1,721,084 research outputs found
Gene therapy goes the distance in Wiskott-Aldrich syndrome
No full textLong-term follow-up data reinforce the curative potential of hematopoietic stem-cell gene therapy for this rare primary immunodeficiency disorder
Clinical Translation of TALENS: Treating SCID-X1 by Gene Editing in iPSCs
No full textMutations causing X-linked severe combined immunodeficiency (SCID-X1) reduce immune cell populations and function and may be amenable to targeted gene correction strategies. Now in Cell Stem Cell, Menon et al. (2015) correct SCID-X1-related blood differentiation defects by TALEN-mediated genome editing in patient-derived iPSCs, suggesting a possible strategy for autologous cell therapy of SCID-X1
Hematopoietic stem cell gene therapy to halt neurodegeneration
Full text linkMicroglia play fundamental roles in multiple pathological primary and secondary processes affecting the central nervous system that ultimately result in neurodegeneration and for this reason they are considered as a key therapeutic target in several neurodegenerative diseases. Microglia-targeted therapies are directed at either restoring or modulating microglia function, to redirect their functional features toward neuroprotection. Among these strategies, hematopoietic stem cell gene therapy have proven to be endowed with a unique potential for replacing diseased microglia with engineered, transplant progeny cells that can integrate and exert relevant beneficial effects in the central nervous system of patients affected by inherited and acquired neurodegenerative conditions
New Indications for Hematopoietic Stem Cell Gene Therapy in Lysosomal Storage Disorders
Full text linkLysosomal storage disorders (LSDs) are a heterogenous group of disorders due to genetically determined deficits of lysosomal enzymes. The specific molecular mechanism and disease phenotype depends on the type of storage material. Several disorders affect the brain resulting in severe clinical manifestations that substantially impact the expectancy and quality of life. Current treatment modalities for LSDs include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) from allogeneic healthy donors, but are available for a limited number of disorders and lack efficacy on several clinical manifestations. Hematopoietic stem cell gene therapy (HSC GT) based on integrating lentiviral vectors resulted in robust clinical benefit when administered to patients affected by Metachromatic Leukodystrophy, for whom it is now available as a registered medicinal product. More recently, HSC GT has also shown promising results in Hurler syndrome patients. Here, we discuss possible novel HSC GT indications that are currently under development. If these novel drugs will prove effective, they might represent a new standard of care for these disorders, but several challenges will need to be addresses, including defining and possibly expanding the patient population for whom HSC GT could be efficacious
Psychological Well-Being, Cognitive Functioning, and Quality of Life in 205 Adolescent and Young Adult Childhood Cancer Survivors Compared to Healthy Peers
Full text linkThe majority of the studies underlined how adolescent and young adult (AYA) Cancer Survivors had no significant differences in their well-being and quality of life compared with a control group of healthy counterparts, although French et al. (2013) found less years of education among cancer survivors. The present study aimed at comparing AYA cancer survivors and a control group of peers who had no history of serious illness, in terms of well-being, cognitive functioning, and perceptions of life. Participants in this study were 205 AYA cancer survivors, 126 males, off therapy from a mean of 10.87 years (SD = 4.91), with a mean age of 18.96 (SD = 3.08), recruited during follow-up visits and healthy counterparts (n = 205), matched for age and gender. They all completed self-report questionnaires: Ladder of Life, BSI-18 and Cognitive problems. Paired t test evidenced significant differences between survivors (Mean = 6.19; SD = 2.07) and controls (Mean = 6.88; SD = 2.02) in perceptions of quality of life regarding 5 years before the current time [t(204) = −3.39; p = 0.001], with a lower level for childhood cancer survivors. Specifically, Hierarchical regression (R2 = 0.05, p = 0.04) identified a shorter time since the completion of treatment (β = 0.18, p = 0.03) and a trend of stem cell transplantation experience (β = −0.11, p = 0.06) as factors associated with negative perception of precedent quality of life. The AYA cancer survivors reported lower cognitive difficulties (Mean = 1.46) than controls (Mean = 1.56) [t(204) = −3.41; p = 0.001]: in memory (Meanclinical = 1.32 vs Meancontrol = 1.50) [t(204) = −4.52; p = 0.001], in concentration (Meanclinical = 1.36 vs Meancontrol = 1.54) [t(204) = −4.66; p = 0.001] and in mental organization skills (Meanclinical = 1.47 vs Meancontrol = 1.56) [t(204) = −2.56; p = 0.01], even if they had a lower educational attainment [X2(9) = 131.28; p = 0.001]. They showed similar satisfaction with their psychological well-being and their lives as healthy counterparts, except for past life perceptions associated with the cancer period. Important recommendations for future research and clinical suggestions could be given
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