title: Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients.
abstract: Spinal muscular atrophy (SMA) is a neurodegenerative disorder showing a broad clinical spectrum and no cure to date. To design and select evaluation criteria for the potential assessment of drugs currently being developed, the patient's perspective is critical. A survey, aiming to obtain a view on the current clinical state of European Type II and Type III SMA patients, the impact of this situation on their quality of life and their expectations regarding clinical development, was carried out by SMA-Europe member organizations in July 2015. A questionnaire was set up, translated into 8 European languages and sent out directly via electronic mailing to the targeted SMA patient population by the respective European patient organizations. We were able to collect 822 valid replies in less than two weeks. The questionnaire captured the current abilities of the respondents, their perception of the disease burden which appeared very similar across Europe despite some regional variations in care. According to the great majority of the respondents, stabilization of their current clinical state would represent a therapeutic progress for a compelling majority of the respondents to the questionnaire.
authors.affiliation: AFM Telethon, 1 rue de l'Internationale, 91002 Evry, France. Electronic address: frouault@afm-telethon.fr.
authors.forename: Françoise
authors.initials: F
authors.lastname: Rouault
authors.affiliation: SMA-Trust, 1c Atherstone Barns, Atherstone on Stour, Warwickshire CV37 8NE, United Kingdom.
authors.forename: Vanessa
authors.initials: V
authors.lastname: Christie-Brown
authors.affiliation: Vereniging Spierziekten Nederland, Luitenant Generaal van Heutszlaan 6, 3743 JN Baarn, The Netherlands.
authors.forename: Ria
authors.initials: R
authors.lastname: Broekgaarden
authors.affiliation: SMA Schweiz, Alpenstrasse 76, 3627 Heimberg, Switzerland.
authors.forename: Nicole
authors.initials: N
authors.lastname: Gusset
authors.affiliation: SMA Support UK, 40 Cygnet Court, Timothy's Bridge Road, Stratford upon Avon, Warwickshire CV37 9NW, United Kingdom.
authors.forename: Doug
authors.initials: D
authors.lastname: Henderson
authors.affiliation: Fundacja SMA, Ul. Przy Forcie 10/99, 02-495 Warszawa, Poland.
authors.forename: Patryk
authors.initials: P
authors.lastname: Marczuk
authors.affiliation: Deutsche Gesellschaft fuer Muskelkranke, Im Moos 4, 79112 Freiburg, Germany.
authors.forename: Inge
authors.initials: I
authors.lastname: Schwersenz
authors.affiliation: Institut National d'Études Démographiques, 133 boulevard Davout, 75020 Paris, France.
authors.forename: Gil
authors.initials: G
authors.lastname: Bellis
authors.affiliation: AFM Telethon, 1 rue de l'Internationale, 91002 Evry, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Cottet
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D000368:Aged; D059031:Anticipation, Psychological; D001294:Attitude to Health; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D017281:Cost of Illness; D005060:Europe; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D011788:Quality of Life / Q000523:psychology*; D014897:Spinal Muscular Atrophies of Childhood / Q000453:epidemiology / Q000503:physiopathology / Q000523:psychology* / Q000628:therapy; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Patient's perspective; Spinal muscular atrophy; Survey outcome