This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.Research Question: Which outcome measures can be used to reliably assess changes in SMA disease over time? My hypothesis is that without a therapy during this interval, there should be little change and thus assessment test-retest stability that will provide a measure of measurement error.The experimental design is an unblinded, prospective study monitoring change in motor function, ulnar nerve compound muscle action potential (CMAP), morphometric measures, pulmonary function testing, bone density changes, and the relationship of SMN protein and messenger RNA to SMN2 copy number over 6 months with 3 visits. We will determine the reliability of the Hammersmith SMA Functional Motor Scale, and CMAP testing, and the stability of DEXA scanning, pulmonary function testing and SMN mRNA and protein.Our focus and priority has been enrollment on our multi-center phase II trial of valproic acid and carnitine in patients with Spinal Muscular Atrophy (SMA CARNI-VAL Trial, SPID 0543) although we enrolled concurrently in both studies. No further subject accrual will occur on this study with our efforts being focused on the remaining CARNI-VAL visits with completion anticipated in November 2007.Two subjects were enrolled on this study with the final visit on the second subject occurring on 12/04/06 (last GCRC visit was 12/04/06). No other subjects will be enrolled in this project at our site; however, recruitment continues at other participating sites. Data analysis will continue with results and/or possible conclusions occurring at a later date.
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