RTT requires a multidisciplinary approach. Genetic testing results are essential for enrolment in clinical trials. Therapeutic strategies are as follows:
• Seizures need to be treated with antiseizure treatment. Antiseizure treatment efficacy is age-dependent and valproate is recommended under 5 years of age, while carbamazepine is the drug of choice for patients over 15 years. Lamotrigine may be also preferred.
• Molecular targets: A known synthetic anolog of glycine-proline glutamate, Trofenetide and ketamine are promising candidates.
• Gene theraphy: Adenoassociated virus (AAV) mediated gene theraphy was tolerable in first patients and is a promising treatment method including other gene therapies.
• Future theraphies: Nanoparticle-based delivery systems with lesser immunogenicity and higher genetic payload capacity than classical viral vectors are promising future theraphies.
• Treatment of endocrine disorders: dietary theraphies against weight loss and malnutrition, gonadal function theraphies against precocious puberty and menstrual irregularities, thyroid hormone replacement for hypothyroidism are main treatment strategies.
• Orthopedic approach: Calcium, protein and phosphate containing dietary regulation is necessary.
MECP2