Subject(s)
Muscular Diseases , Neglected Diseases , Neuromuscular Diseases , Rare Diseases , France , Humans , Interdisciplinary Research , Muscular Diseases/diagnosis , Muscular Diseases/etiology , Neglected Diseases/diagnosis , Neglected Diseases/etiology , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/etiology , Neuromuscular Diseases/genetics , Rare Diseases/diagnosis , Rare Diseases/etiology , Societies, MedicalSubject(s)
Delivery of Health Care , Health Services Accessibility , Therapies, Investigational , Delivery of Health Care/organization & administration , Delivery of Health Care/standards , Drug Approval/legislation & jurisprudence , Drug Approval/organization & administration , Drug and Narcotic Control , Drugs, Investigational/therapeutic use , Health Services Accessibility/organization & administration , Health Services Accessibility/standards , Humans , Infant, Newborn , Interdisciplinary Communication , Neonatal Screening , Neuromuscular Diseases/diagnosis , Neuromuscular Diseases/epidemiology , Neuromuscular Diseases/therapy , Patient Care Team/organization & administration , Patient Care Team/standards , Therapies, Investigational/methods , Therapies, Investigational/standardsSubject(s)
Delayed Diagnosis , Patient Advocacy , Rare Diseases/diagnosis , Self-Help Groups/organization & administration , Critical Pathways/economics , Critical Pathways/organization & administration , Delayed Diagnosis/psychology , Delayed Diagnosis/statistics & numerical data , Female , Health Resources , Humans , Perception , Professional-Patient Relations , Time Factors , Whole Genome Sequencing/economics , Whole Genome Sequencing/methodsABSTRACT
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.
