim 1: To assess and compare amyloid deposition (with PiB PET) in non-demented/functionally stable adults with DS across three age cohorts (30-39, 40-49, and >50 years of age).

Primary Hypothesis 1: At initial assessment, there will be a significantly higher prevalence of amyloid-positive (PiB+) subjects in each succeeding age cohort.

In addition, we will test the following secondary hypothesis:

Secondary Aim 1: To compare the presence or absence of the apolipoprotein-E4 allele to the retention of PiB in various brain areas of the DS subjects.

Secondary Hypothesis 1: At baseline, subjects who carry at least one Apolipoprotein-E4 (ApoE4) allele will show a higher prevalence of being PiB+.

• Study Type: Observational
• Enrollment (Actual): 81

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Pittsburgh, Pennsylvania, United States, 15203
      • University of Pittsburgh and University of Pittsburgh Medical Center
  • Wisconsin
    • Madison, Wisconsin, United States, 53705
      • Waisman Center at the University of Wisconsin - Madison

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 30 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Non-Demented Adults with Down Syndrome, ages 30 and above

Description

Inclusion Criteria:

1. Participant IQ at least 47 (based upon Stanford-Binet V Abbrev. Test Battery)
2. Participant at least 30 years of age
3. DSDS score indicating participant is asymptomatic for AD
4. Reliable caregiver who is capable of providing correct information about the participant's clinical symptoms and history
5. Agreement of caregiver and clinician that participant is able to cooperate with the protocol tasks
6. Participant has provided assent (or consent) and/or parent/caregiver has provided informed consent

Exclusion Criteria:

1. Participant is non-verbal or has extremely limited language skills
2. Score within the "symptomatic" range on the DSDS
3. Any significant disease or unstable medical condition that could affect neuropsychological testing
4. Any problems with vision or hearing that could affect neuropsychological testing
5. Participants in whom MRI is contraindicated
6. Claustrophobia or prior failed experiences of completing MRI scans or blood draws
7. Participant is pregnant or breast feeding
8. History or other evidence of severe illness or other condition that would make the participant, in the opinion of the investigator, unsuitable for the study?

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
Adults with Down Syndrome ages 30+ (PiB-/-); We will be recruiting healthy adults with Down syndrome ages 30 and over. Participants cannot have a diagnosis of dementia.
Adults with Down Syndrome ages 30+ (PiB-/+)
Adults with Down Syndrome ages 30+ (PiB+/+)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Amyloid deposition	Obtained via PiB PET scan	every 36 months for 9 years

Collaborators and Investigators

• Sponsor: University of Pittsburgh
• Collaborators: National Institute on Aging (NIA)
• Investigators: Principal Investigator: Benjamin Handen, PhD, University of Pittsburgh

Study record dates

Study Major Dates

• Study Start: August 1, 2009
• Primary Completion (Actual): March 31, 2018
• Study Completion (Actual): March 31, 2018

Study Registration Dates

• First Submitted: February 22, 2011
• First Submitted That Met QC Criteria: February 22, 2011
• First Posted (Estimate): February 24, 2011

Study Record Updates

• Last Update Posted (Actual): January 9, 2019
• Last Update Submitted That Met QC Criteria: January 7, 2019
• Last Verified: January 1, 2019

More Information

Terms related to this study

• Keywords: beta amyloid, Down Syndrome, Alzheimer's Disease
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Intellectual Disability; Abnormalities, Multiple; Chromosome Disorders; Syndrome; Down Syndrome
• Other Study ID Numbers: PRO09080266; 2R01AG031110-03A1 (U.S. NIH Grant/Contract)