Acetyl-dl-leucine in Niemann-Pick type C: A case series.

Abstract

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.

• Authors: Tatiana Bremova, Věra Malinová, Yasmina Amraoui, Eugen Mengel, Jörg Reinke, Miriam Kolníková, Michael Strupp
• Journal: Neurology (Neurology) Vol. 85 Issue 16 Pg. 1368-75 (Oct 20 2015) ISSN: 1526-632X [Electronic] United States
• PMID: 26400580 (Publication Type: Journal Article, Observational Study, Research Support, Non-U.S. Gov't)
• Copyright: © 2015 American Academy of Neurology.

Chemical References

• Leucine
• acetylleucine

Topics

• Adolescent
• Adult
• Female
• Humans
• Leucine (analogs & derivatives, therapeutic use)
• Male
• Niemann-Pick Disease, Type C (diagnosis, drug therapy, psychology)
• Quality of Life (psychology)
• Young Adult