Maladies Neuromusculaires SOFMER / SFERHE /SFM

Le 15/10/2021 de 16:00 à 17:30

Retour Session


Etude longitudinale de cas uniques par thérapie oligonucléotidique : 2 patients SMA type III

Marie Massier (Reims, France), Tymothee Poitou (Reims, France), Charlotte Pineau (Reims, France), Charlène Benoit (Reims, France), Jean-Baptiste Ferte (Reims, France), Amandine Rapin (Reims, France), François-Constant Boyer (Reims, France)

Objective : The antisense oligonucleotide nusinersen is the first line treatment in spinal muscular atrophy (SMA) type I, II and III. Up to now, nusinersen is still under evaluation in adults SMA; no study versus group control were performed yet. In this report, the monthly follow-up of two adults SMA, during the first seven months of Nusinersen treatment, are compared to their previous baseline follow-up.

Material / Patients and Methods : In this retrospective observation study performed in Reims, from April 2019 to April 2021, we assessed the motor function of two SMA type III patients with different scales including the Motor Function Measure 32 (MFM) with 96 points being the highest score, indicating the best motor function. From April 2019 to September 2020, for both patients, ten evaluations were performed for baseline determination, before the treatment. From September 2020 to April 2021, patients received five doses of nusinersen and seven follow-up evaluations were carry out.

Results : The first person is an ambulant 45 years-old woman, the second is a wheelchair dependent 21 years-old man. Both have a stable baseline MFM scores, with an apparent increase of the mean score of respectively 9 points and 5 points, after the beginning of the treatment.

Discussion - Conclusion : Rigorous and repeatedly evaluations allowed to set the baseline of motor functions before therapy. These personalized baselines were used as reference for the assessment of nusinersen’s effect in these adults SMA. Mean MFM scores increased for both patients, however we need to continue monitoring patients’ motor function to assess long term impact of the treatment. 

Keywords : spinal muscular atrophy, Nusinersen,