Rett Syndrome

Phase 2 Clinical Trial for the Treatment of Rett Syndrome

Brief Description

Phase 2 is a double-blinded, placebo-controlled cross-over study designed to test the efficacy of IGF-1 for treatment of Rett syndrome. The Nelson Lab uses both EEG and a cognitive developmental assessment to evaluate changes in cortical function across treatment. For the EEG, we do this by evaluating two well characterized systems in the brain (the auditory system and the visual system). We use traditional ERP paradigms as well as steady-state presentation of auditory and visual stimuli and power spectra analysis to assess cortical function of V1 and auditory cortex. In addition, the Nelson Lab has adapted the Mullen Scales of Early Learning for use with children with Rett syndrome.

Eligibility for Study Participation

  • Children with Rett syndrome between 2-10 years old.
  • Participants must have a clinical diagnosis of “Classic” or “Typical” Rett syndrome
  • Must have a documented genetic MECP2 mutation
  • They must demonstrate a specific behavioral profile (based on standardized questionnaires)
  •  Reside within North America (USA and Canada) and whose primary language (language most commonly spoken at home) is English.
  •  Subjects must also be in a “stable” stage of the syndrome; i.e. no longer experiencing symptoms or signs of regression (loss of skill).

Participant Details

Families must attend visits at BCH every 10 weeks over the course of one year. Participants will participate in an EEG, eye tracking paradigm, and a cognitive developmental assessment.

Research Contact