Carregant...
Tipus de document
ArticleVersió
Versió publicadaData de publicació
Llicència de publicació
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/179931
Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
Objective: To investigate the safety and efficacy of N-acetyl-L-leucine (NALL) on symptoms, functioning, and quality of life in pediatric (≥ 6 years) and adult Niemann-Pick disease type C (NPC) patients. Methods: In this multi-national, open-label, rater-blinded Phase II study, patients were assessed during a baseline period, a 6-week treatment period (orally administered NALL 4 g/day in patients ≥ 13 years, weight-tiered doses for patients 6-12 years), and a 6-week post-treatment washout period. The primary Clinical Impression of Change in Severity (CI-CS) endpoint (based on a 7-point Likert scale) was assessed by blinded, centralized raters who compared randomized video pairs of each patient performing a pre-defined primary anchor test (8-Meter Walk Test or 9-Hole Peg Test) during each study periods. Secondary outcomes included cerebellar functional rating scales, clinical global impression, and quality of life assessments. Results: 33 subjects aged 7-64 years with a confirmed diagnosis of NPC were enrolled. 32 patients were included in the primary modified intention-to-treat analysis. NALL met the CI-CS primary endpoint (mean difference 0.86, SD = 2.52, 90% CI 0.25, 1.75, p = 0.029), as well as secondary endpoints. No treatment-related serious adverse events occurred. Conclusions: NALL demonstrated a statistically significant and clinical meaningfully improvement in symptoms, functioning, and quality of life in 6 weeks, the clinical effect of which was lost after the 6-week washout period. NALL was safe and well-tolerated, informing a favorable benefit-risk profile for the treatment of NPC. CLINICALTRIALS. Gov identifier: NCT03759639.
Matèries
Matèries (anglès)
Citació
Citació
BREMOVA‐ERTL, Tatiana, CLAASSEN, Jens, FOLTAN, Tomas, GASCÓN-BAYARRI, Jordi, GISSEN, Paul, HAHN, Andreas, HASSAN, Anhar, HENNIG, Anita, JONES, Simon a., KOLNIKOVA, Miriam, MARTAKIS, Kyriakos, RAETHJEN, Jan, RAMASWAMI, Uma, SHARMA, Reena, SCHNEIDER, Susanne a.. Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C. _Journal of Neurology_. 2021. [consulta: 21 de gener de 2026]. ISSN: 1432-1459. [Disponible a: https://hdl.handle.net/2445/179931]