Pharmacological Treatment of Rett Syndrome With Statins

Montefiore Medical Center20 enrolled

Overview

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

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

TREATMENT

Masking

NONE

Enrollment

Conditions

Rett Syndrome

Interventions

LovastatinDRUG

dose escallating

Eligibility

Sex: FEMALEMin age: 3 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Females patients, * Genetically confirmed RTT, * Ambulatory. Exclusion Criteria: * Presence of co morbid non-Rett related disease, * History of adverse reaction/hypersensitivity to statins, * Levels of aspartate-amino trans-ferase (AST), alanine-amino transferase (ALT) or creatine kinase (CK) triple the normal values, * Active liver disease, * Concomitant use of strong CYP3A4 inhibitors, * Condition predis-posing to renal failure secondary to rhabdomyolysis (scoliosis surgery within 6 months), * Oral contraceptives use.

Locations (1)

Montefiore Medical center

The Bronx, New York, United States

Outcomes

Primary Outcomes

Gait Velocity as Measured by GAITRite System

To perform quantitative gait assessment using a computerized walkway with embedded pressure sendors (GAIT rite)

Time frame: During final week of treatment, week 32

Secondary Outcomes

Visual Memory Novelty Score as Assessed by TobiiTX 300 Eyetracking System

Novelty score is considered a composite measure of visual memory.Test is a standardized neuropsychological test( "Rose test") adapted for eye tracking system. The present study made use of a well-established battery of "visual paired comparison" problems .There were nine problems: five using achromatic photos of faces and four using multicolored abstract patterns paired stimuli , separated by 23°. For each problem, two identical stimuli are briefly presented side by side for familiarization, then the familiar and a new one are paired on test Recognition(memory) is indexed by a novelty score (percentage of looking to the novel target on test). Higher novelty scores were related to better recognition (index of better memory) Scores range from 0.0-1.0 (0-100%) and indicate 1) more overall looking at novel target and (2) more fixations to novel targets. Score of .5 (50%) indicates looking "by change" only with no recognition.

Time frame: final week of treatment, Week 32

Data from ClinicalTrials.gov

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