Francesca Torri
Assessment of motor endurance in spinal muscular atrophy (EnduSMA protocol): one-year follow-up data of a multicenter cohort study
Autori
- ROBERTO CHIAPPINI (NEUROLOGY UNIT, DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF PISA, PISA – FISIOTERAPIA E RIABILITAZIONE )
- GIULIA RICCI (NEUROLOGY UNIT, DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF PISA, PISA – NEUROLOGIA)
- FRANCESCA TORRI (NEUROLOGY UNIT, DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF PISA, PISA – NEUROLOGIA)
- ALESSANDRA GOVONI (NEUROLOGY UNIT, DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF PISA, PISA; NEUROLOGY UNIT, FONDAZIONE IRCCS CA’ GRANDA, OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY – NEUROLOGIA)
- LAURA MANCA (DEPARTMENT OF MATHEMATICS, UNIVERSITY OF PISA, PISA, ITALY – STATISTICA MEDICA)
- GABRIELE VADI (NEUROLOGY UNIT, DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF PISA, PISA – NEUROLOGIA)
- STEFANO ROCCELLA (THE BIOROBOTICS INSTITUTE, SANT’ANNA SUPERIOR STUDIES SCHOOL, PISA, ITALY – INGEGNERIA BIOMEDICA)
- FRANCESCA MAGRI (NEUROLOGY UNIT, FONDAZIONE IRCCS CA’ GRANDA, OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY – NEUROLOGIA)
- MEGI MENERI (CENTRO CLINICO NEMO ANCONA, ANCONA – NEUROLOGIA)
- FEDERICA FASSINI (NEUROLOGY UNIT, FONDAZIONE IRCCS CA’ GRANDA, OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY – FISIOTERAPIA E RIABILITAZIONE)
- VERIA VACCHIANO (IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA, UOC CLINICA NEUROLOGICA, BOLOGNA, ITALY – NEUROLOGIA)
- SILVIA TOMASSINI (CENTRO CLINICO NEMO ANCONA, ANCONA – FISIOTERAPIA E RIABILITAZIONE)
- NOEMI GIRONELLA (CENTRO CLINICO NEMO ANCONA, ANCONA – TNPEE)
- MICHELA COCCIA (CENTRO CLINICO NEMO ANCONA, ANCONA – NEUROLOGIA)
- GIACOMO COMI (NEUROLOGY UNIT, FONDAZIONE IRCCS CA’ GRANDA, OSPEDALE MAGGIORE POLICLINICO, MILAN, ITALY – NEUROLOGIA)
- ROCCO LIGUORI (IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA, UOC CLINICA NEUROLOGICA, BOLOGNA, ITALY – NEUROLOGIA)
- GABRIELE SICILIANO (NEUROLOGY UNIT, DEPARTMENT OF CLINICAL AND EXPERIMENTAL MEDICINE, UNIVERSITY OF PISA, PISA – NEUROLOGIA)
Presentatore
ROBERTO CHIAPPINI
Modalità
Poster Session
Abstract
“Background: Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disease affecting the lower motor neuron. With the new therapeutic options, sensitive clinical evaluation and outcome measures are needed, especially in adult patients, in which the expected clinical response is mostly stabilization of disease progression. We present data from the application of the EnduSMA protocol for a follow-up period of 12 months.
Methods: The total cohort includes 22 SMA 3 adult patients (15 M, 7 F). The clinical evaluations were scheduled every 4 months for a total of 12 months. Scales administered included EnduSMA, RULM, HMFSE and quality of life assessment scales, along with respiratory data collection. Moreover, wearable devices integrated evaluations have been tested on 3 patients with surface EMG, accelerometers, and protractor.
Results: The scale has been validated on a preliminary cohort of 10 SMA patients and matched controls and then administered to the whole cohort of 22 patients for the expected follow-up period. The scale appears to be sensitive to detect changes in motor performance, complementing the standard motor scales and quality of life/fatigue patient reported outcome measures.
Conclusion: the evaluation of endurance could represent a useful parameter that can integrate the standard clinical monitoring in the management and follow-up of SMA adult patients. Fatigability is a feature of SMA that can be determined with continuous repetitive tasks offering a quite objective measure of treatment response. To integrate the fatigability evaluation as trial readiness in clinical trials, should be reasonable to implement a set of suitable biomarkers or clinical outcome measures which can fill up the gaps in our understanding of disease course.”