Portal de investigación
ESTUDIO EN FASE 2B SOBRE LA EFICACIA Y SEGURIDAD DE PTC124 EN SUJETOS CON DISTROFIA MUSCULAR DE DUCHENNE Y BECKER MEDIADA POR MUTACIÓN TERMINADORA.
Datos básicos
- Código:
- PTC124-GD-007-DMD
- Protocolo:
- PTC124-GD-007-DMD
- EUDRACT:
- 2007-005478-29
- NCT:
- Centro:
- Dotación:
- Año de incio:
- Año de finalización:
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 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 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
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 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 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
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
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
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PlumX Metrics
- Citations
- Citation Indexes: 4
- Policy Citations: 2
- Captures
- Readers: 17
- Mentions
- News Mentions: 1
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
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
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
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
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
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
Genotype and phenotype spectrum of SORD neuropathy
Cortese, A; (...); SORD Nat Hist Study Grp
Meeting Abstract. 2021
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
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
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
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 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
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
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
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
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
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-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
NATURAL HISTORY STUDY OF SORD NEUROPATHY
Cortese, Andrea; (...); Zuchner, Stephan
Meeting Abstract. 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
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
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
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
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome
Vazquez-Costa, JF; (...); SEVILLA, T
Article. 10.3389/fnmol.2021.721047. 2021
Quantitative magnetic resonance imaging assessment of muscle composition in myotonic dystrophy mice
Bargiela, Ariadna; (...); Artero, Ruben
Article. 10.1038/s41598-023-27661-w. 2023
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
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PlumX Metrics
- Citations
- Citation Indexes: 15
- Patent Family Citations: 1
- Policy Citations: 5
- Captures
- Readers: 45
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 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
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PlumX Metrics
- Citations
- Citation Indexes: 34
- Captures
- Readers: 122
- Mentions
- Blog Mentions: 3
- News Mentions: 51
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 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
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
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
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
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
El-Hassar L; (...); Sacconi S
Article. 10.3233/JND-221525. 2022
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
Therapeutic potential of oleic acid supplementation in myotonic dystrophy muscle cell models.
Moreno, Nerea; (...); Artero, Ruben
Article. 10.1186/s40659-024-00496-z. 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
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
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 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
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
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