Marcos Madruga-Garrido1, Juan F Vázquez-Costa2,3,4,5, Julita Medina-Cantillo6, María Brañas7, María G Cattinari8, Mencía de Lemus8,9, Paola Díaz-Abós7, Victoria Sánchez-Menéndez7, Ángeles Terrancle7, Pablo Rebollo10, Jorge Maurino11. 1. Unidad de Neuropediatría, Centro Pediátrico de Sevilla, Hospital Viamed Santa Ángela de la Cruz, Seville, Spain. 2. Motor Neuron Disease Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain. 3. Neuromuscular Research Unit, Institut d'Investigació Sanitària la Fe (IIS La Fe), Valencia, Spain. 4. Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain. 5. Department of Medicine, University of Valencia, Valencia, Spain. 6. Servei de Rehabilitació i Medicina Física, Hospital Universitari Sant Joan de Déu, Barcelona, Spain. 7. Medical Department, Roche Farma, Madrid, Spain. 8. Fundación Atrofia Muscular Espinal España (FundAME), Madrid, Spain. 9. SMA-Europe, Freiburg, Germany. 10. IQVIA, Barcelona, Spain. 11. Medical Department, Roche Farma, Madrid, Spain. jorge.maurino@roche.com.
Abstract
INTRODUCTION: There is a need to optimize the current clinical outcome measures in spinal muscular atrophy (SMA) incorporating patients' and caregivers' perspectives. The aim of this study is to evaluate the psychometric properties (validity, reliability and sensitivity to change) of a set of existing questionnaires and newly created items grouped in a "toolbox" to assess the impact of SMA on the physical, psychological and activities of daily living domains of the patient's life. METHODS: This non-interventional, prospective study will be conducted at 12 neuromuscular clinics specialized in the management of patients with SMA in Spain. An expert panel of pediatric and adult neurologists, rehabilitation physicians, and a patient representative participated in the study design and selected key disease dimensions to explore and their respective measurements: mobility-independence, fatigue and endurance, pain, fatigability, breathing and voice, sleep and rest, and vulnerability. Patients aged 2 years or older with a confirmed diagnosis of 5q-autosomal recessive SMA (genetic confirmation of homozygous deletion or heterozygosity predictive of loss of function of the SMN1 gene) will be recruited. PLANNED OUTCOMES: The development of robust outcome measures in collaboration with the patient community is essential to determine what is meaningful to patients and their caregivers. This study will provide us with a comprehensive set of tools to better capture the course of the disease and the response to treatments.
INTRODUCTION: There is a need to optimize the current clinical outcome measures in spinal muscular atrophy (SMA) incorporating patients' and caregivers' perspectives. The aim of this study is to evaluate the psychometric properties (validity, reliability and sensitivity to change) of a set of existing questionnaires and newly created items grouped in a "toolbox" to assess the impact of SMA on the physical, psychological and activities of daily living domains of the patient's life. METHODS: This non-interventional, prospective study will be conducted at 12 neuromuscular clinics specialized in the management of patients with SMA in Spain. An expert panel of pediatric and adult neurologists, rehabilitation physicians, and a patient representative participated in the study design and selected key disease dimensions to explore and their respective measurements: mobility-independence, fatigue and endurance, pain, fatigability, breathing and voice, sleep and rest, and vulnerability. Patients aged 2 years or older with a confirmed diagnosis of 5q-autosomal recessive SMA (genetic confirmation of homozygous deletion or heterozygosity predictive of loss of function of the SMN1 gene) will be recruited. PLANNED OUTCOMES: The development of robust outcome measures in collaboration with the patient community is essential to determine what is meaningful to patients and their caregivers. This study will provide us with a comprehensive set of tools to better capture the course of the disease and the response to treatments.
Entities:
Keywords:
Activities of daily living; Outcome measures; Patients and caregivers; Quality of life; Spinal muscular atrophy
Authors: Gustavo Saposnik; Paola Díaz-Abós; Victoria Sánchez-Menéndez; Carmen Álvarez; María Terzaghi; Jorge Maurino; María Brañas-Pampillón; Ignacio Málaga Journal: PLoS One Date: 2022-02-15 Impact factor: 3.240