A study has identified a molecular pathway controlling TFEB activity, revealing new druggable targets for therapies in rare genetic diseases, cancer, and disorders linked to lysosomal dysfunction. Lysosomal stress triggers TFEB activation, which boosts cellular recycling and adapts to stress.
A novel autologous gene therapy for Wiskott-Aldrich syndrome has demonstrated durable clinical benefits in a phase 3 study, with 96% survival at 1 and 5 years. The treatment, etu-cel, has also reduced severe infections and moderate-to-severe bleeding events.
The study demonstrated sustained improvements in disease features in mouse models with effects lasting throughout their lifespan. Genespire's approach has the potential to translate into human health as a single-administration treatment for patients with MMA.
The SMArT platform achieves near-pure selection of correctly edited blood stem cells while reducing dangerous genomic alterations. The innovative strategy enables enrichment of cells with targeted integration to 100% purity.
The program achieved a definitive genetic diagnosis in nearly half of enrolled children, identifying pathogenic variants across 330 genes. Families received timely diagnoses, allowing accurate genetic counseling and informed reproductive choices, while guiding clinical management and opening access to targeted therapies.
Waskyra, an ex vivo gene therapy, offers new hope for patients with Wiskott-Aldrich syndrome by reducing severe bleeding events and serious infections. The FDA approval confirms Fondazione Telethon's excellence in rare genetic disease research.
Fondazione Telethon's gene therapy Waskyra, treating Wiskott-Aldrich Syndrome, has received CHMP positive opinion and marketing authorisation in the European Union. The therapy offers new hope for patients affected by this rare genetic disorder.
A study published in the Journal of Hepatology reveals that only 15-20% of neonatal liver cells are responsible for generating over 90% of the adult liver mass. This finding has major implications for pediatric gene therapy, allowing scientists to achieve more effective and durable correction of inherited liver diseases.
Researchers have developed a groundbreaking method to observe lysosomes in live suspended cells—quantitatively, in 3D, and without the use of chemical labels. The technology uses holographic tomography in flow cytometry configuration (HTFC) to identify morphological and spatial lysosomal changes in models of lysosomal storage diseases.
A new cytokine delivery platform reprograms the tumor microenvironment to enhance CAR-T cell function in preclinical brain cancer models. The strategy leads to a broader immune response that inhibits tumor growth and extends host survival, even in mice with only a fraction of cells expressing the CAR-targeted antigen.
Scientists at San Raffaele Telethon Institute for Gene Therapy discovered that CRISPR-Cas9 gene editing can cause inflammation and senescence-like responses in blood stem cells. This reduces the cells' ability to regenerate blood cells after transplantation, limiting the long-term success of gene therapy.
A team of scientists from SR-Tiget has identified a unique window shortly after birth to deliver lentiviral vectors directly into the bloodstream, enabling gene transfer and long-term engraftment. This approach shows promise for treating some genetic blood disorders without stem cell transplantation or chemotherapy.
A recent study published in the New England Journal of Medicine found that gene therapy can significantly reduce the risk of severe motor and cognitive impairment in children with metachromatic leukodystrophy (MLD). The therapy, administered early, preserves motor function and cognitive abilities in most patients.