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Pharmacological Treatment of Rett Syndrome With Statins (Statins)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02563860
Recruitment Status : Completed
First Posted : September 30, 2015
Results First Posted : May 7, 2019
Last Update Posted : July 12, 2019
Rett Syndrome Research Trust
Information provided by (Responsible Party):
Aleksandra Djukic, Montefiore Medical Center

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

Condition or disease Intervention/treatment Phase
Rett Syndrome Drug: Lovastatin Phase 2

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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 20 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Pharmacological Treatment of Rett Syndrome With 3-Hydroxy-3 Methylglutaryl-coenzyme A Reductase Inhibitor-Lovastatin (Mevacor)
Study Start Date : July 2015
Actual Primary Completion Date : July 2016
Actual Study Completion Date : July 2016

Resource links provided by the National Library of Medicine

Drug Information available for: Lovastatin

Arm Intervention/treatment
Experimental: Open label

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.

Drug: Lovastatin
dose escallating
Other Name: Mevacor

Primary Outcome Measures :
  1. Gait Velocity as Measured by GAITRite System [ Time Frame: During final week of treatment, week 32 ]
    To perform quantitative gait assessment using a computerized walkway with embedded pressure sendors (GAIT rite)

Secondary Outcome Measures :
  1. Visual Memory Novelty Score as Assessed by TobiiTX 300 Eyetracking System [ Time Frame: final week of treatment, Week 32 ]

    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.

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02563860

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United States, New York
Montefiore Medical center
Bronx, New York, United States, 10467
Sponsors and Collaborators
Montefiore Medical Center
Rett Syndrome Research Trust
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Principal Investigator: Aleksandra Djukic, MD PhD Montefiore Medical Center
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Responsible Party: Aleksandra Djukic, Professor of Clinical Neurology, Director, Tri State Rett Syndrome Center, Montefiore Medical Center Identifier: NCT02563860    
Other Study ID Numbers: 2014-4253
First Posted: September 30, 2015    Key Record Dates
Results First Posted: May 7, 2019
Last Update Posted: July 12, 2019
Last Verified: July 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Aleksandra Djukic, Montefiore Medical Center:
Treatment trial
Additional relevant MeSH terms:
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Rett Syndrome
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
L 647318
Anticholesteremic Agents
Hypolipidemic Agents
Molecular Mechanisms of Pharmacological Action
Lipid Regulating Agents
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Enzyme Inhibitors