Portal de investigación
ESTUDIO ABIERTO PARA PACIENTES CON DISTROFINOPATÍA POR MUTACIÓN SIN SENTIDO TRATADOS PREVIAMENTE CON ATALURENO (PTC124®).
Datos básicos
- Protocolo:
- PTC124-GD-019-DMD
- EUDRACT:
- 2011-004853-18
- NCT:
- Centro:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Año de incio:
- 2012
- Año de finalización:
- 2017
Objetivos del proyecto
Faltan por cobrar dos facturas EC/8328 y EC/9344 que suman 7713,6€
Documentos
- No hay documentos
Participantes
Financiadores - Promotores
Resultados del Ensayo Clínico
[Farewell open letter to SEFH members].
Editorial Material. 10.7399/fh.2015.39.6.10128. 2015
[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].
Berciano J; (...); Illa I
Abstract of Published Item. 10.1016/j.nrl.2011.04.015. 2012
A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology
Kubota, A.; (...); Hirano, M.
Article. 10.1016/j.nmd.2013.06.464. 2013
A systematic review and meta-analysis of the impact of WT1 polymorphism rs16754 in the effectiveness of standard chemotherapy in patients with acute myeloid leukemia
Megías-Vericat JE; (...); Aliño SF
Article. 10.1038/tpj.2015.80. 2016
Aflibercept in exudative age related macular degeneration refractory to ranibizumab.
Ruiz Ramos J; (...); Gallego-Pinazo R
Article. 10.1016/j.oftal.2015.07.018. 2015
Analisis de las causas de suspension de tratamiento con triple terapia antiviral en pacientes con hepatitis C.
Ruiz Ramos J; (...); Poveda Andrés JL
Abstract of Published Item. 10.7399/fh.2014.38.3.1171. 2014
Anidulafungin-Induced Alopecia
Ruiz-Ramos J; (...); Poveda-Andrés JL
Article. 10.1177/1060028014524534. 2014
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy
Article. 10.1016/j.jmoldx.2015.10.005. 2016
Assessment of the quality of sample labelling for clinical research.
Pérez-Huertas P; (...); Poveda-Andrés JL
Article. 10.7399/fh.2016.40.2.9753. 2016
Association of SNPs with the efficacy and safety of immunosuppressant therapy after heart transplantation
Sánchez-Lázaro I; (...); Aliño SF
Article. 10.2217/pgs.15.39. 2015
Audiological Findings in Charcot-Marie-Tooth Disease Type 4C
Sivera, R; (...); Sevilla, T
Article. 10.5152/iao.2017.3379. 2017
Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia.
Sivera R; (...); Bataller L
Article. 10.1007/s00415-011-6266-8. 2012
Biosimilares: viejas polemicas con nuevos argumentos.
Poveda-Andrés JL, Bosó-Ribelles V
Editorial Material. 10.7399/fh.2015.39.3.8978. 2015
BK Virus-Associated Hemorrhagic Cystitis After Allogeneic Hematopoietic Stem Cell Transplantation in the Pediatric Population
Perez-Huertas, P; (...); Poveda-Andres, JL
Article. 10.1177/1043454216631952. 2017
Calidad y Legibilidad de la Hoja de Informacion al Paciente en Estudios con Analisis Farmacogenetico.
Ruiz Ramos J; (...); Poveda Andrés JL
Article. 2015
Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia
Vázquez-Costa JF; (...); Sevilla T
Article. 10.3109/21678421.2015.1112407. 2016
Clinical evaluation of rituximab treatment for neuromyelitis optica
Fernández-Megía MJ; (...); Poveda-Andrés JL
Article. 10.1016/j.nrl.2014.09.001. 2015
Clinical experiences with cannabinoids in spasticity management in multiple sclerosis
Lorente Fernández L; (...); Casanova-Estruch B
Article. 10.1016/j.nrl.2013.06.014. 2014
Clinical guidelines for late-onset Pompe disease.
Barba-Romero MA; (...); Vilchez-Padilla JJ
Article. 10.33588/rn.5408.2012088. 2012
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.
Peterle E; (...); Angelini C
Article. 10.1007/s00415-013-6931-1. 2013
CMT genetic distribution in Spanish TREAT-CMT consortium
Sivera, R.; (...); Sevilla, T.
Meeting Abstract. 2015
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V; (...); Lochmüller H
Article. 10.1007/s00415-011-6262-z. 2012
Cost-effectiveness analysis of implementing an antimicrobial stewardship program in critical care units
Ruiz-Ramos, J; (...); Ramirez, P
Article. 10.1080/13696998.2017.1311903. 2017
Cost-effectiveness of methoxy polyethylene glycolepoetin beta versus conventional epoetin in the treatment of anaemia secondary to chronic kidney disease in clinical practice
Lorente-Fernandez, L; (...); Poveda-Andres, JL
Article. 10.1136/ejhpharm-2013-000426. 2015
Charcot-Marie-Tooth disease Genetic and clinical spectrum in a Spanish clinical series
Sivera, Rafael; (...); Espinos, Carmen
Article. 10.1212/WNL.0b013e3182a9f56a. 2013
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
Sivera R; (...); Espinós C
Article. 10.1212/WNL.0b013e3182a9f56a. 2013
DESCRIPTION OF A CLUSTER OF PATIENTS WITH THE HSPB1 P.R140G MUTATION
Frasquet, M.; (...); Sevilla, T.
Meeting Abstract. 2016
Dose banding aplicado a la elaboracion de antineoplasicos: una revision narrativa de la literatura.
Pérez Huertas P; (...); Poveda Andrés JL
Article. 10.7399/fh.2015.39.4.8839. 2015
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
Gutiérrez-Rivas E; (...); Lukacs Z
Article. 2015
Drug Interaction Between Oral Cyclosporine Modified and Iron
Domingo-Chiva, E; (...); Poveda-Andres, JL
Article. 10.1177/1060028013514734. 2014
Dysferlin deficiency in patients with asymptomatic or paucisymptomatic hyperCKaemia
Marti, P.; (...); Vilchez, J.
Article. 2013
Early experience with compassionate use of 2 hydroxypropyl-beta-cyclodextrin for Niemann-Pick type C disease: review of initial published cases
Megias-Vericat, JE; (...); Poveda, JL
Review. 10.1007/s10072-017-2833-9. 2017
ECONOMIC IMPACT LINKED TO THE REDUCTION OF EXACERBATIONS WHEN A TREATMENT REGIME WITH INHALED ANTIBIOTICS IS SWITCHED TO AZTREONAM LYSINE IN PATIENTS WITH CYSTIC FIBROSIS AND CHRONIC PULMONARY INFECTION CAUSED BY PSEUDOMONAS AERUGINOSA
Sole A; (...); Casado MA
Meeting Abstract. 10.1016/j.jval.2014.08.1659. 2014
EFFECT OF CYP3A5 GENOTYPE ON TACROLIMUS DOSE REQUIREMENT, NEPHROTOXICITY AND ACUTE REJECTION IN KIDNEY TRANSPLANTATION: A SYSTEMATIC REVIEW AND META-ANALYSIS OF OBSERVATIONAL STUDIES
Rojas, L.; (...); Alino, S. F.
Article. 2013
Effect of CYP3A5*3 on kidney transplant recipients treated with tacrolimus: a systematic review and meta-analysis of observational studies
Rojas L; (...); Aliño SF
Article. 10.1038/tpj.2014.38. 2015
EFFECTS OF POLYMORPHIMS OF CYP3A5 AND ABCB1 GENES ON CHRONIC NEPHROPATHY: COHORT STUDY
Rojas, L.; (...); Alino, S. F.
Article. 2013
Estudio de utilizacion de boceprevir y telaprevir para el tratamiento de la hepatitis C cronica.
Marrero-Álvarez P; (...); Poveda-Andrés JL
Abstract of Published Item. 10.7399/FH.2014.38.1.1128. 2014
Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.
Fernandez-Costa JM; (...); Artero RD
Article. 10.1093/hmg/dds478. 2013
Experience in the management of immunosuppressant treatment with hepatitis C virus protease inhibitors
Ruiz Ramos J; (...); Poveda Andrés JL
Article. 10.1016/j.gastrohep.2014.05.004. 2014
Experience of Home Delivery Program in Haemophilia Through an Association of Patients
Megias Vericat, J. E.; (...); Bonanad Boix, S.
Meeting Abstract. 2017
EXPERTS CONSENSUS ON THE FUTURE OF RARE DISEASES CARE AND ORPHAN DRUGS ACCESS IN SPAIN: A DELPHI STUDY
Paz S; (...); Urcelay J
Meeting Abstract. 10.1016/j.jval.2015.09.2016. 2015
GANGLIOSIDE INDUCED DIFFERENTIATION ASSOCIATED PROTEIN 1 MUTATIONS IN SPAIN, A NATIONWIDE STUDY
Sivera, R.; (...); Sevilla, T.
Meeting Abstract. 2016
Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene
Marti, S; (...); Torres, J
Editorial Material. 10.1016/j.scr.2016.11.017. 2017
GENETIC DISTRIBUTION IN THE SPANISH TREAT-CMT CONSORTIUM
Barreiro, M.; (...); Sevilla, T.
Meeting Abstract. 2016
Genotype and Allele Frequencies of Drug-Metabolizing Enzymes and Drug Transporter Genes Affecting Immunosuppressants in the Spanish White Population
Bosó V; (...); Aliño SF
Article. 10.1097/FTD.0b013e3182a94e65. 2014
Guidelines for monitoring late-onset Pompe disease
Gutieerrez-Rivas, E; (...); de Munain, AL
Article. 10.33588/rn.6007.2015029. 2015
Hazardous drugs: new challenges, new opportunities.
Valero García S; (...); Poveda Andrés JL
Article. 10.7399/fh.2016.40.2.10462. 2016
Identification of a novel gene involved in Charcot-Marie-Tooth disease
Sivera, R.; (...); Espinos, C.
Meeting Abstract. 2015
Immunoproteomic studies on paediatric opsoclonus-myoclonus associated with neuroblastoma
Torres-Vega E; (...); Bataller L
Article. 10.1016/j.jneuroim.2016.05.015. 2016
Impact of adherence on subcutaneous interferon beta-1a effectiveness administered by Rebismart (R) in patients with multiple sclerosis
Edo Solsona MD; (...); Poveda Andrés JL
Article. 10.2147/PPA.S127508. 2017
IMPACT OF ADHERENCE ON SUBCUTANEOUS INTERFERON BETA-1A EFFECTIVENESS ADMINISTERED BY REBISMART (R) IN PATIENTS WITH MULTIPLE SCLEROSIS
Edo-Solsona, M.; (...); Poveda-Andres, J.
Meeting Abstract. 10.1016/j.jval.2016.09.512. 2016
Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation
Ruiz J; (...); Aliño SF
Article. 10.3390/ijms160920168. 2015
Impact of Transporter Genes Polymorphisms in Standard Induction of Acute Myeloid Leukemia
Eduardo Megias, Juan; (...); Angel Sanz, Miguel
Meeting Abstract. 2015
Incompatibility of undiluted busulfan injection with a needle-free valve
Cueto-Sola, M; (...); Poveda-Andres, JL
Letter. 10.2146/ajhp140111. 2014
Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model
Bargiela A; (...); Artero R
Article. 10.1242/dmm.018127. 2015
Increased hospital stay and allograft dysfunction in renal transplant recipients with Cyp2c19 AA variant in SNP rs4244285.
Bosó V; (...); Aliño SF
Article. 10.1124/dmd.112.047977. 2013
Individualized Prophylactic Treatment with Recombinant Factor VIII in Severe or Moderate Haemophilia a Patients. Association Between Pharmacokinetic Parameters and Clinical Variables
Megias-Vericat, Juan Eduardo; (...); Bonanad, Santiago
Meeting Abstract. 10.1182/blood.V128.22.3802.3802. 2016
Inflammatory amyloid angiopathy
Vazquez-Costa, JF; (...); Vilchez-Padilla, JJ
Letter. 10.1016/j.nrl.2012.06.004. 2014
Inflammatory amyloid angiopathy.
JUAN FRANCISCO VÁZQUEZ COSTA; (...); Vílchez-Padilla, J J
Article. 2012
Influence of ABCB1 polymorphisms upon the effectiveness of standard treatment for acute myeloid leukemia: A systematic review and meta-analysis of observational studies
Megías-Vericat JE; (...); Aliño SF
Review. 10.1038/tpj.2014.80. 2015
Influence of Single Nucleotide Polymorphisms in Anthracycline Metabolism Pathway in Standard Induction of Acute Myeloid Leukemia
Eduardo Megias, Juan; (...); Angel Sanz, Miguel
Meeting Abstract. 2015
Interdisciplinary recommendations document to improve adherence in patients with chronic inflammatory diseases: Adhing recommendations.
Bermejo San José F; (...); Sanromán-Álvarez L
Article. 10.7399/fh.2016.40.5.10180. 2016
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease
Pla-Martín D; (...); Espinós C
Article. 10.1093/hmg/ddu440. 2015
Late-onset Pompe disease presenting as asymptomatic hyperCKemia and early respiratory impairment
Vilchez, J. J.; (...); Martin, P.
Article. 2012
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
Melià MJ; (...); Martí R
Article. 10.1093/brain/awt074. 2013
Long-term follow up of patients with dystrophin deficiency and isolated hyperCKemia
Marti, P; (...); Vilchez, J.
Article. 2015
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations
Natera-de Benito D; (...); Nascimento A
Article. 10.1016/j.nmd.2015.10.013. 2016
Long-term follow-up of patients with dystrophin deficiency and isolated hyperCKemia
Marti, P.; (...); Vilchez, J. J.
Meeting Abstract. 2015
Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.
Querol L; (...); Illa I
Article. 10.1002/mus.23843. 2013
Meta-analysis and systematic review of the effect of the donor and recipient CYP3A5 6986A>G genotype on tacrolimus dose requirements in liver transplantation.
Rojas LE; (...); Aliño SF
Article. 10.1097/FPC.0b013e3283642fb3. 2013
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
Díaz-Manera J; (...); Illa I
Article. 10.1016/j.nmd.2015.10.001. 2016
Muscle MRI and CT help to differentiate between mutations in emerin and lamin A/C gene in patients with Emery Dreifuss clinical phenotypes
Diaz-Manera, J.; (...); Illa, I.
Meeting Abstract. 10.1016/j.nmd.2014.06.173. 2014
MUTATIONS IN MORC2 GENE CAUSE AXONAL CHARCOT-MARIE-TOOTH DISEASE
Sancho, P.; (...); Espinos, C.
Meeting Abstract. 2016
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
Article. 10.1093/brain/awv311. 2016
N. VICTOR JIMENEZ TORRES (1942-2015) IN MEMORIAM
Climente Martí M, Poveda Andrés JL, Culebras J
Biographical-Item. 10.3305/nh.2015.32.4.9704. 2015
Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis
Torres-Vega, E; (...); Bataller, L
Article. 10.1212/WNL.0000000000003778. 2017
NOVEL MUTATIONS IN THE GAMMA CARBOXYLASE GENE CAUSING VKCFD1
Angeles Dasi, M.; (...); Corral, J.
Meeting Abstract. 2014
Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/-Cardiac Myosin (MYH7) Distal Myopathy
Lamont PJ; (...); Laing NG
Article. 10.1002/humu.22553. 2014
Paclitaxel and carboplatin treatment for advanced ovarian cancer during pregnancy.
Ruiz Ramos J; (...); Poveda JL
Article. 10.1159/000360691. 2013
Pharmacogenomics and the treatment of acute myeloid leukemia
Megías-Vericat JE; (...); Aliño SF
Review. 10.2217/pgs-2016-0055. 2016
Pharmacotherapy follow-up of patients under treatment with biologic agents for chronic inflammatory systemic conditions: an agreement among hospital pharmacists for the standardized collection of a minimum set of data.
Calleja Hernández MÁ; (...); Aragon, B
Article. 10.7399/fh.2017.41.1.10463. 2017
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G > A mutation
Frasquet M; (...); Sevilla T
Letter. 10.1136/jnnp-2015-312890. 2016
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up
Natera-de Benito D; (...); Vilchez JJ
Article. 10.1016/j.nmd.2016.08.005. 2016
Physical Activity In Haemophilia: Hemorrhagic Risk And Factor Levels (myPKFiT)
Querol-Fuentes, F; (...); Bonanad, S
Meeting Abstract. 2017
Positive impact of ABCB1 polymorphisms in overall survival and complete remission in acute myeloid leukemia: a systematic review and meta-analysis
Megías-Vericat JE; (...); Aliño SF
Letter. 10.1038/tpj.2015.79. 2016
Primary Lateral Sclerosis and Hereditary Spastic Paraplegia in Sporadic Patients. An important distinction in descriptive studies
Vázquez-Costa JF, Bataller L, Vílchez JJ
Letter. 10.1002/ana.24671. 2016
Prognostic features of LGMD presenting as symptomatic or paucisymptomatic hyperCKemia
Marti, P; (...); Vilchez, J.
Article. 2015
Prognostic Impact of Anthracycline Metabolism Gene Polymorphisms in Newly Diagnosed Acute Myeloid Leukemia Adults
Eduardo Megias, Juan; (...); Angel Sanz, Miguel
Article. 2014
Prognostic Impact of Cytarabine Pathway Gene Polymorphisms in Acute Myeloid Leukemia Adults Undergoing Induction Chemotherapy
Eduardo Megias, Juan; (...); Angel Sanz, Miguel
Article. 2014
PROGNOSTIC IMPACT OF TRANSPORTER GENE POLYMORPHISMS IN NEWLY DIAGNOSED ACUTE MYELOID LEUKEMIA ADULTS
Megias Vericat, J. E.; (...); Sanz, M. A.
Article. 2015
Reduction in alert fatigue in an assisted electronic prescribing system, through the Lean Six Sigma methodology.
Cuéllar Monreal MJ; (...); Poveda Andrés JL
Article. 10.7399/fh.2017.41.1.10434. 2017
Renal Transplantation Recipients with AA Genotype in SNP rs4244285 of CYP2C19 Show An Increase in Hospital Stay Duration and Allograft Dysfunction Probably Due to Increased Tacrolimus Levels Caused by Interaction with Omeprazol
Boso, V; (...); Alino, S. F.
Article. 10.1097/00007890-201211271-01757. 2012
Selective ophthalmic intra-arterial melphalan therapy for advanced retinoblastoma: implementation and outcomes of a new chemotherapy protocol.
Valero García S; (...); Poveda Andrés JL
Article. 10.1177/1078155212457964. 2013
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
Kornak U; (...); Kurth I
Article. 10.1093/brain/awt357. 2014
Serum adalimumab levels predict successful remission and safe de-intensification in inflammatory bowel disease patients in clinical practice
Meeting Abstract. 2017
Single Nucleotide Polymorphisms, SNPs, Associated With the Efficacy and Security of Immunosuppressive Treatment in Heart Transplantation
Sanchez-Lazaro, I.; (...); Salvador-Sanz, A.
Article. 10.1016/j.healun.2014.01.392. 2014
Small fiber neuropathy associated with copper deficiency
Ibanez, M. J.; (...); Vilchez, J. J.
Meeting Abstract. 2015
SNPs and taxane toxicity in breast cancer patients
Bosó V; (...); Aliño SF
Article. 10.2217/PGS.14.127. 2014
Spanish Consensus on the Prevention and Treatment of Pseudomonas aeruginosa Bronchial Infections in Cystic Fibrosis Patients
Cantón R; (...); Solé A
Article. 10.1016/j.arbres.2014.09.021. 2015
Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.
Muelas N; (...); Vílchez JJ
Article. 10.1111/j.1399-0004.2011.01667.x. 2012
Study on the Linezolid Prescription According to the Approval of Indication in a University Hospital
Pérez-Cebrián M; (...); Llopis-González A
Article. 2015
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Evilä A; (...); Udd B
Article. 10.1007/s12035-016-0242-3. 2017
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort
Gutiérrez-Rivas E; (...); Lukacs Z
Article. 10.1016/j.nmd.2015.04.008. 2015
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease
Article. 10.1111/ene.12782. 2015
The natural history of HSJ1-related hereditary neuropathies: a case series of 9 patients with long-term follow-up
Frasquet Carrera, M.; (...); Sevilla, T.
Meeting Abstract. 2015
Trans-arterial chemoembolization with doxorubicin-eluting particles versus conventional trans-arterial chemoembolization in unresectable hepatocellular carcinoma: A study of effectiveness, safety and costs.
Megías Vericat JE; (...); Poveda Andrés JL
Article. 10.1016/j.rx.2015.01.008. 2015
Treatment adherence and other patient-reported outcomes as cost determinants in multiple sclerosis: a review of the literature
Lizan, L; (...); Polanco, C
Review. 10.2147/PPA.S67253. 2014
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy
Buyse, GM; (...); DELOS Study Group
Article. 10.1002/ppul.23547. 2017
Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.
Alejaldre A; (...); Pichiecchio A
Article. 10.1016/j.nmd.2012.05.011. 2012
Use of 2 hydroxypropyl-beta-cyclodextrin therapy in two adult Niemann Pick Type C patients
García-Robles AA; (...); Poveda JL
Letter. 10.1016/j.jns.2016.04.048. 2016
Vestibular and auditory function in patients with Charcot-Marie-Tooth disease due to mutations in the SH3TC2 gene
Sivera, R.; (...); Sevilla, T.
Article. 2013
Vestibular impairment in Charcot-Marie-Tooth disease type 4C
Pérez-Garrigues H; (...); Sevilla T
Letter. 10.1136/jnnp-2013-307421. 2014