Elsevier

Brain and Development

Volume 23, Supplement 1, December 2001, Pages S85-S89
Brain and Development

Original article
Medium-term open label trial of L-carnitine in Rett syndrome

https://doi.org/10.1016/S0387-7604(01)00346-1Get rights and content

Abstract

Treatment strategies in Rett syndrome so far have been essentially symptomatic and supportive. In order to establish the medium-term effects of L-carnitine, an open label trial was performed in a cohort of 21 Rett syndrome females, with a control group of 62 Rett syndrome females of a similar age, for a 6-month period. Compared with the Rett syndrome controls, treatment with L-carnitine led to significant improvements in sleep efficiency (P=0.027), especially in the subjects with a baseline sleep efficiency less than 90%, energy level (P<0.005) and communication skills (P=0.004). There was no significant difference in the subject's level of physical activity, hand function or in the quality of life of the subject's parents. In addition, before and after comparisons of the treatment group showed improvements in expressive speech (P=0.011). Treatment with L-carnitine seems to be of significant benefit in a subgroup of girls with Rett syndrome. In these girls, small but discernible improvements may be of considerable importance to their parents and carers.

Introduction

Treatment of a cohort of Rett syndrome (RS) females with L-carnitine over an 8-week period led to improvement in patient well-being and hand function [1]. In order to establish the medium-term effects of L-carnitine treatment, an open label trial was undertaken in a cohort of 21 females with RS. The study was designed using objective outcome measures, which included the newly designed and validated Rett syndrome: symptom severity index (RS: SSI), the hand apraxia scale, and a sleep diary. The SF-36 Health Survey was used to assess parental quality of life. In addition, objective measures of physical activity were made using TriTrac-R3D ergometers. A comparison group of 62 girls of similar age with RS completed the RS: SSI, the hand apraxia scale, a sleep diary and the SF-36 Health Survey over the 6-month trial period.

Section snippets

Methods

Subjects enrolled in the previous randomised controlled trial of L-carnitine [1] were invited to participate in a 6-month open label trial of L-carnitine. Twenty-one families agreed to participate in this study. For the RS control group, subjects were recruited from the Australian Rett Syndrome Register [2]. The 21 subjects were assessed prior to commencing the trial for the completion of the baseline assessments. For assessment of outcome, the RS: SSI [3], the hand apraxia scale [4], a 7

Results

All subjects who commenced the open label trial of L-carnitine and the 62 control subjects completed the study. The age range of the cases was 7–41 years, with a mean age of 14.4 years and a median age of 10 years. The age range for the control subjects was 4–30 years, with a mean age of 13.3 years and a median age of 13 years. The mean total plasma carnitine concentration at the commencement of the L-carnitine trial for the cases was 35.2 μmol/l, with a range of 16.0–54.0 μmol/l (normal range,

Discussion

Medium-term treatment of a cohort of RS patients with L-carnitine led to significant improvements in sleep efficiency, sleep latency, proportion of total sleep that occurred during the day, energy level, communication skills, expressive language and teeth grinding over a 6-month period. The improvement in sleep efficiency was most marked in the subjects whose baseline sleep efficiency was less than 90%. All subjects in this group had an improvement in sleep efficiency with a mean increase of

Acknowledgements

This study was supported financially by an NH&MRC Postgraduate PhD Scholarship and funds raised by the Rett Syndrome and Country Women's Associations of New South Wales, Australia.

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