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

Phase 2

Completed

Conditions: Bourneville's disease
Tuberous sclerosis complex (TSC)
10083624

Registration Number: NL-OMON39487

Lead Sponsor: Erasmus MC, Universitair Medisch Centrum Rotterdam

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 60

Inclusion Criteria

Children with a definite diagnosis of TSC between 4 and 17 years.
Estimated IQ <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.

Exclusion Criteria

Hepatic dysfunction.
Surgery less than 6 weeks before entering the study.
Infection at time of inclusion.
Allergy for any of the components of the study medication.
Additional diseases or disorders that may influence the endpoints.
Developmental age estimated below 3.5 years.
Intractable epilepsy with more than 1 seizure per week.

Study & Design

Study Type: Interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>To determine the effect of Everolimus on cognitive development (measured by IQ)<br /><br>in children with TSC.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>To evaluate the effect on symptoms of autism spectrum disorder, other (neuro)<br /><br>psychological test parameters, seizure frequency, EEG-abnormalities and<br /><br>specific symptoms of learning disability. Furthermore, we will observe the<br /><br>tolerability of Everolimus in children with TSC.<br /><br>The MRI will show structural abnormalities in the brains of the participants.<br /><br>We can evaluate the size of these abnormalities before and after Everolimus<br /><br>treatment, and relate these abnormalities to the cognitive abilities of that<br /><br>participant. Moreover, we want to investigate whether improvement of the<br /><br>structural abnormalities in the brain is accompanied by an improvement of the<br /><br>cognitive abilities of that participant.</p><br>