[P3-196] Can Ghrelin Improve Dystonia, Tremor and Autonomic Nerve Dysfunction in Patients with Rett Syndrome?
[Introduction] Rett syndrome (RTT) is a neurodevelopmental disorder characterized by normal early development followed by the loss of psychomotor skills and the onset of stereotyped hand movement. Extrapyramidal involvement and movement disorders are important; they occur in 59%–63.3% of individuals with RTT. Ghrelin, a 28-amino-acid peptide, exerts multiple physiological functions including the stimulation of somatic growth, increase in appetite, and the regulation of autonomic functions. We administered ghrelin intravenously in four RTT patients, all of whom had confirmed MECP2 mutations. [Methodology] Four patients (ages 32, 22, 21, 12) were enrolled. Ghrelin (3 µg /kg/dose) was administered intravenously 1/day for 3 days, and then maintained every 3 weeks in two patients. To evaluate the patients' outcomes, we used the RTT clinical scoring, Burke-Fahn-Marsden Dystonia Rating Scale, Visual Analog Scale (VAS), and a sleep diary, and we measured serum GH, IGF-1, saliva cortisol, melatonin, EEG, and Holter ECG, before and after the ghrelin regimen. [Results] The patients completed the treatment regimen without any serious adverse reaction. The serum levels of GH and ghrelin increased after the ghrelin administration. The VAS of constipation was improved in all patients. Dystonia, tremor and autonomic dysfunction, and sleep disturbances were improved in two patients. The positive effects of grehlin treatment continued for > 9 months in two patients. [Conclusion] The patients completed this ghrelin regimen safely. Ghrelin treatment may be a new therapeutic approach for the treatment of extrapyramidal symptoms and autonomic dysfunction in patients with RTT.