Ein Forschungsteam des Universitätsklinikums Tübingen hat einen bedeutenden Fortschritt in der Behandlung der seltenen Kinderdemenz CLN2 (Batten-Syndrom) erzielt. Mithilfe von humanen Netzhaut-Organoiden und Retina-on-Chip-Modellen konnte die Wirksamkeit einer Gentherapie des US-Unternehmens Tern Therapeutics nachgewiesen werden, ohne auf Tierversuche zurückzugreifen. Die Therapie zielt darauf ab, den Verlust des Sehvermögens bei betroffenen Kindern zu verhindern und hat bereits den Weg für eine klinische Studie in Großbritannien geebnet.

Andelyn Biosciences teams up with Tern Therapeutics for late-stage manufacturing of AAV gene therapy aimed at curing CLN2 Batten disease, offering hope for affected children.

Corti et al. leverage patient hiPSC-derived retinal organoids and retina-on-chip systems to replicate key CLN2 retinal pathologies, including lipofuscin accumulation and cone dysfunction. AAV9-mediated TPP1 gene therapy restores enzyme expression and reduces pathological hallmarks, offering promise for treating CLN2-associated blindness.

British Columbia's minister of health says the province has reinstated coverage for an expensive drug used by a Vancouver Island girl with a rare and terminal genetic condition.

In a stunning reversal, the B.C. government has announced it is reinstating funding for Langford girl Charleigh Pollock’s rare disease treatment.

VICTORIA - A family from Langford, B.C., hoping to extend the life of their little girl who has a rare disease has been rejected again for coverage of medication that

Despite a personal plea from family, the province has upheld its decision to stop funding Brineura for nine-year-old Charleigh Pollock.