Efficacy of RAD001/everolimus in Autism and NeuroPsychological deficits in children with tuberous sclerosis complex (RAPIT-trial)

Conditions: Tuberous Sclerosis Complex
Therapeutic area: Body processes [G] - Genetic Phenomena [G05]

Registration Number: EUCTR2010-019519-39-NL

Lead Sponsor: Erasmus MC - Department of Neurology

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Authorised-recruitment may be ongoing or finished

Sex: All

Target Recruitment: Not specified

Inclusion Criteria

• Children with a definite diagnosis of TSC between 3 and 18 years.
• With an IQ estimated <80 and/or special schooling and/or autism spectrum disorder and/or learning disability
requiring remedial teaching.
• Written informed consent by parents/care-takers, and the patient if he or she is 12 years or older and cognitively
able to consent.
• In girls after menarche, appropriate contraception must be used or abstinence practiced.
Are the trial subjects under 18? yes
Number of subjects for this age range: 60
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

• Renal or liver dysfunction
• Surgery <6wk before entering the study
• Current infection at time of inclusion
• Additional diseases or disorders that may influence the endpoints
• Allergy for any of the components of the study medication

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: The primary objective is to determine the effect of Everolimus on the cognition of children with TSC, measured by<br>IQ.;Secondary Objective: We will also evaluate the effect on symptoms of autism spectrum disorder, other (neuro) psychological test parameters, seizure frequency, EEG-abnormalities and specific symptoms of learning disability. Furthermore, we will observe the tolerability of Everolimus in children with TSC.;Primary end point(s): Cognitive functioning: Mullen scales (IQ);Timepoint(s) of evaluation of this end point: IQ measurements will be obtained at inclusion and at the last study visit.

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s): We will also evaluate the effect on symptoms of autism spectrum disorder, other (neuro) psychological test parameters, seizure frequency, EEG-abnormalities and specific symptoms of learning disability. Furthermore, we will observe the tolerability of Everolimus in children with TSC.;Timepoint(s) of evaluation of this end point: All tests will be executed at inclusion and at the last study visit.