Trial Outcomes & Findings for Rapalogues for Autism Phenotype in TSC: A Feasibility Study (NCT NCT01929642)

Results Overview

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.

Recruitment status

COMPLETED

Study phase

PHASE2

Target enrollment

3 participants

Primary outcome timeframe

Change from baseline to EOT visit 12 week 53

Results posted on

2021-03-29

Participant Flow

Participant milestones

Participant milestones
Measure	Sirolimus or Everolimus Oral solution or tablet,titrated to therapeutic serum trough range (sirolimus); Oral tablet, titrated to therapeutic serum trough range (everolimus) Sirolimus Everolimus
Overall Study STARTED	3
Overall Study COMPLETED	1
Overall Study NOT COMPLETED	2

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Rapalogues for Autism Phenotype in TSC: A Feasibility Study

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Everolimus or Sirolimus n=3 Participants Medication choice
Age, Continuous	7 years n=5 Participants
Sex: Female, Male Female	2 Participants n=5 Participants
Sex: Female, Male Male	1 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants
Race (NIH/OMB) Asian	1 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants
Race (NIH/OMB) Black or African American	0 Participants n=5 Participants
Race (NIH/OMB) White	2 Participants n=5 Participants
Race (NIH/OMB) More than one race	0 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants
Region of Enrollment United States	3 Participants n=5 Participants

PRIMARY outcome

Timeframe: Change from baseline to EOT visit 12 week 53

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.

Outcome measures

Outcome measures
Measure	Everolimus or Sirolimus n=3 Participants Medication
Number of Participants With Compliance to the Treatment Protocol. Participant 002	100 percentage of completed visits/measures
Number of Participants With Compliance to the Treatment Protocol. Participant 003	58 percentage of completed visits/measures
Number of Participants With Compliance to the Treatment Protocol. Participant 001	58 percentage of completed visits/measures

PRIMARY outcome

Timeframe: Change from baseline to EOT visit 12 week 53

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

Outcome measures

Outcome measures
Measure	Everolimus or Sirolimus n=3 Participants Medication
Caregiver Burden	61 units on a scale Interval 45.0 to 70.0

PRIMARY outcome

Timeframe: Change from baseline to EOT visit 12 week 53

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.

Outcome measures

Outcome measures
Measure	Everolimus or Sirolimus n=3 Participants Medication
Feasibility Measurements of Parental Stress	111 units on a scale Interval 86.0 to 132.0

SECONDARY outcome

Timeframe: 1 year

This is the total number of aggressions or self-injuries for all participants.

Outcome measures

Outcome measures
Measure	Everolimus or Sirolimus n=3 Participants Medication
Total Number of Aggressions or Self-injuries	82 Number of aggressions or self-injuries

SECONDARY outcome

Timeframe: 1 year

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.

Outcome measures

Outcome measures
Measure	Everolimus or Sirolimus n=3 Participants Medication
Cognitive Function as Assessed by the Capute Scale	15 score on a scale Interval 14.0 to 21.0

SECONDARY outcome

Timeframe: 1 year

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

Outcome measures

Outcome measures
Measure	Everolimus or Sirolimus n=3 Participants Medication
Repetitive Behavior	69 score on a scale Interval 58.0 to 80.0

SECONDARY outcome

Timeframe: 1 year

Population: Self-injury was not severe enough to use the scale. Therefore analysis was not done.

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.

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: at baseline

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.

Outcome measures

Outcome measures
Measure	Everolimus or Sirolimus n=3 Participants Medication
Frequency of Seizures Assessed by Total Number of Seizures	0 seizures

Adverse Events

Everolimus

Serious events: 0 serious events

Other events: 1 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure	Everolimus n=3 participants at risk
Skin and subcutaneous tissue disorders aphthous ulcer	33.3% 1/3 • Number of events 1

Additional Information

Dr. Tanjala Gipson

Boling Center for Developmental Disabilities

Phone: 901-448-6512

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place