Rapalogues for Autism Phenotype in TSC: A Feasibility Study

• Status: Completed
• Trial end date: 2016-08-01
• Target enrollment: 0
• Participant gender: All

Summary

The purpose of this study is to assess the feasibility and safety of administering rapalogues, sirolimus or everolimus, in participants with Tuberous Sclerosis Complex (TSC) and self-injury and to measure cognitive and behavioral changes, including reduction in autistic symptoms, self-injurious and aggressive behaviors, as well as improvements in cognition across multiple domains of cognitive function.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
• Treatments: Everolimus; Sirolimus

Criteria

Inclusion Criteria:

1. Diagnosed with Tuberous Sclerosis Complex as defined by the revised NIH consensus criteria

2. Possible autism or autism spectrum disorder and/or possible intellectual disability and/or global developmental delay

3. Currently displaying disruptive behaviors, such as self-injury and aggression

4. Seizures or epilepsy with at least one seizure within six months prior to enrollment

5. 2-30 years of age

6. English-speaking caregiver if participant is non-verbal.

7. If individuals are currently being treated with everolimus, they must have been taking it for less than or equal to 6 months.

Exclusion Criteria:

1. Participants who require live vaccines that are contraindicated with sirolimus will be excluded - bacille Calmette Guerin(BCG), measles-mumps-rubella vaccine(MMR), poliovirus, rotavirus, smallpox, typhoid, varicella, or yellow fever.

2. Participants who have a history of multiple or severe infections, or reside in a household with anyone who has a chronic, contagious condition will be excluded. Multiple infections will be defined as eight or more lifetime episodes of otitis media or two or more lifetime episodes of bacterial pneumonia. Severe infections will be defined as infections requiring more than one hospital admission for treatment.

3. Participants with any of the following laboratory abnormalities will be excluded:

hematocrit < 27%, absolute neutrophil count(ANC) < 1,500, platelet count < 100,000, serum glutamate oxaloacetate transaminase(SGOT) or serum glutamate pyruvate transaminase (SGPT) > two times normal for age, bilirubin > two times normal for age, alkaline phosphatase > two times normal for age, epidermal growth factor receptor (eGFR) < 30, or evidence of renal failure, hypercholesterolemia.

4. Participants who have medical contraindications to undergoing an MRI will be excluded.

5. Participants with devices implanted in the brain will be excluded.

6. Pregnant participants will be excluded. All young ladies of child bearing potential will have a blood test for pregnancy prior to the start of the study and every study visit for the duration of the study.

7. Participants who have a history of herpes simplex virus, cytomegalovirus, and/or HIV infection will be excluded