History of Amyloid Deposition in Adults With Down Syndrome
The impact of a significant number of adults with Down syndrome developing Alzheimer's disease in their middle and later years is considerable in terms of the burden to family and caretakers, the effect on quality of life for the individual, as well as the costs for providing medical care. Consequently, identification of the nature, cause and outcome of decreased cognitive performance in adult Down syndrome individuals will be an essential component to improving the quality of life of this population.
|Study Design:||Time Perspective: Prospective|
|Official Title:||Natural History of Amyloid Deposition in Adults With Down Syndrome|
- Assessing presence of amyloid in functionally stable adults with DS [ Time Frame: Years 1 and 2 all participants will have brain function measures assessed during 2 visits to the site which may be consecutively or at convenience of participant. This conclude participant's participation in this study. ] [ Designated as safety issue: No ]The primary objective of this proposal 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 Start Date:||December 2010|
|Estimated Study Completion Date:||December 2012|
|Estimated Primary Completion Date:||August 2012 (Final data collection date for primary outcome measure)|
Cohort 1 Adults with DS
Adults ages 30 to over 50 years of age
Our research group at the University of Pittsburgh has recently developed a promising, non-invasive, in vivo PET tracer for imaging amyloid deposition in living humans. Known as Pittsburgh Compound-B (PiB), it has shown much promise in documenting pre-symptomatic amyloid deposition in living subjects destined to develop Alzheimer's disease (AD). PiB also provides a means to determine the natural history of amyloid deposition. While there has been increasing use of PiB to assess amyloid deposition in cognitively normal individuals, the fact remains that despite identifiable risk factors that increase the likelihood of acquiring AD (e.g., age, family history, ApoE4), we cannot identify with certainty those who will develop AD. This makes the study of pre-clinical amyloid deposition difficult in the general population. Conversely, individuals with Down syndrome (DS) are at high risk for developing AD due to the presence of an extra copy of chromosome 21, which codes for the Ab precursor protein (APP) gene. Post-mortem studies have documented the presence of AD pathology in 60 to 90% of adults with DS (with greater pathology increasing with age)(Additionally, symptoms of AD occur in over 40% for DS individuals between 50 and 59 years of age. Thus, the study of adults with DS provides a valuable opportunity to follow the natural history of amyloid deposition and compare it to clinical symptomatology - knowing that approximately half of the group will eventually develop clinical AD and an even greater fraction will develop amyloid deposits. Toward that end, the current multi-center proposal (University of Pittsburgh and University of Wisconsin) will document amyloid deposition in 64 non-demented/functionally stable adults with DS over a two-year period. We will study three age cohorts: 30-39 yrs, 40-49 yrs and >50 yrs. Subjects will also be assessed for the presence of the apolipoprotein-E4 (ApoE4) allele to determine its possible association with accelerated deposition brain amyloid. While we will not complete a natural history study of amyloid deposition in DS during the current project period, this effort will lay the foundation by gathering a valuable cohort of PiB+, non-demented DS subjects that we can follow beyond this grant period with future funding.
|Contact: Benjamin L Handen, PhDemail@example.com|
|Contact: David Maloney, BAfirstname.lastname@example.org|
|United States, Pennsylvania|
|University of Pittsburgh Medical Center||Recruiting|
|Pittsburgh, Pennsylvania, United States, 15213|
|Contact: Benjamind L Handen, PhD 412-235-5445 email@example.com|
|Contact: David Maloney, BA 412-235-5407 firstname.lastname@example.org|
|Principal Investigator: Benjamin L Handen, PhD|