Portal de investigación
ESTUDIO SOBRE EL MANEJO DE LOS PORTADORES EN AMILOIDOSIS HEREDITARIA POR TRANSTIRETINA - EMPATIA.
Datos básicos
- Código:
- PFI-TTR-2017-01
- Protocolo:
- PFI-TTR-2017-01
- EUDRACT:
- NCT:
- Centro:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Dotación:
- Año de incio:
- 2018
- Año de finalización:
- 2019
Documentos
- No hay documentos
Participantes
Financiadores - Promotores
Resultados del Ensayo Clínico
A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study
Davila, Lucia Galan; (...); Tarilonte, Patricia
Article. 10.1186/s13023-024-03304-9. 2024
A Multicenter, Double-Blind, Placebo-Controlled, Pivotal Phase III Study (PLEO-CMT) of a Fixed Combination of Baclofen, Naltrexone and Sorbitol (PXT3003) for Charcot-Marie-Tooth Disease Type 1A (CMT1A)
Attarian, S; (...); Goedkoop, R
Meeting Abstract. 2018
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: the role of nerve pathology in defining a demyelinating neuropathy.
Argente-Escrig, Herminia; (...); Sevilla, Teresa
Article. 10.1111/nan.12817. 2022
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging.
Muelas N; (...); Vilchez JJ
Article. 10.1111/ene.14630. 2021
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
Argente-Escrig, H; (...); Sevilla, T
Article. 10.1016/j.jns.2019.05.015. 2019
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4
Argente-Escrig, H.; (...); Sevilla, T.
Meeting Abstract. 2019
Analysis of the diagnostic pathway and delay in patients with amyotrophic lateral sclerosis in the Valencian Community.
Vázquez-Costa JF; (...); Sevilla-Mantecón T
Article. 10.1016/j.nrl.2018.03.026. 2018
Analysis of the diagnostic pathway and delay in patients with amyotrophic lateral sclerosis in the Valencian Community.
Vazquez-Costa, J F; (...); Sevilla-Mantecon, T
Article. 10.1016/j.nrleng.2018.03.023. 2021
Antibodies against nodo-paranodal proteins are not present in genetic neuropathies.
Martín-Aguilar L; (...); Querol L
Article. 10.1212/WNL.0000000000009189. 2020
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
Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.
Article. 10.1111/ene.14512. 2020
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
Baviera-Muñoz R; (...); Espinós C
Article. 10.1016/j.jns.2021.118062. 2021
Clinical and genetic profile, and assessment of disability in childhood hereditary motor neuropathy
Argente-Escrig, H; (...); Menezes, M
Meeting Abstract. 2020
Clinical and Magnetic Resonance Imaging features of a series of 11 Spanish patients who carry mutations in the BICD2 gene
Carrera, MF; (...); Sevilla, T
Meeting Abstract. 2018
Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.
Cortés-Vicente E; (...); Illa I
Article. 10.1212/WNL.0000000000008903. 2020
Clinical characteristics and outcomes of thymoma associated myasthenia gravis.
Álvarez-Velasco R; (...); Cortés-Vicente E
Article. 10.1111/ene.14820. 2021
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
Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy.
Argente-Escrig H; (...); Menezes MP
Article. 10.1212/WNL.0000000000011054. 2021
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
Lupo, V; (...); SEVILLA, T
Article. 10.1136/jmedgenet-2018-105650. 2018
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
Sancho, P; (...); Espinos, C
Article. 10.1093/hmg/ddz006. 2019
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
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain
Sivera R; (...); Sevilla T
Article. 10.1111/ene.15001. 2021
DEMOGRAPHICS AND TREATMENT PATTERNS FOR CHARCOT-MARIE-TOOTH DISEASE IN THE EU AND US: INTERIM RESULTS FROM AN INTERNATIONAL DIGITAL REAL-WORLD STUDY
Ziemssen, T.; (...); Larkin, M.
Meeting Abstract. 2019
DEPRESSION IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022
Diagnostic delay and pathway analysis in paediatric Charcot-Marie-Tooth disease
Argente-Escrig, H; (...); Mantecon, MTS
Meeting Abstract. 2019
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
Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation.
Frasquet, Marina; (...); Lupo, Vincenzo
Article. 10.1111/ene.14700. 2021
DRP2 mutations as a cause of Charcot Marie Tooth in Spain
Sivera, R.; (...); Sevilla, T.
Meeting Abstract. 2023
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
Cortes-Vicente, Elena; (...); Gallardo, Eduard
Article. 10.1002/acn3.51492. 2022
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 2022
Early Referral to an ALS Center Reduces Several Months the Diagnostic Delay: A Multicenter-Based Study.
Martínez-Molina M; (...); Vázquez-Costa JF
Article. 10.3389/fneur.2020.604922. 2020
Eculizumab for a catastrophic relapse in NMOSD: case report.
Gorriz, David; (...); Casanova, Bonaventura
Article. 10.1007/s10072-023-06971-x. 2023
Effects of Spinal Cord Stimulation in Patients with Small Fiber and Associated Comorbidities from Neuropathy After Multiple Etiologies
Canos-Verdecho, Angeles; (...); Morales-Suarez-Varela, Maria
Article. 10.3390/jcm14020652. 2025
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Article. 10.1212/WNL.0000000000209174. 2024
Expanding the molecular characterization of the CMT2Z disease associated gene MORC2
Sancho, P; (...); Espinos, C
Meeting Abstract. 2019
Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?
Vazquez-Costa, JF; (...); Sevilla, T
Article. 10.1080/21678421.2019.1582671. 2019
Genotype and phenotype spectrum of SORD neuropathy
Cortese, A; (...); SORD Nat Hist Study Grp
Meeting Abstract. 2021
HEALTHCARE RESOURCE USE IN CHARCOT-MARIE-TOOTH DISEASE IN THE EU AND US: INTERIM RESULTS FROM AN INTERNATIONAL DIGITAL REAL-WORLD STUDY
Ziemssen, T.; (...); Larkin, M.
Meeting Abstract. 2019
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.
de Frutos, Fernando; (...); Gonzalez-Costello, Jose
Article. 10.1016/j.rec.2024.12.012. 2025
Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency
Seminario, F. De Frutos; (...); Gonzalez-Costello, J.
Meeting Abstract. 10.1093/eurheartj/ehae666.2073. 2024
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
IqYmune® is an effective maintenance treatment for multifocal motor neuropathy: a randomised, double-blind, multicenter cross-over non-inferiority study versus Kiovig® - The LIME Study.
Léger JM; (...); Merkies I
Article. 10.1111/jns.12291. 2019
ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.
Cabello-Murgui, Javier; (...); Sivera, Rafael
Article. 10.1111/ene.16485. 2024
Lenalidomide induced reversible parkinsonism, dystonia, and dementia in subclinical Creutzfeldt-Jakob disease
Argente-Escrig, H; (...); Bataller, L
Letter. 10.1016/j.jns.2018.08.027. 2018
Management of Hereditary Transthyretin Amyloidosis (ATTRv) Patients and Asymptomatic Carriers in Spain: The EMPATIa Study.
Losada Lopez, Ines; (...); Setaro, Francesca
Article. 10.3390/jcm13247587. 2024
Molecular diagnosis of inherited peripheral neuropathies: gene panel vs. exome sequencing
Lupo, V; (...); Espinos, C
Meeting Abstract. 2018
Msi2 enhances muscle dysfunction in a myotonic dystrophy type 1 mouse model.
Sabater-Arcis, Maria; (...); Artero, Ruben
Article. 10.1016/j.bj.2023.100667. 2023
Mutations in MME cause autosomal recessive late-onset CMT type-2 disease
Carrera, MF; (...); Sevilla, T
Meeting Abstract. 2018
NATURAL HISTORY STUDY OF SORD NEUROPATHY
Cortese, Andrea; (...); Zuchner, Stephan
Meeting Abstract. 2022
New insights into the pathophysiology of fasciculations in amyotrophic lateral sclerosis: An ultrasound study
Vazquez-Costa, JF; (...); Sevilla, T
Article. 10.1016/j.clinph.2018.09.014. 2018
Noninfectious Neurologic Complications after Allogeneic Hematopoietic Stem Cell Transplantation
Balaguer-Rosello, A; (...); Sanz, Jaime
Article. 10.1016/j.bbmt.2019.05.024. 2019
Nusinersen in adult patients with 5q spinal muscular atrophy: Amulticenter observational cohorts' study.
Vazquez-Costa, Juan F.; (...); Hervas, David
Article. 10.1111/ene.15501. 2022
Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report.
Pitarch Castellano, Inmaculada; (...); Poveda Andres, Jose L
Case Reports. 10.3390/children11050590. 2024
Outcome of patients with sustained hyperCKemia after statin treatment
Muelas, N; (...); Vilchez, JJ
Meeting Abstract. 2019
Oxidative Stress, a Crossroad between Rare Diseases and Neurodegeneration
Espinos, C; (...); Pallardo, FV
Review. 10.3390/antiox9040313. 2020
Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study.
Thomas, Florian P.; (...); Boutalbi, Youcef
Review. 10.2217/nmt-2020-0044. 2021
PATIENT-REPORTED SYMPTOM BURDEN OF CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022
Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.
Thomas, Florian P; (...); Boutalbi, Youcef
Article. 10.1097/CND.0000000000000426. 2022
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Argente-Escrig H; (...); Sevilla T
Article. 10.1002/acn3.51432. 2021
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.
de Frutos, Fernando; (...); Garcia-Pavia, Pablo
Article. 10.1080/13506129.2022.2142110. 2022
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
Frasquet, M; (...); Sevilla, T
Article. 10.1016/j.jns.2018.02.021. 2018
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome
Vazquez-Costa, JF; (...); SEVILLA, T
Article. 10.3389/fnmol.2021.721047. 2021
PRODUCTIVITY LOSSES IN PEOPLE WITH CHARCOT-MARIE-TOOTH DISEASE IN THE EU AND US: INTERIM RESULTS FROM AN INTERNATIONAL DIGITAL REAL-WORLD EVIDENCE STUDY
Ziemssen, T.; (...); Larkin, M.
Meeting Abstract. 2019
Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice
Bargiela, Ariadna; (...); Artero, Ruben
Article. 10.1038/s41598-023-27661-w. 2023
Real life experience of tafamidis for the treatment of Spanish patients with Val30Met transthyretin amyloidosis with polyneuropathy.
Sanso, Maria Antonia Ribot; (...); Gonzalez-Moreno, Juan
Article. 10.1016/j.medcli.2024.01.008. 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
Role of the nigrosome 1 absence as a biomarker in amyotrophic lateral sclerosis
Isabel Moreno-Gambin, Maria; (...); Vázquez-Costa JF
Article. 10.1007/s00415-021-10729-w. 2021
Safety and efficacy of nipocalimab in adults with generalised myasthenia gravis (Vivacity-MG3): a phase 3, randomised double-blind, placebo-controlled study
Antozzi, Carlo; (...); Sun, Hong
Article. 2025
Safety and Efficacy of Nipocalimab in Patients With Generalized Myasthenia Gravis: Results From the Randomized Phase 2 Vivacity-MG Study
Antozzi, Carlo; (...); Arroyo, Santiago
Article. 10.1212/WNL.0000000000207937. 2024
SERUM AUTOANTIBODY LOWERING BY THE ANTI-FCRN MONOCLONAL ANTIBODY, NIPOCALIMAB, CORRELATES WITH CLINICAL IMPROVEMENT IN GENERALIZED MYASTHENIA GRAVIS PATIENTS
Guptill, Jeffrey; (...); Sun, Hong
Meeting Abstract. 2022
Status of the pivotal phase III study of PXT3003 for Charcot-Marie-Tooth Type 1A disease (CMT1A)
Goedkoop, R; (...); Cohen, D
Meeting Abstract. 2018
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
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis
Cortes-Vicente, E; (...); Illa, I
Article. 10.1002/acn3.564. 2018
The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy
Thangarajh, M; (...); Ataluren Phase 2b Study Grp
Article. 10.1212/WNL.0000000000006245. 2018
The width of the third ventricle associates with cognition and behaviour in motor neuron disease
Vazquez-Costa, JF; (...); Sevilla, T
Article. 10.1111/ane.13022. 2019
Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models.
Moreno, Nerea; (...); Artero, Ruben
Article. 10.1186/s40659-024-00496-z. 2024
Validación de la versión española de la Charcot-Marie-Tooth Disease Pediatric Scale (CMTPedS).
Pitarch-Castellano I; (...); Burns J
Article. 10.33588/rn.7403.2021489. 2022
Validation of Neuromyotype: A smart keyboard for the evaluation of spinal muscular atrophy patients.
Cortes, P Lizandra; (...); Vázquez-Costa JF
Article. 10.1016/j.nrleng.2022.05.001. 2022
VIVACITY-MG: A PHASE 2, MULTICENTER, RANDOMIZED, DOUBLE- BLIND, PLACEBO-CONTROLLED STUDY TO EVALUATE THE SAFETY, TOLERABILITY, EFFICACY, PHARMACO-KINETICS, PHARMACODYNAMICS, AND IMMUNOGENICITY OF NIPOCALIMAB ADMINISTERED TO ADULTS WITH GENERALIZED MYASTHENIA GRAVIS
Antozzi, Carlo; (...); Arroyo, Santiago
Meeting Abstract. 2023
Vivacity-MG: A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of Nipocalimab Administered to Adults with Generalized Myasthenia Gravis
Guptill, Jeffrey; (...); Arroyo, Santiago
Meeting Abstract. 2021
WORK IMPACTS IN PATIENTS WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 1A (CMT1A): FINDINGS FROM A REAL-WORLD DIGITAL STUDY
Thomas, Florian; (...); Boutalbi, Youcef
Meeting Abstract. 2022