Down Syndrome Clinical Trials - Study of Alzheimer's Disease in Down Syndrome

NCT04149197 | Terminated

• 1 other identifier: ADC-059-LIFE-DSR
• Study Type: observational
• Target: 252
• Locations: 1 country
• Sites: 14

Brief Summary

The primary objective is to characterize trajectories of change on the primary outcome measures in this study population through longitudinal collection of measures of cognition, function, behavior, and health status.

Conditions

Alzheimer's Disease in Down Syndrome

Keywords

Down Syndrome; Alzheimer's Disease

Outcome Measures

Primary Outcomes (5)

• Cognitive Measure

  Severe Impairment Battery (SIB) with Shoebox Test. If the participant achieves a score 60 or above on the SIB, the Down Syndrome Mental Status Examination (DS-MSE) will also be administered. Subscale Ranges: Social Interaction - 0 - 6 Orientation - 0 - 8 Visuospatial Ability - 0 - 8 Construction - 0 - 12 Language - 0 - 56 Memory - 0 - 16 Praxis - 0 - 8 Attention - 0 - 15 Orienting to name - 0 - 4 Higher scores reflect better performance for each subscale. Scores above 60 mean the participant completes the Shoebox Memory Test.

  through study completion, an average of 2 years

• Functional Measure

  The Vineland Adaptive Behavior Scales, Third Edition (Vineland-3) Vineland-3 is an adaptive behavior measure used to assess intellectual/developmental/other disabilities. Total score range: 0 - 140 Expressive Communication: 0 - 98 49 questions - range: 0 - 2 per Q Written Communication: 0 - 76 38 questions - range: 0 - 2 per Q Personal Daily Living Skills - 0 - 110 55 questions - range: 0 - 2 per Q

  through study completion, an average of 2 years

• Behavioral Measure

  Dementia Questionnaire for People with Learning Disabilities (DLD) - Measures specific cognitive and functional deterioration as a result of dementia, and functional deterioration as a result of severe sensory or psychiatric problems. Range of total possible scores: 0 - 100 50 Questions with a possible range of 0 - 2 per question. Higher scores reflect worse performance. Score Calculation: Categories are mixed throughout the questionnaire. To calculate the score at the end, scores on each page are added up and categorizes into Cognitive Scores, or SCS (categories 1 - 3: Short-term memory, Long-term memory, and Spatial \& Temporal Orientation) and Social Scores, or SOS (Categories 4 - 8: Speech, Practical Skills, Mood, Activity \& Interest, Behavioral Disturbance).

  through study completion, an average of 2 years

• Health Measures

  New-onset seizures or significantly increased frequency of seizures

  through study completion, an average of 2 years

• Behavioral Measure

  Neuropsychiatric Inventory (NPI) - Neuropsychiatric Inventory (NPI) evaluates both the frequency and severity of 10 neuropsychiatric features, including delusions, hallucinations, agitation/aggression, dysphoria, anxiety, euphoria, apathy, disinhibition, irritability and lability, and aberrant motor behavior, as well as evaluates sleep and appetite/eating disorders. Frequency assessments range from 1 (occasionally, less than once per week) to 4 (very frequently, once or more per day or continuously). Severity assessments range from 1 (mild) to 3 (severe). The score for each subscale is the product of severity and frequency and the total score is the sum of all subscales.

  through study completion, an average of 2 years

Secondary Outcomes (3)

• Exploratory Outcome Measure Preliminary composite measure from the scales being used in LIFE-DSR

  through study completion, an average of 2 years

• Exploratory Outcome Measure Novel multi-domain instrument for AD-DS development

  through study completion, an average of 2 years

• Exploratory Outcome Measure Potential Screening Measures

  through study completion, an average of 2 years

Eligibility Criteria

• Age: 25 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Males and females, aged 25 and older, with a diagnosis of DS, typically supported by karyotype analysis documenting full trisomy for chromosome 21 or complete unbalanced translocation of chromosome 21.

You may qualify if:

• Age 25 years or older
• Diagnosis of DS, typically supported by karyotype analysis documenting full trisomy for chromosome 21 or complete unbalanced translocation of chromosome 21. Karyotype analysis is not required for study entry
• Participants, or Legal Authorized Representative, and their study partner if applicable, in the opinion of the investigator, are able to understand and willing to sign written informed consent.
• Participants must have a study partner who has frequent interaction with the participant on a regular basis, will agree to participate in annual clinic visits, can provide accurate responses to questions about the participant, and facilitate participation in the study visits, in the opinion of site PI or study coordinator.
• Participant and study partner must be capable of reliably completing study assessments.

Sponsors & Collaborators

• LuMind IDSC Foundation: lead

Study Sites (14)

Barrow Neurological Institute

Phoenix, Arizona, 85013, United States

Location

University California Irvine

Irvine, California, 92697, United States

Location

University of California, San Diego

La Jolla, California, 92093, United States

Location

Emory University

Atlanta, Georgia, 30322, United States

Location

Rush University Medical Center

Chicago, Illinois, 60612, United States

Location

Advocate Health

Park Ridge, Illinois, 60068, United States

Location

Kansas University Medical Center

Fairway, Kansas, 66205, United States

Location

University Of Kentucky

Lexington, Kentucky, 40536, United States

Location

Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

Location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

Massachusetts General Hospital

Charlestown, Massachusetts, 02129, United States

Location

Duke University Medical Center

Durham, North Carolina, 27710, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Case Western Reserve University

Cleveland, Ohio, 044106, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

A blood sample will be collected at the baseline, Month 16 and Month 32 visits for banking of plasma for future biomarker studies, which may include analysis of AD biomarkers such as amyloid beta (Aβ) or tau. In addition to biomarker analysis, future genotyping studies may also be conducted. Apolipoprotein E (APOE) (e4 +/-) genotype and other genetic variations are associated with the risk of onset of AD. Therefore, this blood sample collected at baseline, Month 16 and Month 32 will also include banking of buffy coat for future gene analyses which may include APOE testing of e2, e3, and e4 alleles as well as other genes associated with AD.

MeSH Terms

Conditions

Down Syndrome; Alzheimer Disease

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Dementia; Brain Diseases; Central Nervous System Diseases; Tauopathies; Neurodegenerative Diseases; Neurocognitive Disorders; Mental Disorders

Study Officials

• Lois Kelly

  LuMind IDSC Foundation

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 26, 2019
• First Posted: November 4, 2019
• Study Start: June 30, 2019
• Primary Completion: April 17, 2024
• Study Completion: April 17, 2024
• Last Updated: June 27, 2024

Record last verified: 2024-06

Data Sharing

• IPD Sharing: Will not share

Locations

US (14)