Trial · NCT02991807
RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
NCT02991807, Phase 1, Phase 2, Completed, Boston Children's Hospital; results first posted 2025-02-17
3 sourcestrials-2026-11-12-0.5.0
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ConductScience Library. RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome. Trials, record NCT02991807. Release trials-2026-11-12-0.5.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT02991807
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Trial
As registered on ClinicalTrials.gov, in the graph's capture of the registry.
- Title
- RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
- NCT number
- NCT02991807
- Status
- Completed
- Phases
- Phase 1, Phase 2
- Enrollment
- 46 participants, actual
- Lead sponsor
- Boston Children's Hospital
- Conditions
- PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
- Interventions
- RAD001, Placebo
- First posted
- 2016-12-14
- Last updated
- 2025-02-17
- Results first posted
- 2025-02-17
- Limitations and caveats
1\) Small sample size, as recruitment is difficult for rare neurogenetic disorders. 2) A subset of participants was unable to complete all assessments, largely due to the COVID-19 pandemic. Amidst COVID-19 pandemic, participants completed instruments remotely when possible. CPT-3 hit reaction time had a sample size n\<10 at the month 6 timepoint, while the other measures had reasonable sample sizes. 3) Enrollment numbers were insufficient to power subgroup analysis, such as participants with ASD.
Source ClinicalTrials.gov
Registered outcomes8
Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.
| List | Outcome | Time frame | Description |
|---|---|---|---|
| Primary | Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | Through study completion, an average of 6 months | The primary endpoint will be safety as measured by study drop-out rate due to side effects, comparing everolimus vs. placebo. We will also determine the frequency of adverse events by type and severity. This section displays participant dropout rate and for what reason. |
| Primary | Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Adverse Events (AEs) Overview (% of Participants) | Through study completion, an average of 6 months | The primary endpoint will be safety as measured by study drop-out rate due to side effects, comparing everolimus vs. placebo. We will also determine the frequency of adverse events by type and severity. this section displays the number of participants who experienced an AE and the description of such AEs, pertaining to: 1. Seriousness 2. Grade, 3. Relation to treatment 4. Recovery from AE 5. Category |
| Secondary | Change at 6 Months in Composite Score | 6 months | Composite score was based on the following: Stanford-Binet Intelligence Scales, 5th Ed (SB-5) non-verbal and verbal working memory standard score; for the SB-5, the minimum score is 40 and the maximum score is 160, where the higher score represents a better outcome. Conners' Continuous Performance Test, 3rd Ed (CPT-3) hit reaction time standard score (reverse coded; standard score generated from T-score); for the CPT-3, the min score is 0 and the max score is 90, where the lower the T-score, the better the outcome. Purdue Pegboard Test (PPT) both hands standard score (generated from T-score); for the PPT, the min score is 20 and the max score is 190, where the higher the T-score, the better the outcome. For the composite score, the higher the score, the better the outcome. The composite score is on the SS metric (M=100, SD=15, min=20, max=180). |
| Secondary | Change in Processing Speed at 6 Months, Conner's Continuous Performance Test (CPT)-3 | 6 months | Processing speed will be evaluated using mean reaction time on the Conner's Continuous Performance Test (CPT)-3. This outcome evaluates the change from baseline to 6 months. |
| Secondary | Change in Fine Motor Skills at 6 Months, Purdue Pegboard | 6 months | Fine motor skills will be evaluated using the Purdue Pegboard sub-tests average of both hands. This outcome evaluates the change from baseline to 6 months. |
| Secondary | Change in Global Cognitive Ability at 6 Months, Stanford-Binet Intelligence Scales, Fifth Edition (SB-5) or Mullen Scales of Early Learning | 6 months | Change in global cognitive ability will be measured by Stanford-Binet 5 or Mullen; Full scale, verbal and nonverbal ability (IQ). This outcome evaluates the change from baseline to 6 months. |
| Secondary | Change in Motor Functioning at 6 Months, Purdue Pegboard and Developmental Coordination Disorder Questionnaire (DCDQ) | 6 months | Motor functioning will be measured by the Purdue Pegboard (Pegs): Dominant and non-dominant hand combined standard scores and Developmental Coordination Disorder Questionnaire (DCDQ): Total score. This outcome evaluates the change from baseline to 6 months. |
| Secondary | Change in Memory, Executive Functioning, Autism Symptoms, Adaptive Behaviors, and Other Behaviors at 6 Months | 6 months | 1. Change in memory measured by Wide Range Assessment of Memory and Learning (WRAML-2) verbal learning core subtest, delayed recall, and recognition scaled scores over 6 months. 2. Change in executive functioning measured by Behavior Rating Inventory of Executive Function (BRIEF-2) global executive composite standard score over 6 months. 3. Change in autism symptoms measured by Social Responsiveness Scale (SRS-2) total standard score and Repetitive Behaviors Scale (RBS-R) total subscale score over 6 months. 4. Change in adaptive behaviors measured by Vineland Adaptive Behavior Scales (VABS-III) adaptive behavior composite standard score over 6 months. 5. Change in other behaviors measured by Child Behavior Checklist (CBCL) total problems standard score and Short Sensory Profile (SSP) total score over 6 months. |
Source ClinicalTrials.gov
Outcomes8
Each outcome the trial posted results for, in ClinicalTrials.gov's words.
| Type | Outcome | Time frame | Population | Units | Measured as |
|---|---|---|---|---|---|
| PRIMARY | Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | Through study completion, an average of 6 months | Participants | COUNT_OF_PARTICIPANTS | |
| PRIMARY | Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Adverse Events (AEs) Overview (% of Participants) | Through study completion, an average of 6 months | percentage of participants | NUMBER | |
| SECONDARY | Change at 6 Months in Composite Score | 6 months | score on a scale | MEAN | |
| SECONDARY | Change in Processing Speed at 6 Months, Conner's Continuous Performance Test (CPT)-3 | 6 months | Change in processing speed scores were obtained from Conner's Continuous Performance Test (CPT)-3. Change in processing speed subscale scores were converted to standard scores, where a higher score indicates a better result (range 0-100). | score on a scale | MEAN |
| SECONDARY | Change in Fine Motor Skills at 6 Months, Purdue Pegboard | 6 months | Change in fine motor skill scores were obtained from Purdue Pegboard. Fine motor skill scores were generated using standard scores, where a higher score indicates a better result (range 0-100). | score on a scale | MEAN |
| SECONDARY | Change in Global Cognitive Ability at 6 Months, Stanford-Binet Intelligence Scales, Fifth Edition (SB-5) or Mullen Scales of Early Learning | 6 months | Global Cognitive Ability scores were obtained from Stanford Binet 5 or Mullen Scales of Early Learning depending on participant age and testing capability. Global Cognitive Ability subscale scores were converted to standard scores, where a higher score indicates a better result (range 0-100). | score on a scale | MEAN |
| SECONDARY | Change in Motor Functioning at 6 Months, Purdue Pegboard and Developmental Coordination Disorder Questionnaire (DCDQ) | 6 months | Change in motor functioning scores were obtained from Purdue Pegboard Developmental Coordination Disorder Questionnaire (DCDQ). Pegboard motor functioning scores were generated using standard scores, where a higher score indicates a better result (range 0-100). DCDQ motor functioning scores utilize the scale's total score, where higher scores indicate a better result (range 15-75). | score on a scale | MEAN |
| SECONDARY | Change in Memory, Executive Functioning, Autism Symptoms, Adaptive Behaviors, and Other Behaviors at 6 Months | 6 months | WRAML-2 scaled scores (range 1-19, higher = better) BRIEF-2 global executive composite standard score (range 0-100, higher = better) SRS-2 total standard score (range 0-100, higher = better) RBS-R total subscale score (range 0-56, LOWER = better) VABS-III adaptive behavior composite standard score (range 0-100, higher = better) CBCL total problems standard score (range 0-100, higher = better) SSP total score (range 38-190, higher = better) | score on a scale | MEAN |
Source ClinicalTrials.gov
Results by group140
Each measurement the trial posted, group by group, in the words and numbers it posted.
| Outcome | Group | Category | Value | Spread | Units |
|---|---|---|---|---|---|
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | RAD001 | Dropout (Total) | 3 | Participants | |
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | Placebo | Dropout (Total) | 2 | Participants | |
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | Total | Dropout (Total) | 5 | Participants | |
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | RAD001 | Dropout due to participant/parent request | 2 | Participants | |
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | Placebo | Dropout due to participant/parent request | 1 | Participants | |
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | Total | Dropout due to participant/parent request | 3 | Participants | |
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | RAD001 | Dropout due to investigator request | 0 | Participants | |
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | Placebo | Dropout due to investigator request | 1 | Participants | |
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | Total | Dropout due to investigator request | 1 | Participants | |
| Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability], Dropout | RAD001 | Dropout due to other requests | 1 | Participants |
1 to 10 of 140Source ClinicalTrials.gov
See all 140 results by groupParticipant flow6
How many started, completed or left each group, period by period.
| Period | Milestone | Group | Participants | Units counted |
|---|---|---|---|---|
| Overall Study | STARTED | RAD001 | 24 | |
| Overall Study | STARTED | Placebo | 22 | |
| Overall Study | COMPLETED | RAD001 | 21 | |
| Overall Study | COMPLETED | Placebo | 20 | |
| Overall Study | NOT COMPLETED | RAD001 | 3 | |
| Overall Study | NOT COMPLETED | Placebo | 2 |
Source ClinicalTrials.gov
Adverse events118
Each adverse event the trial posted, group by group: the participants affected out of those at risk.
| Type | Event | Organ system | Group | Affected | At risk | Events |
|---|---|---|---|---|---|---|
| other | Stomatitis | General disorders | RAD001 | 3 | 24 | |
| other | Stomatitis | General disorders | Placebo | 0 | 22 | |
| other | Gastrointestinal disorders | RAD001 | 1 | 24 | ||
| other | Gastrointestinal disorders | Placebo | 0 | 22 | ||
| other | Fatigue | General disorders | RAD001 | 0 | 24 | |
| other | Fatigue | General disorders | Placebo | 1 | 22 | |
| other | Low Tolerance for Frustration | Psychiatric disorders | RAD001 | 0 | 24 | |
| other | Low Tolerance for Frustration | Psychiatric disorders | Placebo | 1 | 22 | |
| other | Anxiety | Psychiatric disorders | RAD001 | 1 | 24 | |
| other | Anxiety | Psychiatric disorders | Placebo | 0 | 22 |
1 to 10 of 118Source ClinicalTrials.gov
See all 118 adverse eventsAdverse event totals6
The totals the trial posted for each group.
| Total | Group | Affected | At risk |
|---|---|---|---|
| Total, all-cause mortality | RAD001 | 0 | 24 |
| Total, all-cause mortality | Placebo | 0 | 22 |
| Total, other adverse events | RAD001 | 21 | 24 |
| Total, other adverse events | Placebo | 13 | 22 |
| Total, serious adverse events | RAD001 | 3 | 24 |
| Total, serious adverse events | Placebo | 0 | 22 |
Source ClinicalTrials.gov
Papers1
The papers the trial lists on ClinicalTrials.gov.
| PMID | Listed as |
|---|---|
| 35594551 | DERIVED |
Source PubMed
Grants1
The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.
| Project | Title | Principal investigators | Organization | Funder | Fiscal years |
|---|---|---|---|---|---|
| U54NS092090 | Developmental Synaptopathies Associated with TSC, PTEN, SHANK3 and SynGAP1 Pathogenic Variants | SAHIN, MUSTAFA | BOSTON CHILDREN'S HOSPITAL | NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE | 2014 to 2025 |
Source NIH RePORTER
Trial comparisons2
Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.
| Comparison | Source |
|---|---|
| RAD001 vs Placebo: deaths from any cause | Trial comparisons |
| RAD001 vs Placebo: serious adverse events | Trial comparisons |
Tests1
The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.
| Test | Named as |
|---|---|
| Continuous Performance Test | Secondary outcome |
Source ConductCognition
Data dates
The day each source was copied for this release.
Sources 3
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ClinicalTrials.govNo license stated
- NIH RePORTER's clinical studies and project filesPublic domain
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ClinicalTrials.govnone stated
- NIH RePORTER's clinical studies and project filesPublic domain (NIH RePORTER)
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this trial from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/trials/v1/NCT02991807
GET https://conductscience.org/api/trials/v1/NCT02991807/results?page=2