Portal de investigación
ESTUDIO CLINICO DE FASE II, DOBLE CIEGO, EXPLORADOR, DE GRUPOS PARALELOS U CONTROLADO CON PLACEBO PARA EVALUAR DOS PAUTAS POSOLOGICAS DE GSK2402968 PARA LA EFICACIA, SEGURIDAD, TELERABILIDAD Y FARMACOCINETICA EN SUJETOS AMBULATORIOS CON DISTROFIA MUSCULAR DE DUCHENNE.
Datos básicos
- Protocolo:
- DMD114117
- EUDRACT:
- 2010-018412-32
- NCT:
- Centro:
- Año de incio:
- Año de finalización:
Documentos
- No hay documentos
Participantes
Financiadores - Promotores
Resultados del Ensayo Clínico
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
Analysis of Juvenile Onset Pompe Disease patients included in the Spanish Pompe Registry
Martinez Marin, R.; (...); Diaz Manera, J.
Meeting Abstract. 2022
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D; (...); Díaz-Manera J
Article. 10.1007/s00415-023-11862-4. 2023
AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action
Cerro-Herreros, Estefania; (...); Artero, Ruben
Article. 10.1126/sciadv.adn6525. 2024
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
Cannabidiol therapy for refractory epilepsy in paediatric real world setting: What's the benefit?
Smeyers, P.; (...); Hernandez, S.
Meeting Abstract. 2024
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 spectrum of a large cohort of delta-sarcoglycan muscular dystrophy
Alonso-Perez, J; (...); Diaz-Manera, J
Meeting Abstract. 10.1016/j.nmd.2021.07.202. 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
Cognitive adverse events of adjunctive eslicarbazepine acetate in children with refractory focal seizures
Smeyers, P.; (...); Gama, H.
Meeting Abstract. 2022
Cognitive and Behavioral Effects of Adjunctive Brivaracetam in Children and Adolescents with Focal Seizures: Final Data From an Open-label Follow-up Trial
Elshoff, Jan-Peer; (...); Smeyers, Patricia
Meeting Abstract. 10.1212/WNL.0000000000201877. 2023
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D; (...); Díaz-Manera J
Correction. 10.1007/s00415-023-12178-z. 2024
CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2.
Poyatos-Garcia, Javier; (...); Vilchez, Juan Jesus
Article. 10.1016/j.omtn.2023.01.004. 2023
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain
Sivera R; (...); Sevilla T
Article. 10.1111/ene.15001. 2021
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model
Poyatos-Garcia, Javier; (...); Vilchez, Juan J
Article. 10.1186/s13395-024-00353-3. 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
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Topf, Ana; (...); Straub, Volker
Article. 10.1038/s41588-023-01651-0. 2024
Disseminated toxoplasma infection after hematopoietic stem cell transplantation with myositis and encephalitis.
Asensi Cantó P; (...); Guerreiro M
Article. 10.1111/tid.14067. 2023
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 2022
Effects of Cardiopulmonary Rehabilitation on the Muscle Function of Children with Congenital Heart Disease: A Prospective Cohort Study.
Ferrer-Sargues FJ; (...); Salvador-Coloma P
Article. 10.3390/ijerph18115870. 2021
Ephedrine and 3,4 diaminopyridine responsive myasthenic syndrome in plectin-related epidermolysis bullosa simplex with muscular dystrophy
Argente-Escrig, H; (...); Vilchez, JJ
Meeting Abstract. 2017
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Article. 10.1212/WNL.0000000000209174. 2024
Givinostat in DMD: results of the Epidys Study
Mercuri, E.; (...); McDonald, C.
Meeting Abstract. 10.1016/j.nmd.2022.07.223. 2022
Human skeletal myopathy myosin mutations disrupt myosin head sequestration
Carrington, Glenn; (...); Ochala, Julien
Article. 2023
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington, Glenn; (...); Ochala, Julien
Article. 10.1172/jci.insight.172322. 2023
Inflammatory myopathy related to Chikungunya virus: a case report
Muelas, N; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2017.06.239. 2017
Insights into phenotypic variability caused by GARS1 pathogenic variants.
Jiménez-Jiménez J; (...); Sivera R
Article. 10.1111/ene.16416. 2024
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
Kidney manifestations in patients with hereditary leiomyomatosis and renal cell cancer syndrome (LHRCC) in Spain
Sanchez, A. B.; (...); Soto, J. L.
Meeting Abstract. 10.1016/j.annonc.2020.08.806. 2020
KY mutations are a cause of distal neuromyopathies
Muelas, N.; (...); Vilchez, J.
Meeting Abstract. 2023
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Marco-Hernández AV; (...); Martínez-Castellano F
Article. 10.1111/cge.14093. 2022
Muscle MRI-phenotyping of patients with likely pathogenic anoctamin 5 variants
Poulsen, N.; (...); Vissing, J.
Meeting Abstract. 10.1016/j.nmd.2024.07.187. 2024
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.
Laitila, Jenni; (...); Ochala, Julien
Article. 10.1113/JP286870. 2024
Myosin dysregulation in nemaline myopathy
Laitila, J.; (...); Ochala, J.
Article. 10.1016/j.nmd.2022.07.017. 2022
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Ranu, Natasha; (...); Ochala, Julien
Article. 10.1186/s40478-022-01491-9. 2023
New developments and data highlights in the international myotubular and centronuclear myopathy patient registry
Laitila, J.; (...); Ochala, J.
Meeting Abstract. 10.1016/j.nmd.2022.07.018. 2022
Non-traumatic spontaneous abdominal haemorrhage
Ballesta, M.; (...); Lerga, P. Estelles
Article. 10.1016/j.rx.2022.11.003. 2023
Non-traumatic spontaneous abdominal haemorrhage.
Ballesta M; (...); Estellés Lerga P
Article. 10.1016/j.rxeng.2022.11.004. 2023
Percutaneous closure of ventricular septal defect with the KONAR-MF device
Alvarez-Fuente, Maria; (...); Del Cerro, Maria Jesus
Article. 10.24875/RECICE.M22000277. 2022
Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy.
Cerro-Herreros, E; (...); Artero, R
Article. 10.1016/j.omtn.2021.07.017. 2021
Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.
Statland, Jeffrey M.; (...); Attie, Kenneth M.
Article. 10.1002/mus.27558. 2022
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Mercuri E; (...); McDonald CM
Article. 10.1016/S1474-4422(24)00036-X. 2024
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.
Tawil R; (...); Jiang JG
Article. 10.1016/S1474-4422(24)00073-5. 2024
Severe Communication Delays Are Independent of Seizure Burden and Persist Despite Contemporary Treatments in SCN1A+ Dravet Syndrome: Insights from the ENVISION Natural History Study.
Perry, M. Scott; (...); Rico, Salvador
Article. 10.1111/epi.17850. 2023
Spanish cardiac catheterization in congenital heart diseases registry. Second official report from the ACI-SEC and the GTH-SECPCC (2021)
Tejerizo, Fernando Ballesteros; (...); Arguelless, Juan Ignacio Zabala
Article. 10.24875/RECICE.M23000366. 2023
Spanish cardiac catheterization in congenital heart diseases registry. Third official report from the ACI-SEC and the GTH-SECPCC (2022)
Tejerizo, Fernando Ballesteros; (...); Arguelles, Juan Ignacio Zabala
Article. 10.24875/RECIC.M24000458. 2024
Spanish Pompe Registry: New data based on the 130 patients included
Marin, R. Martinez; (...); Manera, J. Diaz
Meeting Abstract. 2023
Statin-induced myopathies: beyond immuno-mediated necrotizing myopathies
Muelas, MMN; (...); Vilchez, JJ
Meeting Abstract. 2018
Study of pauci-symptomatic and asymptomatic hyperCKaemia
Marti, P.; (...); Vilchez, J. J.
Article. 2011
Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.
Gabaldón-Albero A; (...); Martínez F
Article. 10.3390/genes15101312. 2024
Uric Acid and acute kidney injury in high-risk patients for developing Acute Kidney Injury undergoing cardiac surgery: a prospective multicenter study
Nagore, D.; (...); Blanco, V.
Article. 10.1016/j.redar.2023.09.005. 2024
Uric Acid and acute kidney injury in high-risk patients for developing Acute Kidney Injury undergoing cardiac surgery: a prospective multicenter study.
Nagore, D; (...); Blanco, V
Article. 10.1016/j.redare.2024.04.019. 2024
Use of NGS for diagnosis of asymptomatic hyperCKemia in childhood
Marti, P; (...); VILCHEZ, J
Meeting Abstract. 10.1016/j.nmd.2021.07.340. 2021
Vamorolone versus placebo and prednisone in Duchenne muscular dystrophy: results from a 24-week double-blind randomized trial
Guglieri, M; (...); Andres Sant Joan Deu Hosp
Meeting Abstract. 2021