Pharmacological Treatment of Rett Syndrome With Statins

Montefiore Medicine Academic Health System

Status and phase: Completed; Phase 2

Conditions: Rett Syndrome

Treatments: Drug: Lovastatin

Study type: Interventional

Funder types: Other

Identifiers

NCT02563860

2014-4253

Details and patient eligibility

About

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

Full 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.

Enrollment: 20 patients

Sex: Female

Ages: 3+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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20 participants in 1 patient group

Open label

Experimental group

Description:

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.

Treatment:

Drug: Lovastatin