Intractable & Rare Diseases Research, Journal Year: 2024, Volume and Issue: unknown
Published: Jan. 1, 2024
Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, neurodegenerative associated with wide variety of progressive neurological manifestations. Miglustat has demonstrated efficacy to delay deterioration in patients NPC. We conducted multicenter, open-label, single-arm, phase IV, post-approval commitment study evaluate the and safety miglustat among Chinese Eligible were aged ≥ 4 years an established diagnosis NPC two C1 or C2 pathogenic markers one marker positive biomarker (oxysterol, lysosphingolipids, bile acids) high clinical suspicion Patients received oral ranging from 100 mg twice daily 200 three times daily. The primary outcome was change horizontal saccadic eye movement parameters baseline week 52. Seventeen enrolled (median age: 14.0 years). From 52, mean peak acceleration velocity increased by 19.2% 12.5%, respectively, while duration linear regression decreased 6.5% 15.6%, respectively. By ambulation, manipulation, language, swallowing, ocular movements had improved stabilized versus baseline. All experienced treatment-emergent adverse events (TEAEs). Treatment-related TEAEs reported 12 most common being diarrhea (
Language: Английский