Clinical Trial: Pharmacological Treatment of Rett Syndrome With Statins

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Pharmacological Treatment of Rett Syndrome With 3-Hydroxy-3 Methylglutaryl-coenzyme A Reductase Inhibitor-Lovastatin (Mevacor)

Brief Summary: This is a phase 2 , open label, dose escalating study of Lovastatin in Rett syndrome.

Detailed Summary:

Excess neuronal cholesterol plays a role in the pathophysiology of Rett syndrome(RTT) and the investigators hypothesise that inhibition of cholesterol synthesis in the CNS will reduce neuronal cholesterol and lead to improvement in Rett syndrome related symptoms.

Goal: To determine the optimal dosing regiment of Lovastatin for patients with RTT and to identify the most appropriate primary outcome measure for the subsequent Phase 3 study.

Phase 2, dose escalation study.

Primary outcome: Gait speed Secondary outcomes: respiratory function, cognition, EEG (encephalopathy), Rett syndrome severity scale, neurodevelopmental assessment (QOL)

20 ambulatory female patients with genetically confirmed.


Sponsor: Montefiore Medical Center

Current Primary Outcome: Gait velocity [ Time Frame: 40 weeks ]

Measure: gait velocity. Method: computerized walkway (GAIT rite)


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • visual attention and memory [ Time Frame: 40 weeks ]
    Measure:Novelty scores. Test will be performed using eyetracking technology (Tobii TX 300).
  • Respiratory function [ Time Frame: 40 weeks ]
    3 hour monitoring will be performed in polysomnography lab . Measures: breath hold index and time.
  • Encephalopathy/EEG [ Time Frame: 40 weeks ]
    routine EEG will be performed
  • Quality of Life [ Time Frame: 40 weeks ]
    questionnaire
  • visual pursuit [ Time Frame: 40 weeks ]
    Measure:gain of pursuit. Test will be performed using eyetracking technology (Tobii TX 300)


Original Secondary Outcome: Same as current

Information By: Montefiore Medical Center

Dates:
Date Received: July 20, 2015
Date Started: July 2015
Date Completion:
Last Updated: October 1, 2016
Last Verified: October 2016