Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study)
Por:
Madruga-Garrido M, Vázquez-Costa JF, Medina J, Brañas M, Cattinari MG, de Lemus M, Díaz-Abós P, Sánchez-Menéndez V, Terrancle Á, Rebollo P and Maurino J
Publicada:
1 jun 2021
Ahead of Print:
1 ene 2021
Resumen:
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.
Filiaciones:
Madruga-Garrido M:
Unidad de Neuropediatría, Centro Pediátrico de Sevilla, Hospital Viamed Santa Ángela de la Cruz, Seville, Spain
Vázquez-Costa JF:
Motor Neuron Disease Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain
Neuromuscular Research Unit, Institut d'Investigació Sanitària la Fe (IIS La Fe), Valencia, Spain
Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain
Department of Medicine, University of Valencia, Valencia, Spain
Medina J:
Servei de Rehabilitació i Medicina Física, Hospital Universitari Sant Joan de Déu, Barcelona, Spain
Brañas M:
Medical Department, Roche Farma, Madrid, Spain
Cattinari MG:
Fundacion Atrofia Muscular Espinal España (FundAME), Madrid, Spain
de Lemus M:
Fundacion Atrofia Muscular Espinal España (FundAME), Madrid, Spain
SMA-Europe, Freiburg, Germany
Díaz-Abós P:
Medical Department, Roche Farma, Madrid, Spain
Sánchez-Menéndez V:
Medical Department, Roche Farma, Madrid, Spain
Terrancle Á:
Medical Department, Roche Farma, Madrid, Spain
Rebollo P:
IQVIA, Barcelona, Spain
Maurino J:
Medical Department, Roche Farma, Madrid, Spain.
Green Submitted, gold
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