PTC Therapeutics

FDA grants accelerated approval to PTC Therapeutics' gene therapy eladocagene exuparvovec-tneq (Kebilidi) for AADC deficiency, marking the first direct brain-administered gene therapy in the US. The therapy showed significant improvements in motor milestones and health metrics in clinical trials.

PTC Therapeutics' Upstaza (eladocagene exuparvovec) is the first FDA-approved AAV2-based gene therapy for AADC deficiency, administered directly to the brain. The approval covers all disease severities and is based on the PTC-AADC-GT-002 trial, with efficacy seen in motor milestone achievement. Upstaza has shown persistent clinical benefits up to 10 years post-treatment, with common adverse events including dyskinesia and pyrexia. The therapy is not eligible for patients under 16 months or over 65 years. PTC is preparing for the US launch, having already trained surgeons.

ClearPoint Neuro receives FDA De Novo marketing authorization for its SmartFlow Neuro Cannula, the first device approved for direct brain gene therapy delivery, specifically for AADC deficiency treatment with PTC Therapeutics' KEBILIDI™, marking the first commercially available neuro gene therapy in the U.S.

PTC Therapeutics announces FDA approval of KEBILIDI™, the first gene therapy directly administered to the brain for AADC deficiency, applicable to children and adults. The therapy involves a stereotactic neurosurgical procedure, with clinical trials showing dopamine synthesis restoration and motor milestone acquisition.

HSG Conference's final day focused on HD research basics, treatment approaches, and community involvement, highlighting advancements in huntingtin-lowering drugs and biomarkers like NfL, and emphasizing the importance of participation in observational studies and community support.

FDA approves PTC Therapeutics' Kebilidi gene therapy for AADC deficiency, the first U.S. brain-administered gene therapy. Kebilidi, indicated for children and adults, corrects dopamine synthesis via stereotactic neurosurgery. Accelerated approval based on clinical trial efficacy, with long-term follow-up pending.

Day 2 of the 2024 Huntington Study Group Conference featured talks on palliative care, clinical trial challenges, and updates from various drug development companies, emphasizing the importance of early intervention and the use of biomarkers in HD treatment.

New Huntington's disease therapies are nearing R&D finish lines, aiming to be the first disease-modifying treatments. Despite high-profile failures, companies like Wave, Prilenia, and uniQure are progressing towards regulatory approval. The field has gained momentum after decades of trial and error, with several mid-stage clinical trials underway. The ideal therapy would selectively lower mutant huntingtin and be widely distributed in the brain, though none currently exist.

FDA places clinical hold on Rapport Therapeutics' phase 2a trial for RAP-219 in diabetic peripheral neuropathic pain; Alnylam Pharmaceuticals to assess mivelsiran in cAPPricorn-1 for cerebral amyloid angiopathy; FDA accepts PTC Therapeutics' resubmitted NDA for ataluren in nonsense mutation Duchenne muscular dystrophy.