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Down Syndrome Biomarker Initiative (DSBI) (DSBI)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02141971
Recruitment Status : Completed
First Posted : May 20, 2014
Last Update Posted : May 2, 2017
Janssen Research & Development, LLC
Information provided by (Responsible Party):
Michael Rafii, University of California, San Diego

Brief Summary:

Non-randomized natural history study involving 12 subjects with Down Syndrome, who are aged 30-60 years old. This study will observe 3 different groups: four non-demented subjects between ages 30-40 years old, four non-demented subjects between ages 40-50 years old, and four demented subjects 50-60 years old.

Currently available longitudinal data in DS suggest a high rate of transition to dementia from the late 40s through the early 50s of these individuals. This, together with the universal presence of plaques in DS by their mid 40s makes this age range ideal for studying the development of AD.

Condition or disease
Down Syndrome Alzheimer's Disease

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Study Type : Observational
Actual Enrollment : 12 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Down Syndrome Biomarker Initiative: A Natural History Study of Alzheimer's Disease in Down Syndrome (Pilot Study)
Actual Study Start Date : June 1, 2013
Actual Primary Completion Date : April 15, 2017
Actual Study Completion Date : April 15, 2017

Non-demented; Ages 30-40
Four non-demented Down syndrome patients between the ages of 30-40 years old
Non-demented; Ages 40-50
Four non-demented Down syndrome patients between the ages of 40-50 years old
Demented; Ages 50-60
Four demented Down syndrome patients between the ages of 50-60 years old

Primary Outcome Measures :
  1. Rate of decline as measured by cognitive, functional and behavioral tests [ Time Frame: 3 years ]

Secondary Outcome Measures :
  1. Rate of conversion will be evaluated among all age groups [ Time Frame: 3 years ]
  2. Rate of volume change of whole brain, hippocampus, and other structural Magnetic resonance imaging (MRI) measures. [ Time Frame: 3 years ]
  3. Rates of change on each specified biochemical biomarkers [ Time Frame: 3 years ]
  4. Rates of change of glucose metabolism as measured by fluorodeoxyglucose positron emission tomography (FDG-PET) imaging [ Time Frame: 2 years ]
  5. Extent of amyloid deposition as measured amyloid PET imaging [ Time Frame: 3 years ]
  6. Rates of change on retinal amyloid measures. [ Time Frame: 3 years ]
  7. Correlations among biomarkers and cognitive change. [ Time Frame: 3 years ]
  8. Correlations of Tau deposition as measured by 18F-AV-1451 PET (Tau) imaging with other biomarkers [ Time Frame: 1 year ]

Biospecimen Retention:   Samples With DNA
blood, urine, cerebrospinal fluid

Information from the National Library of Medicine

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Ages Eligible for Study:   30 Years to 60 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Community sample

Inclusion Criteria:

  • Male and female subjects 30 to 60 years of age inclusive with chromosome karyotype of Down Syndrome due to Trisomy 21.
  • Subjects must have a study partner (parent or other reliable caregiver) who has at least 10 hours of contact and who agrees to accompany the subject to all clinic visits and provide information about the subject's behavior and symptoms.
  • Participant is able to speak/communicate.
  • Subject is willing and has no contraindications to MRI scanning.
  • Participant or parent/legal guardian provides consent.
  • Participant must agree to allow for indefinite storage of his/her data and samples.

Exclusion Criteria:

  • Patients who are anarthric or mute.
  • Patients who do not meet the criteria for the diagnosis of DS.
  • Patients unwilling or unable to participate in all tests and procedures.
  • Unstable medical or behavioral issues.
  • Unable or unwilling to perform MRI and/or PET imaging.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02141971

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United States, California
University of California, San Diego
La Jolla, California, United States, 92037
Sponsors and Collaborators
Michael Rafii
Janssen Research & Development, LLC
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Principal Investigator: Michael S. Rafii, MD, PhD University of California, San Diego
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Michael Rafii, Associate Professor, University of California, San Diego
ClinicalTrials.gov Identifier: NCT02141971    
Other Study ID Numbers: DSBI
First Posted: May 20, 2014    Key Record Dates
Last Update Posted: May 2, 2017
Last Verified: May 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Michael Rafii, University of California, San Diego:
Down syndrome
Alzheimer's disease
Additional relevant MeSH terms:
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Alzheimer Disease
Down Syndrome
Pathologic Processes
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurodegenerative Diseases
Neurocognitive Disorders
Mental Disorders
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn