Rapalogues for Autism Phenotype in TSC: A Feasibility Study (NCT01929642) | Clinical Trial Compass
CompletedPhase 2
Rapalogues for Autism Phenotype in TSC: A Feasibility Study
United States3 participantsStarted 2013-07
Plain-language 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.
Who can participate
Age range
2 Years – 30 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Number of Participants With Compliance to the Treatment Protocol.
Timeframe: Change from baseline to EOT visit 12 week 53
2
Caregiver Burden
Timeframe: Change from baseline to EOT visit 12 week 53
3
Feasibility Measurements of Parental Stress
Timeframe: Change from baseline to EOT visit 12 week 53
Trial details
NCT IDNCT01929642
SponsorHugo W. Moser Research Institute at Kennedy Krieger, Inc.
. 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 \< 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.
. 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