History of Amyloid Deposition in Adults With Down Syndrome
| Status: | Completed |
|---|---|
| Conditions: | Alzheimer Disease, Other Indications |
| Therapuetic Areas: | Neurology, Other |
| Healthy: | No |
| Age Range: | 30 - 80 |
| Updated: | 1/9/2016 |
| Start Date: | December 2010 |
| End Date: | December 2012 |
| Contact: | Benjamin L Handen, PhD |
| Email: | handenbl@upmc.edu |
| Phone: | 412-235-5445 |
Natural 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.
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.
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.
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.
Inclusion Criteria:
- Adults with Down Syndrome over the age of 30 years.
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