Telethon Foundation

Recent papers from Telethon Foundation

1. Etuvetidigene Autotemcel for the Treatment of Wiskott–Aldrich SyndromeNew England Journal of Medicine · 2026
2. Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challengesOrphanet Journal of Rare Diseases · 2026
3. Lentiviral hematopoietic stem and progenitor cell gene therapy for Wiskott-Aldrich Syndrome: Early access experience in Italian patients based on 648/1996 lawBlood · 2025
4. Lentiviral hematopoietic stem and progenitor cell gene therapy with Etuvetidigene autotemcel for the treatment of Wiskott-Aldrich SyndromeBlood · 2025
5. A roadmap for personalized medicine: the findings of the IC2PerMed projectFrontiers in Medicine · 2025
6. Long-Term Effects of Atidarsagene Autotemcel for Metachromatic LeukodystrophyNew England Journal of Medicine · 2025
7. Cortico-striatal circuit mechanisms drive the effects of D1 dopamine agonists on memory capacity in mice through cAMP/PKA signallingNature Communications · 2025
8. Advancing personalized medicine: key priorities for clinical studies and funding systems based on a Europe–China collaborative Delphi surveyEuropean Journal of Public Health · 2025
9. Tumor-associated macrophages enhance tumor innervation and spinal cord repair2024
10. Unlocking the full potential of rare disease drug development: exploring the not-for-profit sector’s contributions to drug development and accessFrontiers in Pharmacology · 2024
11. A GLB1 transgene with enhanced therapeutic potential for the preclinical development of ex-vivo gene therapy to treat mucopolysaccharidosis type IVBMolecular Therapy — Methods & Clinical Development · 2024
12. New clinical insight in amyotrophic lateral sclerosis and innovative clinical development from the non-profit repurposing trial of the old drug guanabenzFrontiers in Medicine · 2024
13. The positive impact on translational research of Fondazione italiana di ricerca per la Sclerosi Laterale Amiotrofica (AriSLA), a non-profit foundation focused on amyotrophic lateral sclerosis. Convergence of ex-ante evaluation and ex-post outcomes when goals are set upfrontFrontiers in Research Metrics and Analytics · 2023
14. How to START? Four pillars to optimally begin your orphan drug developmentOrphanet Journal of Rare Diseases · 2023
15. Intensive exercise ameliorates motor and cognitive symptoms in experimental Parkinson’s disease restoring striatal synaptic plasticityScience Advances · 2023
16. The IRDiRC Chrysalis Task Force: making rare disease research attractive to companiesTherapeutic Advances in Rare Disease · 2023
17. Thalamo-hippocampal pathway regulates incidental memory capacity in miceNature Communications · 2022
18. Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagementPrion · 2022
19. The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseasesView · 2022
20. The EHA Research Roadmap: Hematopoietic Stem Cell Gene TherapyHemaSphere · 2022