Down Syndrome and Amyloid Deposition, Adult Study

Natural History Of Amyloid Deposition In Adults With Down Syndrome

Protocol Description

The purpose of this observational study is to use brain imaging and other tests to measure amyloid plaque deposits in the brains of healthy patients with Down syndrome. Individuals with Down syndrome have an extra chromosome number 21, which is also the chromosome responsible for production of amyloid. Amyloid plaques can build in the brain and are related to memory loss and Alzheimer’s disease. Because of the extra chromosome 21, people with Down syndrome may develop amyloid deposits much earlier than people without Down syndrome. Researchers will use magnetic resonance imaging (MRI) and positron emission tomography, more commonly known as a PET scan, along with other tests, which may prove to be predictive of increased risk for development of Alzheimer’s disease.

Eligibility Criteria

Subject to certain exclusion criteria, this study is open to men and women age 30 years and older who have been diagnosed with Down syndrome.
Males: Age 30 and up
Females: Age 30 and up


In the initial screening visit, to be conducted at the Merck Child and Adolescent Outpatient Clinic on Pittsburgh’s South Side, the participant will receive a description of the study, including a video showing the involved procedures, and will be given a range of neuropsychological tests. Each participant’s relative/caregiver will also complete a set of questionnaires. The second visit will include the MRI and PET scans and a blood draw and will be done at the Magnetic Resonance Research Center at UPMC Presbyterian in Oakland. Each visit lasts about 4 hours. They can be completed over 2 consecutive days.
Visits: 2
Duration: 2 days

Status: Open for Enrollment

Source(s) of Support

National Institute of Aging

Primary Investigator

Benjamin L. Handen, PhD, BCBA-D

Contact Information

For information or to enroll, please contact:
Sheila Cannon
412-692-7963, option 4