Conditions: Rett Syndrome
Keywords: Treatment trial Lovastatin
Allocation: NA | Intervention model: SINGLE_GROUP
Enrollment: 20
Healthy volunteers: no

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

Detailed description:
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.

Arms:
arm 1: Treatment with Lovastatin, dose escalating trial according to the following schedule:

10 mg daily for 8 week 20 mg daily for 8 weeks 40 mg daily for 16 weeks.

Interventions: intervention 1: Lovastatin
Intervention descriptions: intervention 1: dose escallating

Protocol document: