Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report
| العنوان: | Measuring Outcomes in Adults with Spinal Muscular Atrophy - Challenges and Future Directions - Meeting Report |
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| المؤلفون: | Eugenio Maria Mercuri, Hanns Lochmüller, S. Attarian, Maggie C. Walter, Tim Hagenacker, Christoph Kleinschnitz, Juan F. Vázquez-Costa, S Delstanche, C Neuwirth, Valeria A. Sansone |
| المصدر: | Journal of neuromuscular diseases r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname |
| بيانات النشر: | IOS Press, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Adult, medicine.medical_specialty, Oligonucleotides, Medizin, SMN1, Disease, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Quality of life, Outcome Assessment, Health Care, medicine, Humans, business.industry, Spinal muscular atrophy, Motor neuron, Congresses as Topic, medicine.disease, SMA, 5q-SMA, adult SMA, motor neuron, nusinersen, spinal muscular atrophy, Clinical trial, 030104 developmental biology, medicine.anatomical_structure, Neurology, Practice Guidelines as Topic, Nusinersen, Settore MED/26 - Neurologia, Neurology (clinical), business, 030217 neurology & neurosurgery |
| الوصف: | Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease which affects 1 in 6,000–10,000 live births, caused by loss of the survival motor neuron 1 gene (SMN1). A major focus of therapeutic developments has been on increasing the full-length SMN protein by increasing the inclusion of exon 7 in SMN2 transcripts, enhancing SMN2 gene expression, stabilizing the SMN protein or replacing the SMN1 gene. In June 2017, FDA and EMA have approved the antisense oligonucleotide Nusinersen as the first treatment for all SMA subtypes without age restriction. While prominent treatment effects have been observed in the earlier stages of the disease and in patients up to 15 years of age, there is only limited data from clinical trials in adult SMA patients. First real-world data from neuromuscular clinical centers suggest a therapeutic benefit of nusinersen with a favourable safety profile also in adult SMA patients: in several cases, relevant improvements of motor function is achieved, which might lead to enhanced autonomy in daily life activities and improved quality of life. Systematic follow-up of the motor status with validated instruments is crucial for an adequate monitoring of the therapeutic effects but most of the widely used scales and scores have been developed and evaluated for the pediatric population only. International neuromuscular experts have met in Frankfurt/Main, Germany in May 2019 to discuss relevant aspects of the diagnostic pathway and patient management in adult SMA. The recommendations and challenges in this patient population are discussed. |
| تدمد: | 2214-3599 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af6d90eb57c25aeb2ab4b1b64432d1aTest https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13279Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....8af6d90eb57c25aeb2ab4b1b64432d1a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 22143599 |
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