A Study to Develop A Family Registry to Collect Alzheimer's Biomarkers

Overview

Información sobre este estudio

The overall purpose of this research is to understand how ADAD develops in order to eventually provide treatments for this disorder. Each biological child of a person with an ADAD mutation has a 50% risk of inheriting the mutation, and thus of developing ADAD. This study will develop a registry of families with a known ADAD mutation and will collect, analyze and bank data, tissue, and brain images from the members who participate in the DIAN research study. The data and tissue collected are available to all qualified researchers who wish to determine what changes occur before and after ADAD symptoms start. This understanding may lead to better tests and treatments for ADAD.

 

Elegibilidad para la participación

Los requisitos de elegibilidad de los participantes incluyen la edad, el sexo, el tipo y el estadio de la enfermedad, y los problemas de salud o tratamientos previos. Las pautas difieren de un estudio a otro e identifican quiénes pueden o no pueden participar. No hay garantía de que cada persona elegible que desee participar en un ensayo se inscribirá. Comunícate con el equipo del estudio para analizar la elegibilidad del estudio y la posible participación.

Inclusion Criteria:

  • Written informed consent obtained from the participant and collateral source prior to any study-related procedures.
  • Participant is aged > 18 inclusive and the child of an affected individual (clinically or by testing) in a pedigree with a known mutation for ADAD.
  • Participant is cognitively normal.  Year 12 through Year 16 priority will be given to asymptomatic adult children who are more than 15 years younger than the estimated age of symptom onset.  Enrollment of new participants with very mild, mild, or moderate cognitive impairment is allowed only with prior approval of the DIAN Coordinating Center. 
  • Participant has identified two persons who are not their full-blooded siblings who can serve as collateral sources for the study.
  • Participant is fluent in a language approved by the DIAN Coordinating Center at about the 6th grade level (international equivalent) or above.
  • Patients with Dutch mutation are eligible to enroll in DIAN, because, although data and tissue collected from these participants will not directly contribute to DIAN analyses, this data/tissue will be useful in other analyses. Beginning January 1, 2019, DIAN will cover the cost of only core operations required to complete the visits (i.e., maintaining databases, DIAN supplies, shipping costs, etc.). Sites are responsible for self-funding all other aspects of Dutch mutation visits  (i.e., travel, scans, etc.).
  • In order to manage potential safety issues (radiation), participant burden (multiple LPs) and scientific integrity (overlapping psychometrics) issues, DIAN Administration and Clinical Cores must be notified in advance of DIAN participants’ enrollment in other research studies.

Exclusion Criteria:

  • Participant has a medical or psychiatric illness that would interfere in completing initial and follow-up assessments.
  • Participant has advanced cognitive impairment requiring nursing home-level care. Enrollment of an individual with cognitive impairment must be pre-approved by the DIAN Coordinating.

Sedes participantes de Mayo Clinic

Los estatus de los estudios cambian con frecuencia. Comunícate con el equipo del estudio para obtener la información más actualizada acerca de la posibilidad de participar.

Sede de Mayo Clinic Estatus Contacto

Jacksonville, Fla.

Investigador principal de Mayo Clinic

Gregory Day, M.D.

Abierto para la inscripción

Contact information:

Sochenda Stephens CCRP

Stephens.Sochenda@mayo.edu

More information

Publicaciones

  • To investigate the ability of cerebrospinal fluid (CSF) and plasma measures to discriminate early-stage Alzheimer disease (AD) (defined by clinical criteria and presence/absence of brain amyloid) from nondemented aging and to assess whether these biomarkers can predict future dementia in cognitively normal individuals. Read More on PubMed
  • Beta-amyloid (Abeta) plaques are the hallmark of Alzheimer disease (AD). A PET imaging tracer that binds to Abeta plaques in vivo, N-methyl-[(11)C]2-(4'-methylaminophenyl)-6-hydroxybenzothiazole (or [(11)C]PIB for "Pittsburgh Compound-B"), has significantly higher binding in subjects diagnosed with dementia of the Alzheimer type (DAT) compared to nondemented controls. The authors used this imaging technique to investigate whether abnormal binding occurs in clinically normal individuals, prior to the development of cognitive changes. Read More on PubMed
  • To understand the earliest signs of cognitive decline caused by Alzheimer disease (AD) and other illnesses causing dementia, information is needed from well-characterized individuals without dementia studied longitudinally until autopsy. Read More on PubMed
  • Detailed study of the very earliest phases of Alzheimer's disease (AD) is seldom possible, especially those changes preceding the development of mild cognitive impairment (MCI), which may occur years before diagnosis. Knowledge of imaging and neuropsychological features of these early stages would add insight into this poorly understood phase of the disease. We present data from a subject who entered a longitudinal study of individuals at risk of familial Alzheimer's disease (FAD), as a healthy volunteer with no memory complaints, undergoing 12 assessments between 1992 and 2003. Longitudinal MRI, neuropsychological and clinical data are presented over the decade preceding this man's diagnosis, through the asymptomatic and prodromal preludes to his presentation with MCI and on to eventual conversion to AD. Read More on PubMed
  • We compare clinicopathologic data from 10 subjects identified in the very mild stage of senile dementia of the Alzheimer type with findings from similar studies in four cognitively normal subjects. We based the diagnosis of very mild dementia in the 10 subjects on informant reports and the judgment of experienced clinicians. Deficits of some psychometric measures of memory, language, and speeded psychomotor performance were observed for these subjects. The histologic markers of Alzheimer's disease, including neurofibrillary tangles and both the "diffuse" and classic subtypes of senile plaques, were present in the neocortex in all 10 subjects but essentially were absent in the four controls. These findings indicate that even "questionable" dementia can be diagnostic for Alzheimer's disease. Furthermore, because truly normal aging may be unaccompanied by neocortical senile plaques and neurofibrillary tangles, the presence of these lesions should suggest the possibility of clinically undetected Alzheimer's disease. Read More on PubMed