Portal de investigación
ESTUDIO MULTICÉNTRICO, ALEATORIZADO, DE GRUPOS PARALELOS, DOBLE CIEGO, DE DOSIS MÚLTIPLES Y CONTROLADO CON PLACEBO PARA EVALUAR LA EFICACIA Y LA SEGURIDAD DE MNK-1411 EN VARONES DE 4 A 8 AÑOS DE EDAD CON DISTROFIA MUSCULAR DE DUCHENNE.
Datos básicos
- Protocolo:
- MNK14112096
- EUDRACT:
- 2017-004139-35
- NCT:
- Centro:
- HOSPITAL UNIVERSITARI I POLITÈCNIC LA FE
- Año de incio:
- 2018
- Año de finalización:
- 2021
Documentos
- No hay documentos
Participantes
Grupos
Financiadores - Promotores
Resultados del Ensayo Clínico
[Translated article] Cybersecurity: a priority for pharmacy services in the age of artificial intelligence
Marin, Cayetano M. Hernandez, Monte-Boquet, Emilio, Andres, Jose Luis Poveda
Editorial Material. 10.1016/j.farma.2024.08.009. 2024
[Translated article] Good humanisation practices in the healthcare of patients with rare diseases in Pharmacy Services
Company Albir MJ, Andrés JLP, Solsona MDE
Article. 10.1016/j.farma.2023.10.004. 2024
[Translated article] New challenges in advanced therapies.
Megías-Vericat JE; (...); Poveda Andrés JL
Article. 10.1016/j.farma.2024.05.001. 2024
[Translated article] Pharmacokinetic-guided switching from standard half-life factor VIII to extended half-life pegylated factor VIII in haemophilia A therapy in clinical practice.
Chovi-Trull, Maria; (...); Andres, Jose Luis Poveda
Article. 10.1016/j.farma.2024.12.007. 2025
[Translated article] Real-world effectiveness and safety of nivolumab in patients with relapsed or refractory classical Hodgkin lymphoma.
Fernandez, Laura Lorente; (...); Andres, Jose Luis Poveda
Article. 10.1016/j.farma.2024.09.006. 2024
24,25(OH)(2)D-3: A NOVEL ACCURATE INDICATOR OF OVARIAN VITAMIN D STATUS IN WOMEN AT REPRODUCTIVE AGE.
EVELIN ELSBIET LARA MOLINA; (...); ANTONIO PELLICER MARTÍNEZ
Meeting Abstract. 2018
A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain
Zozaya, Neboa; (...); Hidalgo-Vega, Alvaro
Article. 10.33393/grhta.2022.2333. 2022
A multi-criteria decision analysis on the value of nintedanib for interstitial lung diseases.
Zozaya, Neboa; (...); Verde, Luis
Article. 10.1017/S0266462322000459. 2022
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 Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Cabrera-Serrano, M; (...); Paradas, C
Article. 10.1212/WNL.0000000000005862. 2018
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.
Meeting Abstract. 2019
Altered intestinal permeability in patients with LTP allergy
Stein, CI; (...); Hernandez, D
Meeting Abstract. 2019
Allergy evaluation in patients with selective hypersensitivity to clavulanate
Sanchez, LL; (...); De Rojas, DHF
Meeting Abstract. 2019
Analysis of chemical contamination by hazardous drugs with BD HD Check(R) system in a tertiary hospital
Valero García S; (...); Poveda Andrés JL
Article. 10.1177/10781552211038518. 2021
Analysis of Juvenile Onset Pompe Disease patients included in the Spanish Pompe Registry
Martinez Marin, R.; (...); Diaz Manera, J.
Meeting Abstract. 2022
Analysis of Juvenile onset Pompe disease patients included in the Spanish Pompe Registry
Martinez Marin, R.; (...); Diaz Manera, J.
Meeting Abstract. 10.1016/j.nmd.2022.07.144. 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
Angioedema in patients with urticaria is associated with an increase in thrombin generation peak
Valle, DGK; (...); Rosales, SN
Meeting Abstract. 2018
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
Assessing the value of moderate-to-severe atopic dermatitis treatment using multi-criteria decision analysis (MCDA).
Pereyra-Rodríguez JJ; (...); Ortiz de Frutos FJ
Letter. 10.1111/jdv.19432. 2023
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
Baricitinib against severe COVID-19: effectiveness and safety in hospitalised pretreated patients.
Iglesias Gómez R; (...); Poveda Andrés JL
Article. 10.1136/ejhpharm-2021-002741. 2021
Bioavailability of once-daily tacrolimus formulations used in clinical practice in the management of De Novo kidney transplant recipients: the better study.
Fernandez Rivera C; (...); Hernandez D
Article. 10.1111/ctr.14550. 2022
Cardiac phenotype in glycogen storage disease type XV: a rare cardiomyopathy to bear in mind.
Mancheño N; (...); Zorio, Esther
Letter. 10.1016/j.recesp.2020.05.033. 2021
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F; (...); Domínguez-González C
Article. 10.1212/NXG.0000000000200138. 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 and genetic spectrum of a large cohort of patients with delta-sarcoglycan muscular dystrophy.
Alonso-Perez, Jorge; (...); Diaz-Manera, Jordi
Article. 10.1093/brain/awab301. 2021
Clinical benefits of a Bayesian model for plasma-derived factor VIII/VWF after one year of pharmacokinetic-guided prophylaxis in severe/moderate hemophilia A patients
Megias-Vericat, JE; (...); Poveda, JL
Article. 10.1016/j.thromres.2021.07.009. 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, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
Bermejo-Guerrero, Laura; (...); Martin, Miguel A.
Article. 10.3390/jcm11010022. 2021
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Rodriguez-Lopez, C; (...); Dominguez-Gonzalez, C
Article. 10.1136/jmedgenet-2019-106649. 2020
Consensus recommendations for the improvement of inter- and intra-centre care coordination in the management of hemophilia.
Montoro-Ronsano JB; (...); Soto-Ortega I
Article. 10.1016/j.farma.2023.01.003. 2023
Consensus recommendations for the improvement of inter- and intra-centre care coordination in the management of hemophilia.
Montoro-Ronsano, Jose Bruno; (...); Soto-Ortega, Inmaculada
Article. 10.1016/j.farma.2023.04.002. 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
COST-EFFECTIVENESS ANALYSIS OF DIFELIKEFALIN FOR THE TREATMENT OF CHRONIC KIDNEY DISEASE ASSOCIATED-PRURITUS IN SPAIN
Sanchez-Alvarez, Emilio E.; (...); Hernaez Colque, M.
Meeting Abstract. 2024
Costs of the management of hemophilia A with inhibitors in Spain
Bonanad, S; (...); Gonzalez-Dominguez, A
Article. 10.33393/grhta.2021.2234. 2021
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
CuidAME: a new registry for longitudinal data collection of Spanish SMA patients
Segovia, S; (...); Nascimento, A
Meeting Abstract. 10.1016/j.nmd.2021.07.284. 2021
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
Cybersecurity, a priority for pharmacy services in the age of artificial intelligence.
Hernández Marín CM, Monte-Boquet E, Poveda Andrés JL
Editorial Material. 10.1016/j.farma.2024.08.001. 2024
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
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
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus)
Pitarch Castellano, I; (...); Vazquez-Costa, J. F.
Article. 10.1016/j.nrl.2021.07.008. 2022
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).
Pitarch Castellano I; (...); Vázquez-Costa JF
Practice Guideline. 10.1016/j.nrleng.2021.07.002. 2022
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
Martinez-Marin, Rafael Jenaro; (...); Diaz-Manera, Jordi
Article. 10.1016/j.nmd.2023.10.001. 2024
Design and rationale for a real-world prospective, multicenter registry of myocardial revascularization failure and secondary revascularization: The REVASEC study.
Salinas P; (...); Escaned J
Article. 10.1016/j.carrev.2021.11.015. 2021
Design of a Phase 2, Randomized, Double-Blind, Placebo-Controlled, 24-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects with Facioscapulohumeral Muscular Dystrophy (FSHD): ReDUX4
Tawil, A; (...); Cadavid, D
Meeting Abstract. 2020
Determining value in the treatment of activated PI3Kdelta syndrome in Spain: a multicriteria decision analysis from the perspective of key stakeholders.
Abad, Maria Reyes; (...); Gil, Alicia
Article. 10.33393/grhta.2024.3041. 2024
Determining what represents value in the treatment of prurigo nodularis and its key unmet needs in Spain through Multi-Criteria Decision Analysis
Silvestre, Juan Francisco; (...); Serra-Baldrich, Esther
Article. 10.1002/jvc2.275. 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
Diagnostic yield of an NGS panel of muscle genes in a Reference Unit in Neuromuscular Diseases
Marti, P; (...); Vilchez, J. J.
Meeting Abstract. 2020
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
Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation.
Frasquet, Marina; (...); Lupo, Vincenzo
Article. 10.1111/ene.14700. 2021
Dystrophinopathic subjects with a specific mega-deletion of exons 45-55 in the DMD gene, as a template for CRISPR/Cas9 therapy in Duchenne muscular dystrophy
Poyatos-Garcia, J; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2019.06.404. 2019
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 2022
Effectiveness of Caplacizumab Nanobody in Acquired Thrombotic Thrombocytopenic Purpura Refractory to Conventional Treatment
Palanques-Pastor T; (...); Poveda Andrés JL
Article. 10.1159/000517813. 2021
European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia.
Kyriakides T; (...); Hilton-Jones D
Letter. 10.1002/mus.26777. 2020
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
Article. 10.1212/WNL.0000000000209174. 2024
Family with a new mutation in the DES gene of autosomal recessive transmission
Marti, P; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2018.06.299. 2018
Fetal exposure to tofacitinib during the first trimester: A healthy newborn case report
Fernandez-Sanchez, M; (...); Poveda-Andres, JL
Article. 10.1002/bdr2.1942. 2021
Genetic Variants Associated with Biological Treatment Response in Inflammatory Bowel Disease: A Systematic Review.
Plaza J; (...); Moret-Tatay I
Article. 10.3390/ijms25073717. 2024
Genotype-phenotype correlations in recessive titinopathies.
Savarese M; (...); Udd B
Article. 10.1038/s41436-020-0914-2. 2020
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava, Marianela; (...); Diaz-Manera, Jordi
Article. 10.1136/jnnp-2022-328921. 2022
Givinostat in DMD: results of the Epidys Study
Mercuri, E.; (...); McDonald, C.
Meeting Abstract. 10.1016/j.nmd.2022.07.223. 2022
Guide to Good Humanization Practices in Patients with Rare Diseases. who vadis
Editorial Material. 2022
Healthcare Resource Utilization among Patients between 60-75 Years with Secondary Acute Myeloid Leukemia Receiving Intensive Chemotherapy Induction: A Spanish Retrospective Observational Study
Solana-Altabella, Antonio; (...); Martinez-Cuadron, David
Article. 10.3390/cancers14081921. 2022
High incidence of pulmonary thromboembolism in hospitalized SARS-CoV-2 infected patients despite thrombo-prophylaxis.
El-Qutob D; (...); Carrera-Hueso FJ
Article. 10.1016/j.hrtlng.2022.02.003. 2022
HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe
Vicente, LM; (...); VILCHEZ, JJ
Letter. 10.1016/j.jns.2020.116875. 2020
Hospital pharmacy initiatives for improving the management of patients with congenital coagulopathies
Bruno Montoro-Ronsano, Jose; (...); Alberto Vella, Vincenzo
Article. 10.7399/fh.11729. 2022
Hospitalization budget impact during the COVID-19 pandemic in Spain.
Carrera-Hueso, F. J.; (...); Crespo-Palomo, C.
Article. 10.1186/s13561-021-00340-0. 2021
How can artificial intelligence optimize value-based contracting?
Poveda, Jose Luis; (...); Medrano, Ignacio H.
Letter. 10.1186/s40545-022-00475-3. 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
Identification of the missing causative mutations in monoallelic cases of late-onset Pompe disease (LOPD)
Gandia, M; (...); del Castillo, FJ
Meeting Abstract. 10.1016/j.ymgme.2019.11.138. 2020
Immune-mediated necrotising inflammatory myopathy. A rare side effect of statins.
Alarcon Chulilla, Mara; (...); Real Collado, Jose Tomas
Article. 10.1016/j.endien.2022.10.001. 2022
Impact of NGS on HyperCKemia diagnosis
Marti, P; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2019.06.506. 2019
Implication of the breakpoints position in patients with the macrodeletion of exons 45 to 55 in the DMD gene
Poyatos-Garcia, J; (...); Vilchez, JJ
Meeting Abstract. 2019
Influence of polymorphisms in anthracyclines metabolism genes in the standard induction chemotherapy of acute myeloid leukemia.
Megías-Vericat JE; (...); Montesinos P
Article. 10.1097/FPC.0000000000000431. 2021
Influence of the intronic breakpoint of the DYS 45-55 exon deletion on the clinical phenotype
Poyatos, J; (...); Vilchez, J
Meeting Abstract. 10.1016/j.nmd.2018.06.270. 2018
Insights into phenotypic variability caused by GARS1 pathogenic variants.
Jiménez-Jiménez J; (...); Sivera R
Article. 10.1111/ene.16416. 2024
Is erenumab an efficient alternative for the prevention of episodic and chronic migraine in Spain? Results of a cost-effectiveness analysis.
Pozo-Rosich P; (...); Irimia P
Article. 10.1186/s10194-024-01747-w. 2024
Isavuconazole Pharmacokinetics in Critically Ill Patients: Relationship with Clinical Effectiveness and Patient Safety.
Martin-Cerezuela, Maria; (...); Ramirez Galleymore, Paula
Article. 10.3390/antibiotics13080706. 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
KY mutations are a cause of distal neuromyopathies
Muelas, N.; (...); Vilchez, J.
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
Long-Term Outcomes with Subcutaneous C1-Inhibitor Replacement Therapy for Prevention of Hereditary Angioedema Attacks
Zuraw, B; (...); COMPACT Investigators
Article. 10.1016/j.jaip.2019.01.054. 2019
Management of flexible cavovarus foot in patients with Charcot-Marie-Tooth disease: midterm results.
Megías-Vericat JE; (...); Poveda-Andrés JL
Article. 2021
Manipulación de fármacos para su administración por gastrostomía endoscópica percutánea en pacientes con esclerosis lateral amiotrófica y nutrición enteral.
Vázquez Polo A; (...); Vázquez Costa JF
Article. 10.20960/nh.03946. 2022
Matching-Adjusted Indirect Comparison of Efficacy and Consumption of rVIII-SingleChain Versus Two Recombinant FVIII Products Used for Prophylactic Treatment of Adults/Adolescents with Severe Haemophilia A
Bonanad, S; (...); Santos, S
Article. 10.1007/s12325-021-01853-0. 2021
MEASURING THE EXPERIENCE OF LIVING WITH SPINAL MUSCULAR ATROPHY: THE ROLE OF THE SMA INDEPENDENCE SCALE
Vazquez, J. F.; (...); Madruga, M.
Meeting Abstract. 2022
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
Campbell, C; (...); Clinical Evaluator Training Grp
Article. 10.2217/cer-2020-0095. 2020
Metabolic Phenotyping in Prostate Cancer Using Multi-Omics Approaches.
Gomez-Cebrian, Nuria; (...); Puchades-Carrasco, Leonor
Article. 10.3390/cancers14030596. 2022
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.
Dominguez-Gonzalez, Cristina; (...); Martin, Miguel Angel
Article. 10.1016/j.nmd.2022.07.399. 2022
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
Monitoring contamination of hazardous drug compounding surfaces at hospital pharmacy departments. A consensus Statement. Practice guidelines of the Spanish Society of Hospital Pharmacists (SEFH).
Valero-García S; (...); Delgado-Sánchez O
Article. 10.7399/fh.11655. 2021
Multi-Omic Approaches to Breast Cancer Metabolic Phenotyping: Applications in Diagnosis, Prognosis, and the Development of Novel Treatments
Gomez-Cebrian, N; (...); Pineda-Lucena, A
Review. 10.3390/cancers13184544. 2021
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
Dominguez-Gonzalez, C; (...); Paradas, C
Meeting Abstract. 10.1016/j.nmd.2021.07.358. 2021
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
Dominguez-Gonzalez, Cristina; (...); Paradas, Carmen
Article. 10.1007/s00415-021-10957-0. 2022
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Alonso-Jimenez, A; (...); Diaz-Manera, J
Article. 10.1136/jnnp-2018-319578. 2019
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
National Survey of the SEFH-2019: portfolio of services, healthcare activity, teaching and research in Hospital Pharmacy Services in Spain (vol 45, pg 32, 2021)
Perez-Encinas, Montserrat; (...); Angel Calleja-Hernandez, Miguel
Correction. 10.7399/fh.11740. 2021
National Survey on the Use of Mobile Applications in Patients with Hemophilia and Other Coagulopathies
Eduardo Megias, Juan; (...); Poveda Andres, Jose Luis
Meeting Abstract. 10.1182/blood-2022-169938. 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 challenges of advanced therapies.
Megías-Vericat JE; (...); Poveda Andrés JL
Article. 10.1016/j.farma.2023.11.008. 2024
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
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy
Moreau-Le Lan, S; (...); Pedrola, L
Article. 10.1371/journal.pone.0207296. 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
Observational study to evaluate discontinuation of monotherapy with cobicistat-boosted darunavir in patients with human immunodeficiency virus
Solana-Altabella, Antonio; (...); Poveda-Andres, Jose Luis
Article. 10.1097/MD.0000000000032208. 2022
ODs with a positive TPR conclusion, not subject to a conditional approval, and approved without requering a pass would be more likely to be reimbursed in Spain.
Poveda JL; (...); Badia X
Article. 10.1186/s13023-022-02610-4. 2023
Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes
Gomez-Cebrian, Nuria; (...); Puchades-Carrasco, Leonor
Review. 10.3390/biology12091159. 2023
Onasemnogene Abeparvovec Administration via Peripherally Inserted Central Catheter: A Case Report.
Pitarch Castellano, Inmaculada; (...); Poveda Andres, Jose L
Case Reports. 10.3390/children11050590. 2024
OPTIMIZING MANAGEMENT AND OUTCOMES OF ACTIVATED PHOSPHOINOSITIDE 3-KINASE DELTA SYNDROME (APDS) IN SPAIN: BEWAYAPDS PROJECT
Flores-Moreno, S.; (...); Gil, A.
Meeting Abstract. 2024
Outcome of patients with sustained hyperCKemia after statin treatment
Muelas, N; (...); Vilchez, JJ
Meeting Abstract. 2019
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
Paracetamol vs. Ibuprofen in Preterm Infants With Hemodynamically Significant Patent Ductus Arteriosus: A Non-inferiority Randomized Clinical Trial Protocol (vol 8, 372, 2020)
Garcia-Robles, Ana; (...); Aguar Carrascosa, Marta
Correction. 10.3389/fped.2021.834454. 2022
Patient and health practitioner perceptions about the role of hospital pharmacists along the care continuum: the Fharmaconectados Project
Morillo-Verdugo, R; (...); Diaz-Olmo, J
Article. 10.7399/fh.11719. 2021
Patient and health practitioner perceptions about the role of hospital pharmacists along the care continuum: the Fharmaconectados Project.
Morillo-Verdugo R; (...); Díaz-Olmo J
Article. 2021
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Argente-Escrig H; (...); Sevilla T
Article. 10.1002/acn3.51432. 2021
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum
Panades-de Oliveira, L; (...); Dominguez-Gonzalez, C
Article. 10.1007/s00415-020-09872-7. 2020
Pharmacogenetics in Response to Biological Agents in Inflammatory Bowel Disease: A Systematic Review.
Ballesta-Lopez, Octavio; (...); Poveda-Andres, Jose Luis
Article. 10.3390/ijms26041760. 2025
Pharmacometabolomics by NMR in Oncology: A Systematic Review.
Gómez-Cebrián N; (...); Pineda-Lucena A
Article. 10.3390/ph14101015. 2021
Pharmacotherapeutic management of advanced therapy medicinal products
Luis Poveda-Andres, Jose; (...); Valero-Garcia, Silvia
Article. 10.7399/fh.13036. 2022
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
Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome.
Argente-Escrig H; (...); Schröder R
Letter. 10.1111/nan.12652. 2020
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, a-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E; (...); Paradas C
Article. 10.1007/s00401-019-02117-6. 2020
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
Preparation and administration of insulin infusions in neonatology: A national survey.
Garcia-Robles, Ana; (...); Aguar Carrascosa, Marta
Article. 10.1016/j.anpede.2020.06.015. 2021
Presence of good humanization practices in the healthcare of patients with rare diseases in Pharmacy Services
Company Albir MJ, Poveda Andrés JL, Edo Solsona MD
Article. 10.1016/j.farma.2023.06.0131130. 2024
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
Reasons for noncompliance with the national guidelines for initial antiretroviral therapy of HIV-infected patients in Spain, 2010-2015
Gonzalez, J; (...); Cohort Spanish HIV Res Network Co
Article. 10.1016/j.eimc.2019.02.007. 2019
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
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
Safety and tolerability of a subcutaneous vaccine (SCIT) with native extract of Parietaria judaica
Enrique, E; (...); Madariaga, B
Meeting Abstract. 2018
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Toepf, Ana; (...); Consortium, Myo-Seq
Article. 2020
Short-term and long-term safety profile of Givinostat in Duchenne muscular dystrophy
Vucinic, D.; (...); Muelas, N.
Meeting Abstract. 10.1016/j.nmd.2024.07.289. 2024
SMPTall man lettering application in medication information systems as a quality and safety strategy in hospital organization
Iglesias Gomez, Ruben; (...); Poveda Andres, Jose Luis
Article. 10.1111/jcpt.13703. 2022
Spanish family with scapulo-peroneal myopathy due to HNRNPDL mutation: the first European family
Martinez Vicente, L.; (...); Vilchez, J. J.
Meeting Abstract. 2020
Spanish Pompe registry: analysis of the first 100 patients included
Reyes-Leiva, D; (...); S Spanish Pompe Study Grp
Meeting Abstract. 10.1016/j.nmd.2021.07.224. 2021
Spanish Pompe Registry: New data based on the 130 patients included
Marin, R. Martinez; (...); Manera, J. Diaz
Meeting Abstract. 2023
Spanish Pompe registry: new data based on the 130 patients included
Martinez Marin, R.; (...); Manera, J. Diaz
Meeting Abstract. 10.1016/j.nmd.2023.07.343. 2023
Spanish Pompe Registry: overview based on the 130 patients included
Marin, R. Martinez; (...); Manera, J. Diaz
Meeting Abstract. 10.1016/j.nmd.2024.07.732. 2024
Spanish Pompe Registry: Update of the 122 patients included
Martinez Marin, R.; (...); Diaz Manera, J.
Meeting Abstract. 10.1016/j.nmd.2022.07.145. 2022
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
Baviera-Munoz, Raquel; (...); Bataller, Luis
Article. 10.1002/mdc3.13740. 2023
Stereotactic Body Radiotherapy for Early Stage Lung Cancer: A Multicentric Study
Samper Ots, P. M.; (...); Albiach, C. F.
Meeting Abstract. 10.1016/j.ijrobp.2019.06.2435. 2019
Systematic Review of Pharmacogenetics of ABC and SLC Transporter Genes in Acute Myeloid Leukemia
Megías-Vericat JE; (...); Montesinos P
Review. 10.3390/pharmaceutics14040878. 2022
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
El-Hassar L; (...); Sacconi S
Article. 10.3233/JND-221525. 2022
The association of salivary caffeine levels with serum concentrations in premature infants with apnea of prematurity
Garcia-Robles, Ana; (...); Saenz Gonzalez, Pilar
Article. 10.1007/s00431-022-04628-z. 2022
The contribution of fenfluramine to the treatment of Dravet syndrome in Spain through Multi-Criteria Decision Analysis.
Gil-Nagel A; (...); Gil A
Article. 10.1016/j.yebeh.2022.108711. 2022
The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection
Rodriguez-Mora, Sara; (...); Alcami, Jose
Article. 2019
The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.
Rodríguez-Mora S; (...); Alcamí J
Article. 10.1371/journal.ppat.1007958. 2019
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 value of the reflective discussion in decision-making using multi-criteria decision analysis (MCDA): an example of determining the value contribution of tabelecleucel for the treatment of the Epstein Barr virus-positive post-transplant lymphoproliferative disease (EBV+ PTLD).
Badia, Xavier; (...); Valles, Joan-Antoni
Article. 10.1186/s13023-024-03324-5. 2024
Toxic-metabolic encephalopathy induced by metronidazole and disulfiram: classics never die.
Chovi-Trull, Maria; (...); Poveda-Andres, Jose Luis
Article. 10.1136/ejhpharm-2024-004184. 2024
Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection
Diez-Fuertes F; (...); Rodríguez-Mora S
Article. 10.3389/fcell.2022.839813. 2022
Treatment of spinal muscular atrophy in European countries: A call to action
Vazquez-Costa, Juan F.; (...); Cattinari, Maria Grazia
Article. 10.1111/ene.15522. 2022
Ultrasound-guided lumbar puncture for nusinersen administration in spinal muscular atrophy patients.
Veiga-Canuto D; (...); Aparici F
Article. 10.1111/ene.14586. 2021
Upper and/or lower respiratory tract infection caused by human metapneumovirus after allogeneic stem cell transplantation
JOSÉ LUIS PIÑANA SÁNCHEZ; (...); De la Camara, R.
Meeting Abstract. 2022
Use of NGS for diagnosis of asymptomatic hyperCKemia in childhood
Marti, P; (...); VILCHEZ, J
Meeting Abstract. 10.1016/j.nmd.2021.07.340. 2021
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 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.
Cortes, P Lizandra; (...); Vázquez-Costa JF
Article. 10.1016/j.nrleng.2022.05.001. 2022
VALUE CRITERIA FOR OUTCOMES BASED MANAGED ENTRY AGREEMENT OF CAR-T IN RELAPSED OR REFRACTORY MULTIPLE MYELOMA (RRMM) THROUGH MCDA
Poveda, J. L.; (...); Lizan, L.
Meeting Abstract. 2023
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