Portal de investigación
BÚSQUEDA DE BIOMARCADORES DE RESPUESTA AL TRATAMIENTO EN PACIENTES CON ATROFIA MUSCULAR ESPINAL.
Datos básicos
- Código:
- 2020_367-1_CRC_MUTUA MADRILEÑA_GARCÍA
- Protocolo:
- 2020_367-1_CRC_MUTUA MADRILEÑA_GARCÍA
- EUDRACT:
- NCT:
- Centro:
- Dotación:
- 100.000,00 €
- Año de incio:
- 2020
- Año de finalización:
- 2025
Documentos
- No hay documentos
Participantes
Grupos
Financiadores - Promotores
Resultados del Ensayo Clínico
CPH-RP variants disrupt ciliogenesis of the retinal pigment epithelium: a novel cause of retinitis pigmentosa
Kalatzis, Vasiliki; (...); Perron, Muriel
Meeting Abstract. 2023
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
Advances in the early diagnosis of amyotrophic lateral sclerosis.
Garcia-Casanova, Pilar H, Vazquez-Costa, Juan F
Article. 10.1080/14737175.2025.2471556. 2025
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
Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?
Blanco-Máñez R; (...); Vera-Sempere F
Article. 10.3390/diagnostics12010129. 2022
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chediak-Higashi Syndrome.
Boluda-Navarro, Mireia; (...); Cervera, Jose Vicente
Article. 10.3389/fimmu.2021.625591. 2021
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J; (...); Lapunzina P
Article. 10.1111/cge.14113. 2022
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 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 trials in pediatric ALS: a TRICALS feasibility study.
Kliest T; (...); Van Den Berg LH
Article. 10.1080/21678421.2021.2024856. 2022
Concomitant mutations in inherited retinal dystrophies: why the reproductive and therapeutic counselling should be addressed cautiously.
Rodriguez-Munoz, Ana; (...); Millan, Jose
Article. 10.1097/IAE.0000000000003103. 2021
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
Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans.
Gomez-Escribano, Ana P.; (...); Vazquez-Manrique, Rafael P.
Article. 10.15252/embr.202255556. 2023
Changes in sleep-disordered breathing from the acute to the stable phase of pulmonary embolism and impact of right ventricular dysfunction: preliminary findings of ESAET study
Ortega, AG; (...); Martinez-Garcia, MA
Meeting Abstract. 10.1183/13993003.congress-2020.4974. 2020
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
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Esteve-Garcia A; (...); Aguilera C
Article. 10.3389/fgene.2024.1352063. 2024
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco-Perez, Laura; (...); Tizzano, Eduardo F.
Article. 10.3390/ijms23158289. 2022
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
Descriptive analysis of the spinal muscular atrophy population treated with Nusinersen included in the CuidAME project
Sotoca Fernandez, J.; (...); Fernandez-Garcia, M.
Meeting Abstract. 10.1016/j.nmd.2024.07.462. 2024
Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol
Rebollo, Pablo; (...); Vazquez-Costa, Juan F.
Article. 10.1007/s40120-023-00571-9. 2024
Design of a Non-Interventional Study to Validate a Set of Patient- and Caregiver-Oriented Measurements to Assess Health Outcomes in Spinal Muscular Atrophy (SMA-TOOL Study).
Madruga-Garrido M; (...); Maurino J
Article. 10.1007/s40120-020-00229-w. 2021
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
Do we really need to calculate a minimal important difference for ALSFRS-R?: A letter in response to 'Clinically meaningful change: evaluation of the Rasch-built Overall Amyotrophic Lateral Sclerosis Disability Scale (ROADS) and the ALSFRS-R' published in Vol. 24(3-4), pp. 311-316
Article. 10.1080/21678421.2023.2248199. 2024
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 2022
Editorial: Inherited retinal dystrophies: a light at the end of the tunnel?
Perkins, Brian D.; (...); Millan, Jose M.
Editorial Material. 10.3389/fcell.2023.1301279. 2023
Epilepsy, status epilepticus, and hemiplegic migraine coexisting with a novel SLC4A4 mutation.
Gil-Perotín S; (...); Díaz S
Article. 10.1007/s10072-020-04961-x. 2021
Estimation of the prevalence and incidence of motor neuron diseases in two Spanish regions: Catalonia and Valencia.
Barceló MA; (...); Saez M
Article. 10.1038/s41598-021-85395-z. 2021
Evaluation of machine learning models for the detection of familial predisposition in Meniere's disease
Roman-Naranjo, Pablo; (...); Lopez-Escamez, Antonio
Meeting Abstract. 2024
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
Garcia-Bohorquez, Belen; (...); Millan, Jose M
Article. 10.1016/j.omtn.2024.102374. 2024
Facial Onset Sensory and Motor Neuronopathy New Cases, Cognitive Changes, and Pathophysiology
de Boer, EMJ; (...); van Es, MA
Review. 10.1212/CPJ.0000000000000834. 2021
Fatigue, pain, breathing, voice, fatigability, sleep, rest and vulnerability as meaningful outcomes in SMA care: the patients ' and caregivers' voice
Povedano, M.; (...); Rebollo, P.
Meeting Abstract. 10.1016/j.nmd.2022.07.209. 2022
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Rodriguez-Munoz, Ana; (...); Garcia-Garcia, Gema
Article. 10.1038/s41598-021-03925-1. 2022
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
del Carmen Ortuno-Costela, Maria; (...); Esther Gallardo, Maria
Article. 10.3390/ijms232213964. 2022
Genetic diagnostic of inherited retinal dystrophies through clinical exome sequencing
Barberan-Martinez, Pilar; (...); Millan, Jose M.
Meeting Abstract. 2024
Genetic Testing for Rare Diseases
Millan, Jose M., Garcia-Garcia, Gema
Article. 10.3390/diagnostics12040809. 2022
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2
Stemerdink M; (...); Millan JM
Article. 10.1007/s00439-021-02324-w. 2021
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Galbis-Martínez L; (...); Ayuso C
Article. 10.1111/aos.14795. 2021
Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dystonia with Prominent Cranio-Cervical Involvement
Campins-Romeu, M; (...); Martinez-Torres, I
Letter. 10.1002/mdc3.13257. 2021
Identification of Novel microRNA Profiles Dysregulated in Plasma and Tissue of Abdominal Aortic Aneurysm Patients
Plana E; (...); Miralles M
Article. 10.3390/ijms21134600. 2020
Imaging Biomarkers in Amyotrophic Lateral Sclerosis
Cerda Alberich, Leonor; (...); Marti-Bonmati, Luis
Editorial Material. 10.1007/978-1-0716-1712-0_20. 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
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era.
Walter MC; (...); Servais L
Article. 10.3233/JND-200611. 2021
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
Garcia-Garcia, Gema; (...); Aller, Elena
Article. 10.3390/genes11121467. 2020
Increase of Neutrophil Activation Markers in Venous Thrombosis-Contribution of Circulating Activated Protein C
Martos L; (...); Medina P
Article. 10.3390/ijms21165651. 2020
Insights into phenotypic variability caused by GARS1 pathogenic variants.
Jiménez-Jiménez J; (...); Sivera R
Article. 10.1111/ene.16416. 2024
Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.
Borrego-Hernandez, Daniel; (...); Garcia-Redondo, Alberto
Article. 10.3390/biomedicines12020356. 2024
Intravitreal administration of adalimumab delays retinal degeneration in rd10 mice.
Olivares-González L; (...); Rodrigo R
Article. 10.1096/fj.202000044RR. 2020
La reserva cognitiva como factor modulador del impacto de la cirugía sobre la memoria visual y la denominación en pacientes con epilepsia del lóbulo temporal.
Cano-Lopez, I; (...); Gonzalez-Bono, E
Article. 10.33588/rn.7308.2021109. 2021
Lifesaving Treatments for Spinal Muscular Atrophy: Global Access and Availability
Armengol, Victor D.; (...); Roy, Bhaskar
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
Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in Caenorhabditis elegans
Tortajada-Perez, Julia; (...); Vazquez-Manrique, Rafael Pascual
Review. 10.3390/antiox14010078. 2025
Long-read sequencing for improving the characterization of rare inherited eye diseases
Rodilla, Cristina; (...); Ayuso, Carmen
Meeting Abstract. 2024
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
MEASURING THE EXPERIENCE OF LIVING WITH SPINAL MUSCULAR ATROPHY: THE ROLE OF THE SMA INDEPENDENCE SCALE
Vazquez, J. F.; (...); Madruga, M.
Meeting Abstract. 2022
Metformin to treat Huntington disease: a pleiotropic drug against a multi-system disorder.
Trujillo-Del Río C; (...); Vázquez-Manrique RP
Article. 10.1016/j.mad.2022.111670. 2022
Minimal detectable change and minimal clinically important difference in spinal muscular atrophy patients.
Vázquez-Costa JF, Hervás D
Letter. 10.1111/ene.14780. 2021
miRNAs and Genes Involved in the Interplay between Ocular Hypertension and Primary Open-Angle Glaucoma. Oxidative Stress, Inflammation, and Apoptosis Networks
Raga-Cervera, J; (...); Zanon-Moreno, V
Article. 10.3390/jcm10112227. 2021
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
Modeling a Novel Variant of Glycogenosis IXa Using a Clonal Inducible Reprogramming System to Generate "Diseased" Hepatocytes for Accurate Diagnosis.
Garcia-Llorens, Guillem; (...); Bort, Roque
Article. 10.3390/jpm12071111. 2022
MODELING OF IDH2 GENE MUTATIONS IN THE CAENORHABDITIS ELEGANS ORGANISM. DEVELOPMENT OF A NEW STUDY MODEL
Gonzalez-Romero, E.; (...); Cervera-Zamora, J.
Meeting Abstract. 2021
Moral reasoning and moral conflict in patients of the amyotrophic lateral sclerosis - Frontotemporal dementia spectrum.
Serrano-Pastor, Lucas; (...); Vazquez-Costa, Juan F
Article. 10.1080/17470919.2020.1850521. 2020
Natural history data in adults with SMA
Letter. 10.1016/S1474-4422(20)30183-6. 2020
Neurodegeneration Biomarkers in Adult Spinal Muscular Atrophy (SMA) Patients Treated with Nusinersen
Andres-Benito, Pol; (...); Povedano, Monica
Article. 10.3390/ijms25073810. 2024
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
NUTRARET: Effect of 2-Year Nutraceutical Supplementation on Redox Status and Visual Function of Patients With Retinitis Pigmentosa: A Randomized, Double-Blind, Placebo-Controlled Trial
Olivares-Gonzalez, Lorena; (...); Rodrigo, Regina
Article. 10.3389/fnut.2022.847910. 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
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
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
González-Romero E; (...); Vázquez-Manrique RP
Article. 10.3390/cancers15174263. 2023
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center
Argente-Escrig H; (...); Sevilla T
Article. 10.1002/acn3.51432. 2021
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
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome
Vazquez-Costa, JF; (...); SEVILLA, T
Article. 10.3389/fnmol.2021.721047. 2021
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients.
Bea-Mascato B; (...); Valverde D
Article. 10.3390/genes12020282. 2021
Reactive Species in Huntington Disease: Are They Really the Radicals You Want to Catch?
Bono-Yagüe J; (...); Vázquez-Manrique RP
Review. 10.3390/antiox9070577. 2020
Redox Status in Retinitis Pigmentosa.
Olivares-González L; (...); Rodrigo R
Article. 10.1007/978-3-031-27681-1_65. 2023
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
Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations.
Schroth, Mary; (...); Vazquez-Costa, Juan F.
Article. 10.1212/CPJ.0000000000200310. 2024
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain
Baviera-Munoz, Raquel; (...); Bataller, Luis
Article. 10.1002/mdc3.13740. 2023
STATISTICAL SOLUTIONS FOR ANALYTIC CHALLENGES IN REGISTRIES FOR HTA-PURPOSES
Fekete, I; (...); Volmer, T
Meeting Abstract. 2020
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.
Baviera-Munoz, Raquel; (...); Aller, Elena
Article. 10.1002/mds.29910. 2024
STUDY OF TRANSCRIPTIONAL DIFFERENCES BETWEEN THE IDH2 R140 AND R172 MUTATIONS BY MEANS OF MODELING IN THE ORGANISM CAENORHABDITIS ELEGANS
Gonzalez, Romero Elisa; (...); Cervera, Jose Vicente
Meeting Abstract. 2020
Superior Live Birth Rates, Reducing Sperm DNA Fragmentation (SDF), and Lowering Miscarriage Rates by Using Testicular Sperm Versus Ejaculates in Intracytoplasmic Sperm Injection (ICSI) Cycles from Couples with High SDF: A Systematic Review and Meta-Analysis
Cano-Extremera, Marina; (...); Puchalt, Nicolas Garrido
Review. 10.3390/biology14020130. 2025
Synergistic activation of AMPK prevents from polyglutamine-induced toxicity in Caenorhabditis elegans.
Gómez-Escribano AP; (...); Vázquez-Manrique RP
Article. 10.1016/j.phrs.2020.105105. 2020
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet, Beatrice; (...); Kalatzis, Vasiliki
Article. 10.1172/jci.insight.169426. 2023
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.nrl.2022.01.008. 2024
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
Treatment of patients with spinal muscular atrophy 5q: Towards a new protocol.
Gomez-Andres, D., Martinez-Moreno, M., Vazquez-Costa, J. F.
Letter. 10.1016/j.nrl.2020.10.003. 2021
Treatment of patients with spinal muscular atrophy 5q: towards a new protocol.
Gómez-Andrés D, Martínez-Moreno M, Vázquez-Costa JF
Letter. 10.1016/j.nrleng.2020.10.005. 2021
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
Uniparental Disomy of chromosome 16 as a cause of Primary Ciliary Dyskinesia
Carretero-Vilarroig, Lidon; (...); Jaijo, Teresa
Meeting Abstract. 2024
Updating the Genetic Landscape of Inherited Retinal Dystrophies
Bohorquez, Belen Garcia; (...); Millán JM
Article. 10.3389/fcell.2021.645600. 2021
Use of NGS for diagnosis of asymptomatic hyperCKemia in childhood
Marti, P; (...); VILCHEZ, J
Meeting Abstract. 10.1016/j.nmd.2021.07.340. 2021
USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans.
Schwaller F; (...); Lewin GR
Article. 10.1038/s41593-020-00751-y. 2021
Usher Syndrome: Genetics of a Human Ciliopathy
Fuster-García C; (...); García-García G
Review. 10.3390/ijms22136723. 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
Lizandra Cortes, P.; (...); Vazquez-Costa, J. F.
Article. 10.1016/j.nrl.2022.05.004. 2024
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