ACF has been contacted by Dr. Nicholas Davidson from Washington University School of Medicine to help him and Dr. Rick Blumberg from Boston recruit one or two adult individuals with Abetalipoproteinemia for a research study.  They are interested in looking at some of the non-traditional functions of Mttp, specifically the role of this lipid transfer protein in antigen presentation.  In order to be involved in this study, the individual with Abetalipoproteinemia needs to be:

1. At least 21 years of age.
2. Able to have about 80-100 cc of blood drawn and sent at room temperature to be received in Boston within 24 hours.
3. Be otherwise healthy.
4. On no medications that would interfere with the assays (no antibiotics, steroid or other immune suppressive medication).
5. Preferably have had DNA studies done and know the genetic mutation that they have – if this has not been done, DNA testing could be done as part of the research project.

All costs (including the blood draw and shipping) would be paid by the research project.  Since the timing between the blood draw and the lab receiving it is so crucial, it probably means that the individual with Abetalipoproteinemia would need to live within the US.  If you are interested and believe that you meet the criteria outlined, please email shelly.rudnick@abetalipoproteinemia.org for further information.