Portal de investigación
Diseño y validación de una medida de resultado clínica para pacientes adolescentes y adultos con AME. Estudio SMA LIFE.
Datos básicos
- Protocolo:
- ML43472
- EUDRACT:
- NCT:
- Centro:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Año de incio:
- 2022
- Año de finalización:
Documentos
- No hay documentos
Participantes
Financiadores - Promotores
Resultados del Ensayo Clínico
Advances in the early diagnosis of amyotrophic lateral sclerosis.
Garcia-Casanova, Pilar H, Vazquez-Costa, Juan F
Article. 10.1080/14737175.2025.2471556. 2025
Asymptomatic HyperCKemia in the Pediatric Population A Prospective Study Utilizing Next-Generation Sequencing and Ancillary Tests
Marti, Pilar; (...); Vilchez, Juan Jesus
Article. 10.1212/WNL.0000000000210116. 2025
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas, Nuria; (...); Vilchez, Juan J
Article. 10.1007/s00415-024-12821-3. 2025
CuidAME: Registry for longitudinal data collection of Spanish SMA patients
Segovia-Simon, S.; (...); Nascimento, A.
Meeting Abstract. 10.1016/j.nmd.2022.07.078. 2022
Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease.
Vazquez-Costa, Juan F.; (...); Garcia-Redondo, Alberto
Article. 10.1111/ene.15661. 2022
Descriptive analysis of the spinal muscular atrophy population treated with Nusinersen included in the CuidAME project
Sotoca Fernandez, J.; (...); Fernandez-Garcia, M.
Meeting Abstract. 10.1016/j.nmd.2024.07.462. 2024
Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol
Rebollo, Pablo; (...); Vazquez-Costa, Juan F.
Article. 10.1007/s40120-023-00571-9. 2024
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Munoz, Raquel; (...); Aller, Elena
Article. 10.1212/NXG.0000000000200038. 2022
Do we really need to calculate a minimal important difference for ALSFRS-R?: A letter in response to 'Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R' published in Vol. 24(3-4), pp. 311-316
Article. 10.1080/21678421.2023.2248199. 2024
Fatigue, pain, breathing, voice, fatigability, sleep, rest and vulnerability as meaningful outcomes in SMA care: the patients ' and caregivers' voice
Povedano, M.; (...); Rebollo, P.
Meeting Abstract. 10.1016/j.nmd.2022.07.209. 2022
Impact of SARS-CoV-2 infection and COVID-19 pandemic on the morbidity and mortality of amyotrophic lateral sclerosis patients in Valencia, Spain
Garcia-Casanova, Pilar H.; (...); Vazquez-Costa, Juan F.
Article. 10.1111/ene.16465. 2024
Insights into phenotypic variability caused by GARS1 pathogenic variants.
Jiménez-Jiménez J; (...); Sivera R
Article. 10.1111/ene.16416. 2024
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.
Borrego-Hernandez, Daniel; (...); Garcia-Redondo, Alberto
Article. 10.3390/biomedicines12020356. 2024
Lifesaving Treatments for Spinal Muscular Atrophy: Global Access and Availability
Armengol, Victor D.; (...); Roy, Bhaskar
Meeting Abstract. 2023
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Armengol, Victor D; (...); Roy, Bhaskar
Article. 10.1212/CPJ.0000000000200224. 2024
Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen
Andres-Benito, Pol; (...); Povedano, Monica
Article. 10.3390/ijms25073810. 2024
Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report.
Pitarch Castellano, Inmaculada; (...); Poveda Andres, Jose L
Case Reports. 10.3390/children11050590. 2024
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Berzal-Serrano, Alba; (...); Millan, Jose M
Article. 10.3390/ijns11010007. 2025
Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry.
Pitarch-Castellano I; (...); Madruga-Garrido M
Article. 10.3390/children10121880. 2023
Pilot study for the implementation of newborn screening for spinal muscular atrophy in Valencia
Berzal-Serrano, Alba; (...); Millan, Jose M.
Meeting Abstract. 10.2174/1871530323666230914122955. 2024
Risdiplam in non-sitter patients aged 16years and older with 5q spinal muscular atrophy.
Nungo Garzon, Nancy Carolina; (...); Vazquez-Costa, Juan F
Article. 10.1002/mus.27804. 2023
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.
Schroth, Mary; (...); Vazquez-Costa, Juan F.
Article. 10.1212/CPJ.0000000000200310. 2024
The cross-sectional area of the median nerve: An independent prognostic biomarker in amyotrophic lateral sclerosis
Martinez-Paya, J. J.; (...); Vazquez-Costa, J. F.
Article. 10.1016/j.nrl.2022.01.008. 2024
The cross-sectional area of the median nerve: An independent prognostic biomarker in amyotrophic lateral sclerosis.
Martinez-Paya, J J; (...); Vazquez-Costa, J F
Article. 10.1016/j.nrleng.2024.07.003. 2024
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study.
Vazquez-Costa, Juan F.; (...); Madruga-Garrido, Marcos
Article. 10.1007/s40120-022-00411-2. 2022
Validation of Neuromyotype: A smart keyboard for the evaluation of spinal muscular atrophy patients
Lizandra Cortes, P.; (...); Vazquez-Costa, J. F.
Article. 10.1016/j.nrl.2022.05.004. 2024