2018 SMA Researcher Meeting Summary: Clinical Research Studies for SMA

The SMA Researcher Meeting is the largest research meeting in the world specifically focused on SMA and seeks to create open communication of early, unpublished data to accelerate the pace of research. The meeting also furthers research by building collaborations—including cross-disciplinary dialogue, partnerships, integration of new researchers and drug companies, and educational opportunities for junior researchers. This year, 530 researchers attended the meeting—a record number!

To highlight the most interesting new discoveries presented, we’ll be posting a series of summaries from the 2018 SMA Researcher Meeting. This update covers the session “Clinical Research Studies for SMA”, moderated by Dr. Tom Crawford, MD.

The first talks of the session were focused on newborn screening for SMA. To begin, Dr. Francis Lee, PhD, described the status of newborn screening (NBS) for SMA in the United States, highlighting the development of a test by the CDC to be used for SMA NBS. This test can be run at the same test as the only other DNA based NBS test, SCID, minimizing increases in material and labor costs. Following Dr. Lee, Dr. Kathryn Swoboda, MD, talked about the utilization of the Newborn Screening Translational Research Network (NBSTRN): Project Cure SMA Longitudinal Pediatric Data Repository (LPDR). The goal of the NBSTRN: LPDR is to provide data with which to assess the overall impact of new therapies on outcomes in SMA patients across a range of phenotypes and genotypes. Next, Dr. Jackie Glascock, PhD, described the development of a treatment algorithm for infants diagnosed with SMA through NBS. The treatment algorithm, developed by a working group of 15 SMA experts, describes guidelines for the treatment of infants identified via NBS based on their SMN2 copy number.

Dr. Mary Schroth, MD, gave a presentation about the development of the Cure SMA Clinical Care Center Network and SMA Clinical Data Registry which utilize electronic transfer of Electronic Health Records to generate evidence to guide clinical care, therapeutic development, and new treatment delivery. Next, Dr. Amy Pasternak, DPT, discussed her work in which she determined that caregiver-reported measures, like the PEDI-CAT, accurately reflect the patient’s functional ability and are needed in SMA. Furthermore, she demonstrated strong associations between PEDI-CAT scores and other measures of motor function indicating that the PEDI-CAT is a good predicator of patient motor abilities. Ashley Goodwin explained her work evaluating the published normative data for the six-minute walk test (6MWT). She demonstrated that the available normative data may not be applicable for SMA patients being evaluated in specialty clinics and that optimal normative reference values for use in SMA remain unclear and warrant further examination. Dr. Sally Dunaway Young, DPT, talked about her work assessing the impact of scoliosis severity in SMA on motor function. She explained that there is an inverse relationship between scoliosis severity and score on motor function assessments. The last talk of the session given by Dr. Grazia Zappa, PhD, was about cognitive development in children with SMA type 1 using an augmentative alternative communication (AAC) device. Dr. Zappa demonstrated that the use of an AAC device improves quality of life for both the patient and his or her family and that it results in acquisition of a higher IQ and better language comprehension, independent of motor ability.

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