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    Recomendaciones para el uso de terapia génica y modificadora de enfermedad en niños, niñas y adolescentes con Atrofia Muscular Espinal
    (Sociedad Chilena de Pediatria, 2025-02-18)
    Daniela Avila-Smirnow
    ;
    Claudia Amarales Osorio
    ;
    María de los Ángeles Beytía Reyes
    ;
    Rocío Cortés Zepeda
    ;
    Ricardo Erazo Torricelli
    La Atrofia Muscular Espinal (AME) es una grave enfermedad neurológica autosómica recesiva (1-2/100,000 personas). Se clasifica en tres tipos según la edad de inicio y los hitos motores alcanzados. Es causada por variantes patogénicas en el gen Survival of Motor Neuron 1 (SMN1), y modificada por el número de copias del gen SMN2. Existen tres fármacos modificadores de la historia natural de la enfermedad, aprobados por entes reguladores: nusinersen, risdiplam y onasemnogene abeparvovec.Objetivo: Establecer recomendaciones para el uso de terapia génica y modificadora de enfermedad para AME.Método: Un panel de 9 neurólogos pediátricos expertos revisó la evidencia disponible y consensuó recomendaciones para el uso de estos fármacos en pacientes con AME.Resultados: Se revisaron 21 estudios. Todos los pacientes mantuvieron el estándar de cuidado respiratorio y nutricional. Las tres terapias se asociaron a un mejor pronóstico motor, ventilatorio y sobrevida comparados con placebo o con la historia natural de la enfermedad en pacientes presintomáticos (2-3 copias de SMN2), con AME I (<6 meses y sin ventilación mecánica permanente (VMP)), AME II y III (sin VMP). No se encontraron estudios de alta calidad que demuestren la eficacia de las terapias combinadas, en etapas avanzadas de la enfermedad ni con 0-1 copia de SMN2.Conclusiones: Se recomienda el uso de los tres fármacos en pacientes presintomáticos, con AME I < 6 meses, AME II y AME III, excepto en aquellos con VMP, etapas avanzadas o 0-1 copias de SMN2. El uso de estos fármacos en pacientes que no cumplan estos criterios debe ser evaluado individualmente por expertos.
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    Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome
    (2023)
    Roxane Labrosse
    ;
    Julia I. Chu
    ;
    Myriam A. Armant
    ;
    John K. Everett
    ;
    Danilo Pellin
    <jats:title>Abstract</jats:title> <jats:p>Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder characterized by combined immunodeficiency, eczema, microthrombocytopenia, autoimmunity, and lymphoid malignancies. Gene therapy (GT) to modify autologous CD34+ cells is an emerging alternative treatment with advantages over standard allogeneic hematopoietic stem cell transplantation for patients who lack well-matched donors, avoiding graft-versus-host-disease. We report the outcomes of a phase 1/2 clinical trial in which 5 patients with severe WAS underwent GT using a self-inactivating lentiviral vector expressing the human WAS complementary DNA under the control of a 1.6-kB fragment of the autologous promoter after busulfan and fludarabine conditioning. All patients were alive and well with sustained multilineage vector gene marking (median follow-up: 7.6 years). Clinical improvement of eczema, infections, and bleeding diathesis was universal. Immune function was consistently improved despite subphysiologic levels of transgenic WAS protein expression. Improvements in platelet count and cytoskeletal function in myeloid cells were most prominent in patients with high vector copy number in the transduced product. Two patients with a history of autoimmunity had flares of autoimmunity after GT, despite similar percentages of WAS protein–expressing cells and gene marking to those without autoimmunity. Patients with flares of autoimmunity demonstrated poor numerical recovery of T cells and regulatory T cells (Tregs), interleukin-10–producing regulatory B cells (Bregs), and transitional B cells. Thus, recovery of the Breg compartment, along with Tregs appears to be protective against development of autoimmunity after GT. These results indicate that clinical and laboratory manifestations of WAS are improved with GT with an acceptable safety profile. This trial is registered at clinicaltrials.gov as #NCT01410825.</jats:p>
      12Scopus© Citations 30
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    Posibilidad de terapia génica en pacientes con enfermedades retinianas hereditarias
    (2022)
    A. Bofill
    ;
    J.I. Oporto
    ;
    J.I. Verdaguer
    ;
    J.P. López
    ;
    O. Acuña
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    Gene and cell therapy on the acquisition and relapse-like binge drinking in a model of alcoholism: translational options
    (2019)
    Yedy Israel
    ;
    Quintanilla, María Elena
    ;
    Paola Ezquer
    ;
    Mario Morales
    ;
    Eduardo Rivera-Meza
      26Scopus© Citations 4