National Amyotrophic Lateral Sclerosis (ALS) Biorepository Feasibility Study (P5.094)

Objective: Determine the feasibility of developing a biorepository linked to the National ALS Registry. Background: To enhance the National ALS Registry, the Agency for Toxic Substances and Disease Registry (ATSDR) coordinated a pilot study to find the best way to collect and store biological samples for future ALS related research. Design/Methods: This study included two specimen collection components: 1) in-home collection of blood, urine, hair, and nail, on two occasions approximately six months apart; and 2) postmortem collection of brain, spinal cord, CSF, bone, muscle, and skin; participants could do both. The combination of these components allows a thorough evaluation of the challenges associated with assembling a national, population-based biorepository. Eligible participants must have enrolled in the National ALS Registry and consented to be contacted about research projects. Results: Three hundred and thirty-nine people consented from all 50 states to donate biological specimens and 330 provided specimens at least once. Approximately 18[percnt] of participants did not complete the second draw due mostly to death and illness. Participants’ ages ranged from 31-87 years and 60[percnt] were male. Fifty-four percent of participants lived 50 or more miles from an ALS specialty/referral center. Thirty people consented to postmortem tissue donation from 18 states. Fifteen donations have been completed. The first 11 cases all showed neuropathologically-confirmed ALS with TDP-43 inclusions with a mean age of 66 years (range: 43-76), 55[percnt] female, and mean brain weight of 1260g. The average length of time from study consent to death was eight months. Discussion/Conclusions: Creating a geographically diverse biorepository has unique challenges. However, based on expert input, ATSDR determined that it is feasible to incorporate a biorepository into the National ALS Registry. These specimens will be a valuable resource for researchers who will be able to request specimens for ALS studies. Study Supported by: ATSDR contract #200-2011-40830 Disclosure: Dr. Kaye has received personal compensation for activities with McKing Consulting Corporation as an employee. Ms. Wagner has received personal compensation for activities with McKing Consulting Corporation as an employee. Dr. Stein has nothing to disclose. Dr. Mehta has nothing to disclose.