Study of Genetic Alzheimer's Disease Mutation Carriers in Preclinical Stages of the Disease 18F-Florbetaben Positron Emission Tomography Study

Study Overview
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Brief Summary
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The main purpose of the study is to assess safety of a single dose of FBB followed by PET scan in individuals at risk of genetic Alzheimer's disease.

Official Title
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Study of Genetic Alzheimer's Disease Mutation Carriers in Preclinical Stages of the Disease: 18F-Florbetaben Positron Emission Tomography Study

Conditions
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Alzheimer Disease

Intervention / Treatment
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* Radiation: Florbetaben


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Adult children (> 18 yo) of genetic Alzheimer?s disease patients with a known mutation in PSEN1, APP o PSEN2 genes and who are either cognitively normal (CDR=0) or have mild symptoms of cognitive decline (CDR 0.5 or 1) According to the principal investigator, participants must be committed to participate and complete all study procedures. Has signed the Informed Consent Form voluntarily to participate in the study Exclusion Criteria: Subjects that are not able to complete the study. Any major disease or history of a major disease, especially hepatobilliar disease (AST /ALT ? 5 x ULN) or advanced renal insufficiency (creatinine ? 2 x ULN) Current or previous history of alcohol abuse or epilepsy Allergic to Florbetaben or any of its constituents Multiple drug allergies and/or previous history of contrast allergy. Pregnancy or breast feeding or planned pregnancy during the study period Any disease or history of disease which, in the opinion of the investigator, can cause disturbance of brain function (e.g. vitamin B12 or folic acid deficiency, disturbed thyroid function) Evidence for any other neurological or psychiatric disease

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Active Comparator: mutation carrier<br> | Radiation: Florbetaben<br>* single dose of Florbetaben followed by PET scan<br>|
| Sham Comparator: mutation non-carrier<br> | Radiation: Florbetaben<br>* single dose of Florbetaben followed by PET scan<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Incidence of Adverse events of a single dose of FBB followed by PET scan in individuals at risk of genetic Alzheimer?s disease. |  | At baseline, when FBB-PET is performed. | 
| Proportion of FAD mutation carriers that present positive uptake after FBB-PET through visual examination |  | At baseline, when FBB-PET is performed. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Proportion of FAD mutation carriers presenting standardized uptake value ratios (SUVRs) of FBB-PET higher than 1,4. |  | baseline | 
| Areas of significant difference (p<0,05) in regional SUVR between FAD mutation carriers and non-carriers. |  | baseline | 
| Earliest age of positive FBB-PET in FAD mutation carriers. |  | baseline | 
| Individual cortical areas with positive amyloid deposition at visual or semi-quantitative assessment |  | baseline |