Where to Turn for Research: Human Studies of eFAD

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Washington University, St. Louis, Missouri

Summary
The Familial Adult Children Study (FACS) is an observational study to observe the presymptomatic stages of disease development. It invites all adult volunteers in families who have an autosomal-dominant inheritance pattern of AD, i.e., disease in one parent passed on at 50 percent risk. This typically, but not always, means an early onset. Families in whom a mutation is identified can enter the FACS study. Those in whom a mutation can't be found right away are also welcome at WashU; they can enter a FAD genetics study led by Dr. Alison Goate until their gene is found. Then they can enter the FACS study.

Study Leaders/Contacts
Randall Bateman, M.D. 
Website: http://www.neuro.wustl.edu/people/bateman.html 
E-mail: batemanr@neuro.wustl.edu 
Website: http://facs.wustl.edu 
Website: http://alzheimer.wustl.edu 
Paging Operator: 314-362-1242 
Clinic Phone: 314-286-1967

Research Contact: Wendy Sigurdson, RN 
Phone: 314-362-2256 
Fax: 314-362-2244 
Washington University School of Medicine 
660 South Euclid 
Campus Box 8111 
St. Louis, MO 63110 
Lab: 314-747-7066; 314-294-1178

Procedures
The FACS study offers a comprehensive evaluation and collects data on a wide range of tests. WashU study coordinators schedule the tests in one continuous 4- to 5-day series to ease the burden of repeated travel and time off work. During this week, the family can obtain these procedures:

  • Blood draws to screen for known mutations causing AD.
  • Genetic counseling to learn about FAD and make an informed choice.
  • Clinical-grade genetic testing if the study participant chooses it after counseling.
  • Extensive cerebrospinal fluid (CSF) research. In addition to measuring a range of candidate biomarker proteins in CSF as done at other centers, this study offers a new techniquedeveloped at WashU and available only there. The study aims to measure how much of certain proteins a person's brain produces over time. The volunteer first receives an injection that labels the protein of interest, and then the neurologist inserts an epidural catheter like those used in childbirth anesthesia. The scientists take timed samples of spinal fluid for the next 36 hours, during which the volunteer is admitted to the hospital. This experiment aims to answer definitively a long-standing question in AD research, namely whether people with eFAD mutations get disease because their brain overproduces certain versions of the amyloid-β protein while underproducing other versions. Prior data in the blood, but not necessarily the brain, indicate as much, but it is either indirect or taken from single measurements that represent snapshots rather than continuous monitoring over a period of time. This part of the study is unique to WashU; interested families participating in studies elsewhere may want to ask their respective neurologist, or contact Dr. Bateman, to consider a referral for this study. All studies except for the 36-hour CSF study will be repeated at 3-year intervals after the first visit.
  • Blood draw for genetic analysis.
  • Two brain scans: MRI for structural data, PET-PIB imaging of amyloid deposition. No FDG PET, diffusion tensor imaging, MRS of brain metabolites at this time.
  • Clinical evaluation and neuropsychologic testing for early cognitive changes.
  • Memory and attention testing designed for participants younger than 60.

Family Support
The study arranges and pays for airfare and hotel for every volunteer plus an accompanying family member (e.g., spouse). The study offers some compensation for time off from work in that each major procedure pays out a separate stipend; inquire directly for details. Genetic counseling and, if requested, genetic testing are offered free of charge outside of health insurance. The study offers some follow-up after the study participants return home, and currently aims to obtain funding to support future visits. "Our goal is to build a structure that will enable the families to participate to the fullest extent that they wish. It is not just the right thing to do, but it is also important scientifically and medically," said Bateman. Interested families can contact Dr. Bateman to be put in touch with a family who is participating in this study and is willing to share its experience confidentially.