FONDAZIONE TELETHON ETS

Genespire Presents Promising Dosing Data for First-in-Human Gene Therapy in Methylmalonic Acidemia

10 days ago

• Genespire's preclinical research demonstrates that immune-shielded lentiviral vectors (ISLVs) effectively treat methylmalonic acidemia in mouse models, with codon-optimized versions showing higher efficacy at lower doses. • The study revealed dose-dependent improvements across three dosing levels, with evidence that even the lowest dose provided benefits due to selective advantage of treated cells in the liver. • Results from humanized mouse models indicate that CD47-enriched vectors achieve comparable efficacy at substantially lower doses, providing critical insights for upcoming Phase I clinical trials of GENE202 planned for 2026.

NIH Researchers Develop Eye Drops That Could Slow Progression of Retinitis Pigmentosa

2 months ago

• Researchers at NIH have developed eye drops containing small peptides derived from pigment epithelium-derived factor (PEDF) that successfully slowed vision loss in animal models of retinitis pigmentosa. • The peptide formulations, particularly H105A, preserved up to 75% of photoreceptors in treated mice and maintained functional vision, while reaching the retina within 60 minutes of application without toxicity. • While not a cure, these PEDF-based eye drops show promise for treating various degenerative retinal diseases, including retinitis pigmentosa and dry age-related macular degeneration, with researchers now planning human clinical trials.

Can-Fite Advances Piclidenoson to Phase II Trial for Rare Lowe Syndrome with No Current Treatments

2 months ago

• Can-Fite BioPharma has completed the design of a Phase II clinical trial for Piclidenoson in Lowe Syndrome, a rare genetic disease affecting approximately 1 in 500,000 people with no approved treatments. • The open-label study will enroll five patients who will receive 3mg of Piclidenoson twice daily for 12 months, with the primary endpoint measuring improvements in renal uptake. • The development follows successful preclinical research by Dr. Antonella De Matteis, who found Piclidenoson significantly decreased urinary protein loss in Lowe Syndrome models after testing thousands of compounds.

Telethon Foundation Seeks EMA Approval for Etuvetidigene Autotemcel in Wiskott-Aldrich Syndrome

4 months ago

• Telethon Foundation has submitted a marketing authorization application to the EMA for etuvetidigene autotemcel, a gene therapy for Wiskott-Aldrich syndrome. • Etuvetidigene autotemcel is a one-time treatment for patients lacking a matched family donor for hematopoietic stem cell transplantation. • The therapy has been administered to 30 patients, with availability in Italy since August 2023 for patients over six months without a matched related donor. • Telethon is also preparing a submission to the FDA to make the therapy available in the US, marking their second venture into taking over gene therapy development.