Pharmacological Treatment of Rett Syndrome With Statins

NCT ID: NCT02563860

Last Updated: 2019-07-12

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE2
• Total Enrollment: 20 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2015-07-31
• Study Completion Date: 2016-07-31

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.

Conditions

Rett Syndrome

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

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.

Group Type: EXPERIMENTAL

Lovastatin

Intervention Type: DRUG

dose escallating

Interventions

Lovastatin

dose escallating

Intervention Type: DRUG

Other Intervention Names

Mevacor

Eligibility Criteria

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.

• Minimum Eligible Age: 3 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: No

Sponsors

Rett Syndrome Research Trust

OTHER

Sponsor Role: collaborator

Montefiore Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Aleksandra Djukic

Professor of Clinical Neurology, Director, Tri State Rett Syndrome Center

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Aleksandra Djukic, MD PhD

Role: PRINCIPAL_INVESTIGATOR

Montefiore Medical Center

Locations

Montefiore Medical center

The Bronx, New York, United States

Countries

United States

Other Identifiers

2014-4253

Identifier Type: -

Identifier Source: org_study_id