Now Available: Final Rule for FDAAA 801 and NIH Policy on Clinical Trial Reporting

Natural History of Amyloid Deposition in Adults With Down Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2016 by University of Pittsburgh
National Institute on Aging (NIA)
Information provided by (Responsible Party):
Benjamin L Handen, PhD, BCBA-D, University of Pittsburgh Identifier:
First received: February 22, 2011
Last updated: January 8, 2016
Last verified: January 2016
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.

Down Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Natural History of Amyloid Deposition in Adults With Down Syndrome

Resource links provided by NLM:

Further study details as provided by University of Pittsburgh:

Primary Outcome Measures:
  • Amyloid deposition [ Time Frame: every 36 months ] [ Designated as safety issue: No ]
    Obtained via PiB PET scan

Biospecimen Retention:   Samples With DNA
Trisomy 21 ApoE

Estimated Enrollment: 64
Study Start Date: August 2009
Estimated Study Completion Date: June 2017
Estimated Primary Completion Date: June 2017 (Final data collection date for primary outcome measure)
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.

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+.


Ages Eligible for Study:   30 Years and older   (Adult, Senior)
Genders Eligible for Study:   Both
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?
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01303133

Contact: Cathy J Wolfe, M.Ed. 412-235-5412

United States, Pennsylvania
University of Pittsburgh and University of Pittsburgh Medical Center Recruiting
Pittsburgh, Pennsylvania, United States, 15203
Contact: Cathy Wolfe, M.Ed.    412-235-5412   
Principal Investigator: Benjamin L Handen, PhD         
United States, Wisconsin
Waisman Center at the University of Wisconsin - Madison Recruiting
Madison, Wisconsin, United States, 53705
Contact: Renee Makuch    608-262-4717    MAKUCH@Waisman.Wisc.Edu   
Principal Investigator: Brad Christian, PhD         
Sponsors and Collaborators
University of Pittsburgh
National Institute on Aging (NIA)
Principal Investigator: Benjamin Handen, PhD University of Pittsburgh
  More Information

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 
Study First Received: February 22, 2011
Last Updated: January 8, 2016
Health Authority: United States: Federal Government

Keywords provided by 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 processed this record on October 20, 2016