The 19th International SMA Researcher Meeting was recently held by Cure SMA in Kansas City, Missouri (June 18-20, 2015). Cure SMA announced that summaries from the 2015 meeting will be available showing the most relevant developments and findings presented at the meeting.
SMA (spinal muscular atrophy) is a rare, devastating motor neuron disease and one of the leading genetic causes of pediatric mortality, occurring in approximately 1 in every 6,000 to 10,000 newborns. It is characterized by the degeneration of nerves controlling muscles and voluntary movement, resulting in muscle weakness, atrophy, paralysis and eventually death. SMA is the result of a mutation or deletion in a gene called survival of motor neuron 1 (SMN1). Currently, SMA has no approved treatment.
One of the Cure SMA summaries recently released refers to a session on clinical research. One of the presentations focused on a project between Cure SMA, the SMA Foundation and Biogen with the goal of exploring the experiences lived by patients and families coping with SMA. Four main topics were reported. The first was the diagnostic journey, referring to the time it generally took for a proper diagnosis to be made. Three major factors were found to contribute to this delayed SMA diagnosis: the lack of awareness and knowledge about the disease, the difficulty in classifying an abnormal development in infants, and the challenge of a differential diagnosis, referring to the process of distinguishing SMA from other similar medical conditions.
Another topic was newborn screening and the observation that parents are in general positive about the idea of including SMA in newborn screening panels. The third topic referred to the psychosocial impact of living with SMA, where certain themes were found to be especially relevant like premature death risk, difficult treatment choices, stigma and the loss of functional ability, among others. At last, the fourth topic referred to meaningful change, particularly in scales used to assess motor function in SMA patients.
The second presentation focused on SMA disease burden as identified by the patients. In total, 176 potential relevant symptoms were identified by adult SMA participants, including the difficulty in performing personal hygiene activities and dressing, impaired walking, arm weakness, decreased independence and subsequent increased dependence on family members.
The two final presentations of the session were centered on natural history studies to better understand SMA disease. The first one assessed ambulant and non-ambulant SMA patients in order to determine possible patterns of disease progression and associated risk factors such as age. The final one focused on preliminary results from the ongoing NeuroNEXT SMA infant biomarker study whose goal is to assess the natural history and biomarkers in infants with SMA and healthy infants (control group). So far the study showed that SMA infants already exhibit significant reductions in motor function and that electrical impedance myography (EIM) represents a non-invasive technique for the assessment of muscle health capable of discriminating between SMA and healthy infants. EIM is therefore suggested as a relevant tool for a timely, accurate SMA diagnosis at an early age.
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