More personalised care for children 18 December 2024:Adding genetic testing to the evaluation of paediatric patients with neurodevelopmental disorders (NDD) resulted in more personalised care, including changes in medication, referrals to clinical trials or specialists, and surveillance for potential medical issues, according to a new UCLA Health study. Children who present with neurodevelopmental differences, such…
Category: Neurodevelopmental disorders
Human-specific genes linked to brain development and disorders
Link discovered between two human-specific genes and the SYNGAP1 gene, which is associated with intellectual disability and autism spectrum disorders 14th October 2024: A team of researchers led by Prof. Pierre Vanderhaeghen (VIB-KU Leuven), in collaboration with scientists from Columbia University and Ecole Normale Supérieure, has discovered a link between two human-specific genes, SRGAP2B and…
Biogen to seek approval for high-dose version of Spinraza for SMA
Over the past decade, three drugs—Biogen’s Spinraza, Roche’s Evrysdi, and Novartis’ gene therapy Zolgensma—have transformed spinal muscular atrophy (SMA) treatment. However, unmet needs remain. Biogen, the first to receive SMA approval in 2016, is addressing this with a higher dose of Spinraza (nusinersen). In Biogen’s phase 2/3 DEVOTE study, the higher dose significantly improved motor…
Trofinetide for Rett Syndrome – new drug submission in Canada
23 April 2024: Acadia Pharmaceuticals Inc has announced that Health Canada has accepted its New Drug Submission (NDS) for trofinetide for the treatment of Rett syndrome, a rare neurodevelopmental disorder. Health Canada has granted Priority Review for Acadia’s submission. “Rett syndrome is a profoundly debilitating and complex neurodevelopmental disorder that presents differently across patients and…
