Acetyl-dl-leucine in Niemann-Pick type C: A case series
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu časopisecké články, pozorovací studie, práce podpořená grantem
PubMed
26400580
DOI
10.1212/wnl.0000000000002041
PII: WNL.0000000000002041
Knihovny.cz E-zdroje
- MeSH
- dospělí MeSH
- kvalita života psychologie MeSH
- leucin analogy a deriváty terapeutické užití MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- Niemannova-Pickova nemoc typu C diagnóza farmakoterapie psychologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- pozorovací studie MeSH
- práce podpořená grantem MeSH
- Názvy látek
- acetylleucine MeSH Prohlížeč
- leucin MeSH
OBJECTIVE: To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C (NP-C) disease. METHODS: Twelve patients with NP-C disease were treated with AL 3 g/d for 1 week and then with 5 g/d for 3 weeks with a subsequent washout period of 1 month. The Scale for the Assessment and Rating of Ataxia (SARA), the Spinocerebellar Ataxia Functional Index (SCAFI), the modified Disability Rating Scale (mDRS), EuroQol 5Q-5D-5L, and the visual analog scale (VAS) were administered. Measurements took place at baseline, after 1 month of therapy, and after 1 month of washout. RESULTS: The SARA score changed from the baseline (median [±SD, interquartile range]) of 10.8 (11.2, 8-24.6) to 7.0 (10.7, 5.6-19.6) on medication (difference: 3.8 points) and 10.5 (11.5, 7.1-23.9) after washout (difference: 3.5 points) (p = 0.000412; post hoc p = 0.003 between baseline and on medication, and on medication and washout p = 0.005). The SCAFI subscore 9-Hole Peg Test for dominant hand, mDRS score, and VAS score also improved on medication. No side effects except transient dizziness in one patient were reported. CONCLUSIONS: Treatment with AL improved ataxic symptoms in patients with NP-C without relevant side effects, thus showing a reasonable risk-benefit profile. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that AL improves cerebellar symptoms and quality of life in patients with NP-C.
Citace poskytuje Crossref.org
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C
