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Research Article| Volume 27, ISSUE 5, P428-438, May 2017

Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients

Published:February 02, 2017DOI:https://doi.org/10.1016/j.nmd.2017.01.018

      Highlights

      • This survey is a descriptive analysis of Type II and Type III SMA from a European patient's perspective.
      • A survey, by SMA-Europe, directly addressed to the targeted population collected 822 replies.
      • This study focuses on disease impact, autonomy, and expectations of current therapeutic development.
      • Outstanding result was a desire for stabilization of current clinical state.

      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.

      Keywords

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