ABC-DS Information for Patients and Families
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The Alzheimer's Biomarkers Consortium of Down Syndrome (ABC-DS) is a new initiative that aims to identify biomarkers that indicate Alzheimer's disease is developing or progressing and track the Alzheimer's disease process in people with Down syndrome. It is a joint study conducted by two groups of research collaborators—Neurodegeneration in Aging Down Syndrome (NiAD) and Alzheimer's Disease in Down Syndrome (ADDS)—and is funded by the National Institute on Aging (NIA) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), both part of NIH.
The connection between these two conditions is rooted in chromosome 21. People with Down syndrome are born with three copies of the chromosome, rather than two. The chromosome carries a gene that produces a protein called amyloid precursor protein (APP). Too much APP can lead to a buildup of protein clumps called beta-amyloid plaques in the brain. The presence of beta-amyloid plaques is one of the main characteristics of Alzheimer's disease.
ABC-DS researchers are building on what we already know to better understand the course of Alzheimer's disease in people with Down syndrome, as well as risk and/or protective factors. To do so, researchers will collect brain imaging scans and blood and tissue samples from adult volunteers with Down syndrome, along with a small group of their brothers and sisters interested in participation. These samples will be used to investigate biomarkers that may reveal new information about the connection between Alzheimer's and Down syndrome.
Scientists are hopeful that ABC-DS and other research on Alzheimer's and Down syndrome will not only help those with both conditions, but also may lead to effective interventions for all people with Alzheimer's.
NIA and NICHD are providing an estimated $37 million over five years to support ABC-DS. To advance Alzheimer's and Down syndrome research worldwide, ABC-DS data and samples will be freely available to qualified researchers.
Researchers are looking for more than 500 volunteers with Down syndrome, age 25 years and older, and, at selected sites, their siblings, to participate in ABC-DS studies. Volunteers must be willing to provide samples and undergo tests to help researchers identify and track Alzheimer's-related changes in the brain and cognition, including:
- Cognitive and memory tests and evaluation of medical conditions
- Blood to identify biomarkers and collect DNA
- There are some measures that are optional, and they include:
- Magnetic resonance imaging (MRI) scans
- Positron emission tomography (PET) scans
- Cerebrospinal fluid collection
If you or a loved one has Down syndrome, are over 25 years of age, and are interested in learning more about or participating in a study organized by ABC-DS, contact one of the clinical sites listed below.
Barrow Neurological Institute, Phoenix, AZ
|Sandy Quintanilla (602-406-7054)|
Columbia University Medical Center, New York, NY
|Deborah Pang (718-494-5165)|
The New York State Institute for Basic Research in Developmental Disabilities, New York, NY
|Deborah Pang (212-342-1575)|
Harvard University/Massachusetts General Hospital, Boston, MA
|Nusrat Jahan (617-726-9045)
Courtney Jordan (617-724-2227)
University of California, Irvine, Irvine, CA
|Eric Doran (714-456-8443)
Alicia Hernandez (714-456-5333)
University of Cambridge, Cambridge, UK
|Concepcion Padilla (+44-1223-746127)|
University of Pittsburgh, Pittsburgh, PA
|Cathy Wolfe (412-235-5412)|
University of Wisconsin, Madison, WI
|Renee Makuch (606-262-4717)|
There are many ways to learn about other research opportunities related to Alzheimer's disease and Down syndrome.
- Visit the Neurodegeneration in Aging Down Syndrome (NiAD) website. NiAD is one of the two research groups that make up ABC-DS.
- Visit the DS-Connect® website, a voluntary, confidential, online registry managed by NICHD. You, your parent or guardian, or your legally authorized representative can submit information about your health and choose to be contacted about research opportunities, if desired. Visit the DS-Connect website or email DSConnect@nih.gov for more information and to sign up.
- Learn more about participating in Alzheimer's disease research and search the NIA's Alzheimer's disease clinical trials finder.
- Look at the National Down Syndrome Society's directory of studies.
- Visit NIH's "Clinical Research Trials and You."
For more information about the connection between Alzheimer's and Down syndrome, please visit these resources:
- Alzheimer's Disease in People with Down Syndrome Fact Sheet (NIH)
- An Introduction to Alzheimer's Disease (National Down Syndrome Society)
- A Caregiver's Guide to Down Syndrome & Alzheimer's Disease (National Down Syndrome Society)
- Down Syndrome and Alzheimer's Disease (Alzheimer's Association)
- Aging and Down Syndrome: A Health & Well-Being Guidebook (National Down Syndrome Society)
- Down Syndrome: Overview (NIH)
About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): NICHD conducts and supports research in the United States and throughout the world on fetal, infant and child development; maternal, child and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit NICHD's website.
About the National Institute on Aging (NIA): The NIA leads the federal government effort conducting and supporting research on aging and the health and well-being of older people. It provides information on age-related cognitive change and neurodegenerative disease specifically at its Alzheimer's and related Dementias Education and Referral (ADEAR) Center.