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

University of Western Australia, Perth City, Western Australia, Australia
Brain and Development (Impact Factor: 1.54). 12/2001; 23 Suppl 1:S85-9. DOI: 10.1016/S0387-7604(01)00346-1
Source: PubMed

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.

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    • "There is a significant increase in theta frequency between the treated but not the untreated patients (Wilcoxon test). several pathologies associated with RTT, often the treatments have been oriented to control specific symptoms and clinical trials have been carried out during the years to assess the effects of several drugs for treating sleep efficiency, respiratory dysfunctions, or seizures [33] [34] [35]. However, the evidence is that benefits from tested therapies are limited. "
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    ABSTRACT: The association of Rett syndrome with pathogenic mutations of the methyl-CpG binding protein 2 (MECP2) gene was first made in 1999. Since that time, it has been found that the clinical phenotype can, at least in part, be explained in terms of the type and location of the MECP2 mutation and epigenetic factors such as skewing of X-chromosome inactivation. In addition, MECP2 mutations may be associated with non-Rett syndrome clinical phenotypes, including nonsyndromic and syndromic X-linked mental retardation and Angelman-like phenotypes. Intense research efforts are currently focused on understanding the pathogenesis of Rett syndrome, using sophisticated techniques such as microarray analysis, and the development of mouse models, with an ultimate aim being the development of targeted therapies that could ameliorate or even prevent the devastating consequences of this enigmatic neurodevelopmental disorder.
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