Albert Catalá
A5016203121- Acute Myeloid Leukemia Research
- Acute Lymphoblastic Leukemia research
- DNA Repair Mechanisms
- CAR-T cell therapy research
- CRISPR and Genetic Engineering
- Immunodeficiency and Autoimmune Disorders
- Congenital heart defects research
- Advanced biosensing and bioanalysis techniques
- RNA modifications and cancer
- Cancer Genomics and Diagnostics
- Autoimmune and Inflammatory Disorders Research
- Genomics and Rare Diseases
- Virus-based gene therapy research
- Neutropenia and Cancer Infections
- Parvovirus B19 Infection Studies
- Epigenetics and DNA Methylation
- Childhood Cancer Survivors' Quality of Life
- Blood disorders and treatments
- Pluripotent Stem Cells Research
- Histone Deacetylase Inhibitors Research
- Hematological disorders and diagnostics
- Neuroblastoma Research and Treatments
- Genetics and Neurodevelopmental Disorders
- Immune Cell Function and Interaction
- Pharmaceutical studies and practices
Centre for Biomedical Network Research on Rare Diseases
2016-2025
Instituto de Salud Carlos III
2016-2025
Hospital Sant Joan de Déu Barcelona
2015-2024
Universitat de Barcelona
2014-2024
Instituto de Investigación de Enfermedades Raras
2018-2024
Institut de Recerca Sant Joan de Déu
2019-2023
Centro de Investigación Biomédica en Red
2022-2023
Donostiako Unibertsitate Ospitalea
2023
Red de Investigación en Actividades Preventivas y Promoción de la Salud
2023
Blood Cancer UK
2022
We evaluated the administration of ARI-0001 cells (chimeric antigen receptor T targeting CD19) in adult and pediatric patients with relapsed/refractory CD19+ malignancies. Patients received cyclophosphamide fludarabine followed by at a dose 0.4-5 × 106 cells/kg, initially as single later split into 3 fractions (10%, 30%, 60%) full depending on absence cytokine release syndrome (CRS). 58 were included, which 47 therapy: 38 acute lymphoblastic leukemia (ALL), 8 non-Hodgkin's lymphoma, 1...
Abstract Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloproliferative disorder of early childhood characterized by mutations activating RAS signaling. Established clinical and genetic markers fail to fully recapitulate the biological heterogeneity this disease. Here we report DNA methylome analysis mutation profiling 167 JMML samples. We identify three subgroups with unique molecular characteristics. The high methylation group (HM) somatic PTPN11 poor outcome. low enriched for...
Defective FAS (CD95/Apo-1/TNFRSF6) signaling causes autoimmune lymphoproliferative syndrome (ALPS). Hypergammaglobulinemia is a common feature in ALPS with mutations (ALPS-FAS), but paradoxically, fewer conventional memory cells differentiate from FAS-expressing germinal center (GC) B cells. Resistance to FAS-induced apoptosis does not explain this phenotype. We tested the hypothesis that defective non-apoptotic may contribute impaired cell differentiation ALPS. analyzed secondary lymphoid...
Juvenile myelomonocytic leukemia is a rare myeloproliferative disease in young children. While hematopoietic stem cell transplantation remains the only curative therapeutic option for most patients, children with juvenile increasingly receive novel agents phase I–II clinical trials as pre-transplant therapy or relapse after transplantation. However, response criteria definitions of outcome standardized evaluation treatment effect patients are currently lacking. Here we propose to evaluate...
Abstract Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as most common cause underlying primary MDS in children. Triggered by discovery recurrent synonymous variant, we systematically investigated 911 patients with phenotype pediatric or cellular deficiencies for presence alterations . In total, identified nine individuals five heterozygous mutations: c.351C>G,...
This study lays the groundwork for future lentivirus-mediated gene therapy in patients with Diamond Blackfan anemia (DBA) caused by mutations ribosomal protein S19 (RPS19), showing evidence of a new safe and effective therapy. The data show that, unlike Fanconi (FA), hematopoietic stem cell (HSC) reservoir DBA was not significantly reduced, suggesting that collection these cells should constitute remarkable restriction Subsequently, 2 clinically applicable lentiviral vectors were developed....
The authors evaluated the initial intracranial pressure (ICP) and cerebral perfusion (CPP) as prognostic factors in severe head injury children tried to determine optimal CPP range.The performed a 9-year retrospective review of all patients with traumatic brain injuries (TBIs) who required invasive ICP monitoring were admitted pediatric intensive care unit at their institution between January 1995 December 2003. These had Glasgow Coma Scale scores lower than 8 and/or due worsening...
Refractory cytopenia of childhood is the most common subtype myelodysplastic syndrome in children. In this study, we compared outcome immunosuppressive therapy using horse antithymocyte globulin (n=46) with that rabbit (n=49) 95 patients refractory and hypocellular bone marrow. The response rate at 6 months was 74% for 53% (P=0.04). inferior group resulted lower 4-year transplantation-free (69% versus 46%; P=0.003) failure-free (58% 48%; P=0.04) survival rates those group. However, because...
Low-dose azacitidine is efficient and safe in the therapy of malignant myeloid disorders adults but data children are lacking. We present a retrospective analysis 24 young with myelodysplastic syndrome (MDS) who received at time first diagnosis or relapse after allotransplant (2 were treated both initially for relapse). Diagnoses refractory cytopenia childhood (N = 4), advanced primary MDS 9) secondary 11). The median duration treatment was four cycles. Azacitidine well tolerated, cytopenias...
Purpose Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer susceptibility. FA molecular diagnosis is challenging since caused by point mutations large deletions in 22 genes following three heritability patterns. To optimise patients’ characterisation, we developed simplified but effective methodology based on whole exome sequencing (WES) functional studies. Methods 68 patients were analysed...
Telomeres are nucleoprotein structures present at the terminal region of chromosomes. Mutations in genes coding for proteins involved telomere maintenance causative a number disorders known as telomeropathies. The genetic origin these diseases is heterogeneous and has not been determined significant proportion patients. This article describes characterization cohort Telomere length was by Southern blot quantitative PCR. Nucleotide variants were analyzed either high-resolution melting...
Recent updates of the guidelines on prevention human immunodeficiency virus mother-to-child transmission have shortened neonatal zidovudine prophylactic regimens from 6 to 4 weeks. We present a prospective observational study in large cohort mother-infant pairs and report that 4-week regimen allows an earlier recovery anemia these otherwise healthy infants.
Pandemic influenza A (2009-H1N1) usually results in mild clinical illness, but some individuals it can be life-threatening. There are no reports of this disease among paediatric patients with acute lymphoblastic leukaemia (ALL). We report ten consecutive ALL and pandemic treated a single institution. Median age was 7 years (range: 3-12). All were oseltamivir. deaths. Two under intensive chemotherapy developed pneumonia one required ventilatory support. maintenance treatment had disease. In...
Wilms tumor 1 (WT1) is over-expressed in numerous cancers with respect to normal cells, and has either a suppressor or oncogenic role depending on cellular context. This gene associated alternatively spliced transcripts, which initiate from two different unique first exons within the WT1 alternative (A)WT1 promoter intervals. Within hematological system, expression restricted CD34+/CD38- cells undetectable after differentiation. Detectable of this an excellent marker for minimal residual...
Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by failure, anomalies, high genetic heterogeneity, and predisposition to cancer. Appropriate treatment cancer surveillance ideally depend on the identification mutated gene. A next-generation sequencing (NGS) panel genes could be 1 initial screening test carried out in comprehensive study IBMFSs, allowing molecular detection affected patients. We designed 2 NGS panels IBMFS genes: version...
Difficulties in the collection of hematopoietic stem and progenitor cells (HSPCs) from Fanconi anemia (FA) patients have limited gene therapy this disease. We investigated (ClinicalTrials.gov, NCT02931071) safety efficacy filgrastim plerixafor for mobilization HSPCs by leukapheresis FA patients. Nine eleven enrolled mobilized beyond threshold level 5 CD34+ cells/μL required to initiate apheresis. A median 21.8 was reached at peak mobilization. Significantly, oldest (15 16 years old) were...
We evaluated outcomes of 18 patients with isolated extramedullary disease (iEMD) relapsed/refractory (R/R) B-cell acute lymphoblastic leukemia (B-ALL) treated the CD19-directed CAR T cells ARI-0001 in two centers (adult and pediatric), including CART19-BE-01 trial consecutive compassionate use program. iEMD was detected by PET-CT 78% (14/18), and/or cerebrospinal fluid analysis 28% (5/18). Patients received cyclophosphamide fludarabine followed 1 × 106 cells/kg, initially as a single dose...
RNA sequencing (RNA-seq) is a reliable tool for detecting gene fusions in acute leukemia. Multiple bioinformatics pipelines have been developed to analyze RNA-seq data, but an agreed gold standard has not established. This study aimed compare the applicability of 5 fusion calling (Arriba, deFuse, CICERO, FusionCatcher, and STAR-Fusion), as well define develop integrative pipeline (Fusion InPipe) detect clinically relevant pediatric We analyzed data by each individually Fusion InPipe. Each...