Natural History of Amyloid Deposition in Adults With Down Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01303133
Recruitment Status : Completed
First Posted : February 24, 2011
Last Update Posted : August 10, 2018
National Institute on Aging (NIA)
Information provided by (Responsible Party):
Benjamin L Handen, PhD, BCBA-D, University of Pittsburgh

Brief Summary:
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.

Condition or disease
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
Actual Enrollment : 81 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Natural History of Amyloid Deposition in Adults With Down Syndrome
Study Start Date : August 2009
Actual Primary Completion Date : March 31, 2018
Actual Study Completion Date : March 31, 2018

Resource links provided by the National Library of Medicine

Adults with Down Syndrome ages 30+
We will be recruiting healthy adults with Down syndrome ages 30 and over. Participants cannot have a diagnosis of dementia.

Primary Outcome Measures :
  1. Amyloid deposition [ Time Frame: every 36 months for 9 years ]
    Obtained via PiB PET scan

Biospecimen Retention:   Samples With DNA
Trisomy 21 ApoE

Information from the National Library of Medicine

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Ages Eligible for Study:   30 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Non-Demented Adults with Down Syndrome, ages 30 and above

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?

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01303133

United States, Pennsylvania
University of Pittsburgh and University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, United States, 15203
United States, Wisconsin
Waisman Center at the University of Wisconsin - Madison
Madison, Wisconsin, United States, 53705
Sponsors and Collaborators
University of Pittsburgh
National Institute on Aging (NIA)
Principal Investigator: Benjamin Handen, PhD University of Pittsburgh

Responsible Party: Benjamin L Handen, PhD, BCBA-D, Principal Investigator, University of Pittsburgh Identifier: NCT01303133     History of Changes
Obsolete Identifiers: NCT01412255
Other Study ID Numbers: PRO09080266
2R01AG031110-03A1 ( U.S. NIH Grant/Contract )
First Posted: February 24, 2011    Key Record Dates
Last Update Posted: August 10, 2018
Last Verified: August 2018

Keywords provided by Benjamin L Handen, PhD, BCBA-D, University of Pittsburgh:
beta amyloid, Down Syndrome, Alzheimer's Disease

Additional relevant MeSH terms:
Down Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn