Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy.

Following the 2017 approval of a first spinal muscular atrophy (SMA) treatment by the European Medicines Agency, SMA Europe launched a Europe-wide survey with the goal of understanding patients' treatment expectations, realities of daily living and access to clinical trials and therapy, and how this varied according to parameters such as age and disease severity. A response rate of 31% yielded 1474 completed surveys from 26 European countries. In line with findings from a 2015 SMA Europe-led survey, participants considered stabilization of their condition to be progress. Notably, responses indicated that the current classification of SMA at diagnosis by 'type' often does not reflect current mobility level. Large gaps in treatment access were identified that varied in particular between age and disease severity groups, yet there was high interest in clinical trial participation. In addition, alternative treatment options, including combination therapies, are now expectations. These perspectives should be central considerations through the research and development processes of new SMA therapies, through data generation and discussions on access to therapies. Results from this survey indicate that collaboration between stakeholders is essential to the foundation upon which innovative approaches for SMA treatments and access can be explored.

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

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.