From October 3rd through October 7th, Cure SMA attended the 22nd International Annual Congress of the World Muscle Society (WMS) in Saint Malo, France. WMS is the premier annual congress on neuromuscular disorders, attended by established and young physicians, researchers, therapists and neuropathologists from all over the world.
Cure SMA presented an overview of their patient provided data database. The Cure SMA database is the largest SMA patient reported database in the world with over 7,000 individuals affected with SMA recorded. Between January 1, 2010 and December 31, 2016 there were 1,967 individuals in the database from the US and internationally having type I (52%), type II (32%) or type III (16%). The average age of diagnosis was 5.5 months for type I, 22.6 months for type II, and 97.8 months for type III. The median survival for individuals with type I was 14 months.
Cure SMA also presented patient and parent-reported health-related quality of life (HRQoL) results from the first annual Community Membership Survey. HRQoL was assessed by the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales, the PedsQL 3.0 Neuromuscular Module (NM) and the PedsQL Family Impact Module (FIM) through the parents’ point of view and adults affected with SMA. The differences in the QoL on the NM scale were statistically significant across SMA types among parents with the lowest QoL scores for type I and the highest QoL scores for type III. The FIM scores showed a similar trend with families reporting the lowest QoL scores for type I and the highest scores for type III. The second annual Community Membership Survey will be sent out to be completed in early 2018.
Clinical Trial Data
Cure SMA pharmaceutical partners AveXis and Biogen also presented data from their recent clinical trials at the WMS meeting. More information on AveXis’s Phase 1 data and Biogen’s Phase 3 Endear data can be found in the recent New England Journal of Medicine publications.
In addition, Biogen also presented data from two Phase 2 trials: Nurture, which tested Spinraza in presymptomatic infants, and Embrace, which tested Spinraza in children who were not eligible for Endear or Cherish.
At the time of the analysis, all infants in NURTURE were alive and none had required respiratory intervention. Nine infants completed the day 365 assessment with three (33%) infants achieving all HINE motor milestones expected for age. All infants (9/9) achieved the WHO (World Health Organization) motor milestones for sitting. These results highlights the need for, and advantage of, screening newborn infants for SMA.
In the EMBRACE study, a greater proportion of nusinersen-treated individuals achieved HINE milestones than the sham-treated arm over the course of the 14-month study.
More information on this data can be found here: http://media.biogen.com/press-release/investor-relations/new-data-presented-world-muscle-society-congress-support-potential-
Roche presented the interim analysis of data from Part I of the SUNFISH trial of the orally administered RG7916 in patients with type II or III SMA. This study enrolled 5 cohorts of patients ages 2-24 (n=51). The analysis on the first 4 cohorts showed that patients treated with RG7916 for 28 days had an exposure-dependent increase in the SMN protein, a median 2.5-fold increase of the SMN protein was observed.
Other SMA Presentations
In addition to the clinical trial data presented, several SMA posters were presented. A few examples of these posters are as follows: A poster presented by the Hospital Sant Joan de Déu in Barcelona, Spain described the natural history of 84 patients with SMA type II or type III. The mean age of onset for type II was 9 months and 2.35 years for type III. Another poster presented by the Dubowitz Neuromuscular Center in London described a cohort of patients (n=62) with type II that had a mean age of onset at 10.6 months. Lastly, a poster presented by the SMA Family Foundation and Russian Children Neuromuscular Center described an ongoing SMA registry that to date contains 370 patients with SMA.
Cure SMA is very grateful for all the SMA research and collaboration presented at WMS by physicians and scientific experts.