Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.

The aim of this retrospective study was to establish the range of functional changes at 12 and 24-month in 267 type 2 Spinal Muscular Atrophy (SMA) patients with multiple assessments. We included 652 Hammersmith Functional Motor Scale Expanded (HFMSE) assessments at 12 month- and 305 at 24 month- intervals. The cohort was subdivided by functional level, Survival of Motor Neuron copy number and age. Stable scores (± 2 points) were found in 68% at 12 months and in 55% at 24 months. A decrease ≥2 points was found in 21% at 12 months and in 35% at 24 months. An increase ≥2 points was found in 11% at 12 months and 9.5% at 24 months. The risk of losing ≥2 points increased with age and HFMSE score at baseline both at 12 and 24-month. For each additional HFMSE point at baseline, the relative risk of a >2 point decline at 12 months increases by 5% before age 5 years (p = 0.023), by 8% between 5 and 13 (p<0.001) and by 26% after 13 years (p = 0.003). The combination of age and HFMSE scores at baseline increased the ability to predict progression in type 2 SMA.

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Déclaration de conflit d'intérêts

Authors and ISMAC group Declaration of Competing Interest GC, RDS, JM, ESM, AM, AMG, SDY, RS, MP, SM, ADA, EA, BTD, EB, VAS, JD, FM, DCDV, RF, EM reports personal fees as consultant, PI or member on advisory board form BIOGEN S.R.L. outside the submitted work, GC, MCP, JM, ESM, AM, AMG, SDY, MS, BTD, EB, JD, FM, FB, DCDV, RF, EM reports personal fees consultant, PI or member on advisory board from ROCHE, GC reports personal fees GENESIS PHARMA and Biologix as consultant outside the submitted work, GC, RDS, ESM, AM, AMG, RS, MP, SM, BTD, EB, VAS, JD, FM, DCDV, RF, EM reports personal fees consultant, PI or member on advisory board form AVEXIS outside the submitted work, AP, SDY, RS reports personal fees from as grant SMA FOUNDATION outside the submitted work, ESM, SDY, EM report personal fees consultant, PI or member on advisory board from SCHOLAR ROCK outside the submitted work, MS reports personal fees as CO-PI from SMA REACH UK outside the submitted work, ADA, JD, RF reports personal fee as consultant, PI or member on advisory board from NOVARTIS outside the submitted work, SL, JEE, SC, EM, LA, AF, MVDH, FS, CMB, MC, RML, MM, MS, GV, TD, NG, ANO, have nothing to disclose. All authors from Italy, UK and US are part of institutions that receive funding from Biogen for a SMA disease registry (ISMAR)