Down SyndromePhase 3NCT06860373
LIFE-DSR-Biomarker Sub-study of Biomarkers in Down Syndrome Related Alzheimer's Disease (DS-AD)
A Phase 3 study testing [18F]MK-6240 in people with Down Syndrome, run by LuMind IDSC Foundation at 1 site in United States.
Trial summary
This is an optional sub-study that will enroll participants from the LIFE-DSR parent protocol. Participants will undergo assessments at two timepoints, including: additional blood samples for PBMC and RNA extraction, as well as a lumbar puncture for collection of CSF, and/or MRI and tau PET imaging. Read more about this study
- Who is it for?
- Ages 35 to 55 years
- Conditions the study is for
- Down Syndrome
- What is being tested?
- [18F]MK-6240
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Jun 2023to 17 Apr 2024
- Phase
- Phase 3
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 35 to 55 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- The participant must be currently enrolled in the LIFE-DSR parent protocol.
- The adult with DS must be age 35 to 55 years.
- Both the participant, or LAR, and their caregiver must be able to understand and be willing to provide consent. The LAR will sign the informed consent. The participant will sign the informed consent or assent.
- Both the participant, or LAR, and their caregiver must be willing to comply with the scheduled visits and scheduled assessments.
- Agreement of caregiver and clinician the participant can cooperate with protocol tasks.
Who cannot join
- Participants meeting any of these criteria are excluded from the LP portion of the sub-study.
- Assessment (per medical history, physical exam, vital signs or other clinically relevant measure or circumstance) which, in the opinion of the site PI, makes the participant unsuitable for participation in this study.
- Evidence for raised intracranial pressure. Examples include papilledema on physical exam or CNS lesion with mass effect.
- Presence of lower spinal malformations, prior lumbosacral spinal surgery, local infection, or other abnormalities that would exclude lumbar puncture.
- Allergy to Lidocaine (xylocaine) or its derivatives.
- Evidence or history of significant active bleeding or coagulation disorder, or use of anticoagulant medications such as coumadin, heparin, thrombin inhibitors (e.g., dabigatran) or factor Xa inhibitors (e.g., apixaban).
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- Previous or ongoing treatment with aducanumab (AduhelmTM) OR any anti-amyloid OR any anti-tau antibody OR investigational treatment within the previous 30-calendar days of this sub-study baseline LP. Treatment with AduhelmTM is permitted in the LIFE-DSR parent protocol but precludes participation in this LP sub-study.
- Participants meeting any of these criteria are excluded from the imaging portion of the sub-study.
- Contraindication to MRI or PET scans, evidenced by presence or history of any significant or uncontrolled medical condition which, in the opinion of the Investigator, would increase the potential risk to the study participant (e.g., history of CNS infection, history of exposure to CNS toxin, epilepsy, sensitivity to flashing lights, pacemaker).
- Participants in whom MRI is contraindicated including, but not limited to, those with a pacemaker, presence of metallic fragments near the eyes or spinal cord or cochlear implant. Dental fillings do not present a risk for MRI.
- Suffers from claustrophobia, inability to tolerate confined spaces, or prior failed experience completing MRI scans or blood draws.
- Positive pregnancy test or currently breast-feeding.
- Previous or ongoing treatment with aducanumab (AduhelmTM) OR any anti-amyloid OR any anti-tau antibody OR investigational treatment within the previous 30-calendar days of this sub-study baseline PET. Treatment with AduhelmTM is permitted in the LIFE-DSR parent protocol but precludes participation in this imaging sub-study.
Trial locations and contacts
1 site in 1 country.
United States1 site
Barrow Neurological Institute
Phoenix, Arizona, 85013
About this study
This is an optional sub-study that will enroll participants from the LIFE-DSR parent protocol. Participants will undergo assessments at two timepoints, including: additional blood samples for PBMC and RNA extraction, as well as a lumbar puncture for collection of CSF, and/or MRI and tau PET imaging. Sub-study visits will be scheduled around a similar calendar-day as the parent protocol study visits (e.g., Month (M) 0 (M0) and M16, or M16 and M32).
Read the detailed description
This is an optional sub-study that will enroll participants from the LIFE-DSR parent protocol. Participants will undergo assessments at two timepoints, including: additional blood samples for PBMC and RNA extraction, as well as a lumbar puncture for collection of CSF, and/or MRI and tau PET imaging. Sub-study visits will be scheduled around a similar calendar-day as the parent protocol study visits (e.g., Month (M) 0 (M0) and M16, or M16 and M32).
The aim is to increase knowledge of biomarkers of interest in DS-AD clinical progression and perform deep immunophenotyping of PBMC samples. Intervention studies in people with DS depend upon determining the optimal age for treatments to be given, by identifying or developing reliable outcome measures that are most sensitive to decline and discovering biomarkers most closely related to disease progression.
For tau deposition, the aim of this study is to ascertain the degree and distribution of tau pathology in DS as a function of age using tau PET, and to determine the longitudinal progression of that pathology. As such, enrichment of the study population included in the tau PET sub-study for presence of tau PET positive scans, and in particular tau PET scans in the earliest stages of positivity, is desirable. Accomplishing this may require flexibility in recruitment, including adjustments of age eligibility as a response to emerging new information in the sub-study population as the study proceeds. PET images will be reviewed in near real-time to enable adaption of the age strata based on the presence or absence of tau PET signal.
All the above endpoints will be acquired with informed consent and assent. All data is intended for research purposes only and associated clinical data will be stored securely.
Participants will have the option to participate in:
- LP to collect CSF and venipuncture to collect a blood sample OR
- Imaging (MRI and tau PET) and venipuncture to collect a blood sample OR
- Both
- LP to collect CSF and venipuncture to collect a blood sample AND
- Imaging (MRI and tau PET).
- Conditions
- Down Syndrome
- Being tested
- [18F]MK-6240
- Medical subject headings
- Down Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
[18F]MK-6240Biological
[18F]MK-6240 will be synthesized, purified, and formulated at the local radiochemistry synthesis laboratory and will be administered as a sterile, pyrogen-free solution by IV injection.
| Study group | Role | What they receive |
|---|---|---|
| Radiotracer [18F]MK-6240 | Other | In this sub-study, participants will have two [18F]MK-6240 tau PET scans. Participants will undergo administration of [18F]MK-6240 to detect the presence of tau in the brain. The applied [18F]MK-6240 radioactive dose will be approximately 5 mCi (185 MBq) ± 20%. The mass dose will not exceed 20 µg. This is the only arm. Receives: Biological: [18F]MK-6240 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Primary Outcome Measure to establish a biobank specifically for DS participants
CSF AD biomarkers measured longitudinally at approximately Month 0 and Month 16 or Month 16 and Month 32.
Establish a biobank specific to DS to receive, store and distribute biospecimens supporting future Omics, biomarker analyses, epigenetic studies, and genotyping. Biomarker candidates will be determined when the study ends and may include primary analytes such as AB42, AB40, AB42/40 ratio, t-tau, p-tau, NfL.
Evaluate prespecified CSF biomarkers using technically validated immunoassays on the Quanterix, Mesoscale and Abcam Fireplex Cytokine assay platforms. Biomarker candidates will be determined when the study ends and may include primary analytes such as AB42, AB40, AB42/40 ratio, sAPP, sAPPB, t-tau, p-tau, soluble-TREM2, NfL, GFAP, UCHL1, Tau.
Measured: Month 0 and Month 16 or Month 16 and Month 32
Primary Outcome to ascertain the degree and distribution of tau pathology in DS as a function of age using tau PET
Burden of total and regional tau deposition, relative to baseline, as measured by [18F]MK-6240 uptake. This outcome will provide information regarding:
Expected rates of change given baseline amyloid and tau burden, The sample sizes required to detect a reduction in the rate of accumulation at different stages of AD, and Homogeneity and heterogeneity in tau spatial distribution at different stages of AD progression.
Correlate the tau PET imaging data with the cognitive, behavioral, functional assessments and medical history data collected in the LIFE-DSR parent protocol to better establish the stage of AD for each participant.
Measured: Month 0 and Month 16 or Month 16 and Month 32
Secondary outcomes (1)
Secondary Outcome is to increase knowledge of biomarkers of interest in DS-AD clinical progression and perform deep immunophenotyping of PBMC and plasma samples.
The secondary outcome measures include changes relative to baseline compared to AD plasma biomarkers such as A42, A40, NfL, and p-tau 217 and genetic biomarkers of risk such as APOE
Conduct deep immunophenotyping of peripheral blood mononuclear cells (PBMCs)
Determine within-participant and between-participant variability of specific biomarker candidates in the plasma, PBMCs, CSF and CSF resident immune cells collected at two time points approximately 16 months apart.
Month 0 and Month 16 or Month 16 and Month 32
Measured: Month 0 and Month 16 or Month 16 and Month 32
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Mar 2025
- Study start27 Jun 2023
- Primary completion17 Apr 2024
- Study completion17 Apr 2024
Why it stopped: Unable to recruit
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Down SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 3
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- LuMind IDSC Foundation
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06860373
- Sponsor's protocol ID
- LIFE-DSR-BIO DS-AD
- Status last verified
- Jun 2024
- First submitted
- 22 Mar 2024
- Last updated
- 6 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- LIFE-DSR-Biomarker Sub-study of Biomarkers in Down Syndrome Related Alzheimer's Disease (DS-AD)
- ClinicalTrials.gov ID
- NCT06860373
- Acronym / sponsor ID
- LIFE-DSR-BIO DS-AD
- Conditions
- Down Syndrome
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: Unable to recruit
- Enrolment
- 5 participants (actual)
- Lead sponsor
- LuMind IDSC FoundationUniversity, hospital or other
- Study start
- 27 Jun 2023 (actual)
- Primary completion
- 17 Apr 2024 (actual)
- Study completion
- 17 Apr 2024 (actual)
- First posted
- 6 Mar 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is an optional sub-study that will enroll participants from the LIFE-DSR parent protocol. Participants will undergo assessments at two timepoints, including: additional blood samples for PBMC and RNA extraction, as well as a lumbar puncture for collection of CSF, and/or MRI and tau PET imaging. Sub-study visits will be scheduled around a similar calendar-day as the parent protocol study visits (e.g., Month (M) 0 (M0) and M16, or M16 and M32).
Detailed description
This is an optional sub-study that will enroll participants from the LIFE-DSR parent protocol. Participants will undergo assessments at two timepoints, including: additional blood samples for PBMC and RNA extraction, as well as a lumbar puncture for collection of CSF, and/or MRI and tau PET imaging. Sub-study visits will be scheduled around a similar calendar-day as the parent protocol study visits (e.g., Month (M) 0 (M0) and M16, or M16 and M32).
The aim is to increase knowledge of biomarkers of interest in DS-AD clinical progression and perform deep immunophenotyping of PBMC samples. Intervention studies in people with DS depend upon determining the optimal age for treatments to be given, by identifying or developing reliable outcome measures that are most sensitive to decline and discovering biomarkers most closely related to disease progression.
For tau deposition, the aim of this study is to ascertain the degree and distribution of tau pathology in DS as a function of age using tau PET, and to determine the longitudinal progression of that pathology. As such, enrichment of the study population included in the tau PET sub-study for presence of tau PET positive scans, and in particular tau PET scans in the earliest stages of positivity, is desirable. Accomplishing this may require flexibility in recruitment, including adjustments of age eligibility as a response to emerging new information in the sub-study population as the study proceeds. PET images will be reviewed in near real-time to enable adaption of the age strata based on the presence or absence of tau PET signal.
All the above endpoints will be acquired with informed consent and assent. All data is intended for research purposes only and associated clinical data will be stored securely.
Participants will have the option to participate in:
- LP to collect CSF and venipuncture to collect a blood sample OR
- Imaging (MRI and tau PET) and venipuncture to collect a blood sample OR
- Both
- LP to collect CSF and venipuncture to collect a blood sample AND
- Imaging (MRI and tau PET).
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Radiotracer [18F]MK-6240 | Other | Biological: [18F]MK-6240In this sub-study, participants will have two [18F]MK-6240 tau PET scans. Participants will undergo administration of [18F]MK-6240 to detect the presence of tau in the brain. The applied [18F]MK-6240 radioactive dose will be approximately 5 mCi (185 MBq) ± 20%. The mass dose will not exceed 20 µg. This is the only arm. |
Who may qualify
- Ages
- 35 to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (5 listed)
- The participant must be currently enrolled in the LIFE-DSR parent protocol.
- The adult with DS must be age 35 to 55 years.
- Both the participant, or LAR, and their caregiver must be able to understand and be willing to provide consent. The LAR will sign the informed consent. The participant will sign the informed consent or assent.
- Both the participant, or LAR, and their caregiver must be willing to comply with the scheduled visits and scheduled assessments.
- Agreement of caregiver and clinician the participant can cooperate with protocol tasks.
Key exclusion criteria (13 listed)
- Participants meeting any of these criteria are excluded from the LP portion of the sub-study.
- Assessment (per medical history, physical exam, vital signs or other clinically relevant measure or circumstance) which, in the opinion of the site PI, makes the participant unsuitable for participation in this study.
- Evidence for raised intracranial pressure. Examples include papilledema on physical exam or CNS lesion with mass effect.
- Presence of lower spinal malformations, prior lumbosacral spinal surgery, local infection, or other abnormalities that would exclude lumbar puncture.
- Allergy to Lidocaine (xylocaine) or its derivatives.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| [18F]MK-6240[18F]MK-6240 will be synthesized, purified, and formulated at the local radiochemistry synthesis laboratory and will be administered as a sterile, pyrogen-free solution by IV injection. | Biological | Radiotracer [18F]MK-6240 |
Primary outcome
Primary Outcome Measure to establish a biobank specifically for DS participants
Time frame: Month 0 and Month 16 or Month 16 and Month 32
CSF AD biomarkers measured longitudinally at approximately Month 0 and Month 16 or Month 16 and Month 32. Establish a biobank specific to DS to receive, store and distribute biospecimens supporting future Omics, biomarker analyses, epigenetic studies, and genotyping. Biomarker candidates will be determined when the study ends and may include primary analytes such as AB42, AB40, AB42/40 ratio, t-tau, p-tau, NfL. Evaluate prespecified CSF biomarkers using technically validated immunoassays on the Quanterix, Mesoscale and Abcam Fireplex Cytokine assay platforms. Biomarker candidates will be determined when the study ends and may include primary analytes such as AB42, AB40, AB42/40 ratio, sAPP, sAPPB, t-tau, p-tau, soluble-TREM2, NfL, GFAP, UCHL1, Tau.
Primary Outcome to ascertain the degree and distribution of tau pathology in DS as a function of age using tau PET
Time frame: Month 0 and Month 16 or Month 16 and Month 32
Burden of total and regional tau deposition, relative to baseline, as measured by [18F]MK-6240 uptake. This outcome will provide information regarding: Expected rates of change given baseline amyloid and tau burden, The sample sizes required to detect a reduction in the rate of accumulation at different stages of AD, and Homogeneity and heterogeneity in tau spatial distribution at different stages of AD progression. Correlate the tau PET imaging data with the cognitive, behavioral, functional assessments and medical history data collected in the LIFE-DSR parent protocol to better establish the stage of AD for each participant.
1 secondary outcome
Secondary Outcome is to increase knowledge of biomarkers of interest in DS-AD clinical progression and perform deep immunophenotyping of PBMC and plasma samples.
Time frame: Month 0 and Month 16 or Month 16 and Month 32
Results and safety
The study was stopped early (reason given: Unable to recruit). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2025.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing [18F]MK-6240 in people with Down Syndrome, run by LuMind IDSC Foundation at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 6 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study was stopped early (reason given: Unable to recruit). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Primary Outcome Measure to establish a biobank specifically for DS participants (time frame: Month 0 and Month 16 or Month 16 and Month 32). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Mar 2025.