Cholinergic Integrity in Down Syndrome and Aging

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This Phase 2 interventional study uses the [18F]-FEOBV PET tracer to measure cholinergic system integrity in adults with Down syndrome. Researchers will collect molecular, functional, and structural biomarker data to see how cholinergic neurons change with age and relate these changes to cognitive and behavioral measures. The goal is to identify patterns that could inform future risk stratification for Alzheimer's disease in DS and guide subsequent prevention or intervention trials. The study is conducted at Vanderbilt University Medical Center with collaboration from the Vanderbilt Kennedy Center, the Alzheimer's Association, and Fondation Jérôme Lejeune.

Why it matters

Who can join: the full rules

Inclusion Criteria:

1. Diagnosis of Down syndrome (DS), including mosaic DS or partial trisomy 21.
2. Provision of signed and dated informed consent form and if needed, assent with signed consent by a legally authorized representative (LAR).
3. Stated willingness to comply with all study procedures and availability for the duration of the study
4. Male or female, aged 18-55 inclusive.
5. In good general health as evidenced by medical history with no diagnosis of dementia.
6. Permitted CNS-active medications, stable in dose for at least 4 weeks or longer. If new medications have been started, the medical monitoring team will review on case-by-case basis to recommend timing of baseline cognitive testing
7. Adequate visual and auditory acuity to allow neuropsychological testing
8. For females who are not surgically sterile or post-menopausal by two years: negative pregnancy test 24 hours prior to PET scan.
9. Mental Age of 4 years or greater (based upon the Kaufman Brief Intelligence Test, 2nd Edition)
10. English must be first/native language
11. Reliable Study Partner (may be caregiver, sibling, parent) who can provide information about the subject's clinical symptoms and history

Exclusion Criteria:

1. Any significant disease or unstable medical condition that could affect neuropsychological testing (i.e., unstable cardiac problems, chronic renal failure, chronic hepatic disease, severe pulmonary disease)
2. Participants in whom magnetic resonance imaging (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)
3. Participants unable to complete MRI and PET procedures
4. IQ less than 40 (as assessed by Kaufman Brief Intelligence Test, Second Edition (KBIT-2).
5. Pregnancy, breast-feeding
6. History within the last 5 years of a primary or recurrent malignant disease with the exception of non-melanoma skin cancers, resected cutaneous squamous cell carcinoma in situ, basal cell carcinoma, cervical carcinoma in situ, or in situ prostate cancer with normal prostate-specific antigen post-treatment
7. Clinically significant abnormalities in B12 or TFTs that might interfere with the study. A low B12 is exclusionary unless follow-up labs (homocysteine (HC) and methylmalonic acid (MMA)) indicate that it is not physiologically significant. A high TSH is exclusionary unless follow-up T3/T4 levels indicate that it is not physiologically significant.
8. Clinically significant abnormalities in screening laboratories
9. For participants undergoing CSF collection: a current blood clotting or bleeding disorder, or significantly abnormal PT or PTT at screening or if on anti-coagulation (e.g warfarin)
10. Participants whom the Site PI deems to be otherwise ineligible
11. Clinical diagnosis of dementia
12. Concurrent participation in a clinical trial for an investigational product or concurrent participation in a longitudinal study with overlapping outcome measures/procedures is prohibited

Where it's running

• Vanderbilt University Medical Center Clinical Research Center
  Nashville, Tennessee, United States Recruiting

Study contacts

• Principal investigator: Alexander C Conley, Ph.D. — Vanderbilt University Medical Center
• Study coordinator: Kiara Baker
• Email: Kiara.Baker@vumc.org
• Phone: 615-327-7117

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.