Autism Clinical Trial
— RAPTOfficial title:
Rapalogues for Autism Phenotype in TSC: A Feasibility Study
NCT number | NCT01929642 |
Other study ID # | AM00037881 |
Secondary ID | |
Status | Completed |
Phase | Phase 2 |
First received | |
Last updated | |
Start date | July 2013 |
Est. completion date | August 2016 |
Verified date | March 2021 |
Source | Hugo W. Moser Research Institute at Kennedy Krieger, Inc. |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
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.
Status | Completed |
Enrollment | 3 |
Est. completion date | August 2016 |
Est. primary completion date | July 2016 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 2 Years to 30 Years |
Eligibility | 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 |
Country | Name | City | State |
---|---|---|---|
United States | Kennedy Krieger Institute | Baltimore | Maryland |
Lead Sponsor | Collaborator |
---|---|
Hugo W. Moser Research Institute at Kennedy Krieger, Inc. |
United States,
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* Note: There are 47 references in all — Click here to view all references
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Number of Participants With Compliance to the Treatment Protocol. | One outcome measurement of feasibility will include family/patient compliance with the treatment protocol, which will be assessed and documented at every study visit and telephone follow-up call, by the physician and/or study team member. This was calculated by calculating dividing the total number of study visits and study assessments completed by the total number of study visits and study assessments indicated by the treatment protocol. | Change from baseline to EOT visit 12 week 53 | |
Primary | Caregiver Burden | The Caregiver Burden Scale is a standard set of questions which will be used to measure the non-medical impact of TSC on caregivers and how it affects the feasibility of study completion.
The Caregiver's Burden Scale (CBS) is a 22-item scale that assess subjectively experienced burden by caregiver's to chronically disabled persons. maximum scores: 88 & Minumum scores: 22 High values represent a worse outcome |
Change from baseline to EOT visit 12 week 53 | |
Primary | Feasibility Measurements of Parental Stress | Measurements of stress will be administered. Specifically, we will use the Parental Stress Index. Quantifying stress, as well as compliance with the study protocol, will allow investigators to objectively assess the feasibility of a larger clinical trial of sirolimus in patients with TSC.
Parental stress index maximum score: 180 Parental stress index minimum score: 36 higher raw scores indicate higher levels of stress. |
Change from baseline to EOT visit 12 week 53 | |
Secondary | Total Number of Aggressions or Self-injuries | This is the total number of aggressions or self-injuries for all participants. | 1 year | |
Secondary | Cognitive Function as Assessed by the Capute Scale | Score range maximum: 100 Score range minimum: 0
High values represent a high cognitive function Below 70 is abnormal. 70-100 is the normal range. |
1 year | |
Secondary | Repetitive Behavior | Repetitive behavior will be assessed using the Repetitive Behavior Scale - revised, a questionnaire to characterize several domains of repetitive behavior including ritualistic behavior, stereotypic behavior, self-injurious behavior, compulsive behavior, and restricted interests.
There are 36 items on the scale. Behaviors are rated on a 4-point scale: 0-Behavior does not occur, 1-Behavior occurs and is a mild problem, 2-Behavior occurs and is a moderate problem, 3-Behavior occurs and is a severe problem. Maximum score: 108 & minimum score: 0 A high score represents the worse outcome |
1 year | |
Secondary | Self-Injury Trauma Scale--SIT Scale | The SIT Scale is a 3-part clinician-completed scale used to quantify visible injuries caused by self-injurious behavior(SIB). Part 1 includes sections to indicate SIB topographies and any evidence of healed injury. In Part 2 evaluators document the location and severity of injury (on a 3-point scale). In Part 3, respective scores from Parts 1 and 2 are summed to obtain a Number Index, a Severity Index, and Estimate of Current Risk. This Scale has been used in research with adults with SIB with inter-rater reliability averaging 85%.
Maximum score: 100 Minimum score: 0 High score represent worse outcome. |
1 year | |
Secondary | Frequency of Seizures Assessed by Total Number of Seizures | Parents will be asked to document the frequency of their child's seizures using a manual or electronic (seizuretracker.com) seizure diary. The total number of seizures at baseline for all participants. | at baseline |
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