Abstract Details

Title Risdiplam: Therapeutic Effects and Tolerability in a Small Cohort of 6 Adult Type 2 and Type 3 SMA Patients

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P11 - Poster Session 11 (8:00 AM-9:00 AM)

Poster/Presentation
Number 11-018

Objective To describe the effect of Risdiplam on a cohort of 6 adult SMA patients using Motor Function Measure (MFM32) score as standardized scale to quantify motor improvements induced by therapy.

Background Risdiplam is a validated treatment for adult SMA patients. To date there is a lack of clear guidelines concerning functional assessment at baseline and during the follow-up, especially in terms of sensible and validated outcome measure able to capture minimal changes in motor performances induced by therapy.

Design/Methods

We included six patients (4F;2M) with SMA type 2 (N=4) and non ambulant SMA type 3 (N=2) aged 21-65 years (mean age of 40.5 years). At baseline all patients received: i) a neuromuscular evaluation focusing on residual motor abilities and MRC muscle testing; ii) motor performance status was evaluated by an expert physiotherapist (CAI) using Motor Function Measurement 32 (MFM32). After starting Risdiplam we evaluated neuromuscular assessment; ii) MFM32 with clinically significant improvement considered as a score >3% compared to the baseline iii) patients reported outcomes (PROs) and side effects. The mean period of follow-up is 16 months, ranging 7-27 months.

Results MFM32 showed an increased score ranging from +2.16% to +7.29% in 4 patients. The improvement was maintained overtime, with two patients presenting the
longest follow-up period of 24 and 27 months respectively. Subdomain D3 was ameliorated in 66.6% of patients. Two patients previously treated with Nusinersen maintained the pre-Risdiplam scores. All patients reported subjective ameliorations. The commonest PROs were improvements in breath fatigue, voice’s intelligibility, hand strength and dexterity. Adverse effects were mild and decreased over time.

Conclusions Risdiplam was well -tolerated and resulted in improvement or stabilization of motor functions. MFM32 proved to be sensitive to detect changes induced by therapy. Subjective meaningful improvements were sustained overtime especially in bulbar functions, breath fatigue and distal motor abilities.

Authors/Disclosures
Edoardo Malfatti, MD (APHP, Inserm U955, Université Paris Est) PRESENTER	Dr. Malfatti has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Spark therapeutics. Dr. Malfatti has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. The institution of Dr. Malfatti has received research support from AFM. The institution of Dr. Malfatti has received research support from Spark Therapeutics. The institution of Dr. Malfatti has received research support from AFM. The institution of Dr. Malfatti has received research support from ANR.
Gianmarco Severa, MD	Dr. Severa has received research support from Généthon, UPEC.
Christophe Alimi, PT	Mr. Alimi has nothing to disclose.

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