Phase 2
N=3
Rapalogues for Autism Phenotype in TSC: A Feasibility Study
Tuberous Sclerosis Complex · Self-injury · Autism
Bottom Line
View on ClinicalTrials.gov: NCT01929642 ↗Enrolled (actual)
3
Serious AEs
0.0%
Results posted
Mar 2021
Primary outcome: Primary: Number of Participants With Compliance to the Treatment Protocol. — 100; 58; 58 percentage of completed visits/measures
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 2
- Interventions
- Sirolimus (Drug); Everolimus (Drug)
- Age
- Pediatric, Adult · 2+ yrs
- Sex
- All
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
- Primary completion
- Jul 2016
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Number of Participants With Compliance to the Treatment Protocol. |
100; 58; 58 | — |
| PRIMARY Caregiver Burden |
61 | — |
| PRIMARY Feasibility Measurements of Parental Stress |
111 | — |
| SECONDARY Total Number of Aggressions or Self-injuries |
82 | — |
| SECONDARY Cognitive Function as Assessed by the Capute Scale |
15 | — |
| SECONDARY Repetitive Behavior |
69 | — |
| SECONDARY Self-Injury Trauma Scale--SIT Scale |
— | — |
| SECONDARY Frequency of Seizures Assessed by Total Number of Seizures |
— | — |
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.
Eligibility Criteria
Inclusion Criteria
- Diagnosed with Tuberous Sclerosis Complex as defined by the revised NIH consensus criteria
- Possible autism or autism spectrum disorder and/or possible intellectual disability and/or global developmental delay
- Currently displaying disruptive behaviors, such as self-injury and aggression
- Seizures or epilepsy with at least one seizure within six months prior to enrollment
- 2-30 years of age
- English-speaking caregiver if participant is non-verbal.
- If individuals are currently being treated with everolimus, they must have been taking it for less than or equal to 6 months.
Exclusion Criteria
- 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.
- 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.
- Participants with any of the following laboratory abnormalities will be excluded: hematocrit 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.
- Participants who have medical contraindications to undergoing an MRI will be excluded.
- Participants with devices implanted in the brain will be excluded.
- 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.
- Participants who have a history of herpes simplex virus, cytomegalovirus, and/or HIV infection will be excluded
Data sourced from ClinicalTrials.gov (NCT01929642). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.