Trial · NCT02428296
Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation
NCT02428296, Phase 2, Completed, National Human Genome Research Institute (NHGRI); results first posted 2020-01-27
3 sourcestrials-2026-11-12-0.5.0
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ConductScience Library. Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation. Trials, record NCT02428296. Release trials-2026-11-12-0.5.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT02428296
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Trial
As registered on ClinicalTrials.gov, in the graph's capture of the registry.
- Title
- Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation
- NCT number
- NCT02428296
- Status
- Completed
- Phases
- Phase 2
- Enrollment
- 39 participants, actual
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Conditions
- PIK3CA-Related Overgrowth Spectrum (PROS), Growth Disorder, Genetics
- Interventions
- Sirolimus
- First posted
- 2015-04-28
- Last updated
- 2020-02-05
- Results first posted
- 2020-01-27
- Limitations and caveats
Phenotypic heterogeneity; post hoc subanalyses and QoL assessments had small sample sizes; overestimation of AEs; interruption of treatment due to intercurrent AEs; asymmetric overgrowth not included in primary outcome analysis
Source ClinicalTrials.gov
Registered outcomes5
Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.
| List | Outcome | Time frame | Description |
|---|---|---|---|
| Primary | Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by DXA | Run-in (0-26 weeks), treatment (26-52 weeks) | The primary outcome measures will use quantitative DXA scan of the affected and unaffected body part (s) to demonstrate negative change in fibrofatty, muscular, and/or bony overgrowth. Absolute volumes of affected and unaffected tissue at week 0 (designated X), week 26 (designated Y), and week 52 (designated Z), were compared by taking the difference between the mean value obtained during the run-in period and the mean value obtained during the treatment period. Tissue volume changes (week 0-26 and week 26-52) were designated "DELTA," and the percent change "% Change." Percent change for the untreated period was \[100(Y-X/X)\], and for the treated period \[100(Z-Y/Y)\]. |
| Primary | Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by MRI Scan | Run-in (0-26 weeks), treatment (26-52 weeks) | The outcome was measured as a percent change in tissue volume between the treatment period and run-in period. For volume calculation, IDEAL fat (Dixon sequence) images were visualized using volumetric software (SliceOmatic, TomoVision, Magog, Canada). Morphology segmentation was performed through computation of watershed gradients. Tissues (fat, muscle, bone, and blood vessel) were manually defined and software was used to generate a surrogate of tissue volume using five slices, with manual adjustments where required. Absolute volumes of affected and unaffected tissue at week 0 (designated X), week 26 (designated Y), and week 52 (designated Z), were compared. Tissue volume changes (week 0-26 and week 26-52) were designated "DELTA," and the percent change "% Change." Percent change for the untreated period was \[100(Y-X/X)\], and for the treated period \[100(Z-Y/Y)\]. |
| Secondary | Mean Sirolimus Doses to Achieve the Target Plasma Concentration | Between 6 months and 12 months | To establish optimal sirolimus dosing algorithms for a future RCT. |
| Secondary | Additional Measure of Efficacy: Quality of Life Assessment | baseline (0 months) and end of treatment (12 months) | The World Health Organization Quality of Life-BREF (WHOQOL-BREF) assessment measures four domains related to quality of life (physical health, psychological, social relationships, and environment) and produces both individual domain scores (0-100) a total score on a 0-100 scale (high scores indicate a better quality of life). This measure was used to assess quality of life of parents on behalf of their children, and adult subjects. The Pediatric Quality of Life (PedsQL) assessment is scored on a 0-100 scale (high scores indicate a better health related quality of life). This measure was used to assess quality of life of children. The outcomes are reported as a change in quality of life based on the change in scores from these assessments between baseline (time 0 months) and end of treatment (time 12 months). |
| Secondary | Number of Hospitalizations and Surgical Interventions | Run-in (0-26 weeks) and treatment (27-52 weeks) | Tracked number of hospitalizations and surgical interventions occurring over the course of the run-in and treatment period. |
Source ClinicalTrials.gov
Outcomes5
Each outcome the trial posted results for, in ClinicalTrials.gov's words.
| Type | Outcome | Time frame | Population | Units | Measured as |
|---|---|---|---|---|---|
| PRIMARY | Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by DXA | Run-in (0-26 weeks), treatment (26-52 weeks) | The anatomy of 23 patients permitted DXA analysis of affected versus unaffected tissue. | mean percentage change in tissue volume | MEAN |
| PRIMARY | Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by MRI Scan | Run-in (0-26 weeks), treatment (26-52 weeks) | Ten MRI series were analyzed. Only six of ten MRI series that were eligible for analysis included both affected and unaffected sites (the remaining only measured affected tissue). | percentage of tissue volume change | MEAN |
| SECONDARY | Mean Sirolimus Doses to Achieve the Target Plasma Concentration | Between 6 months and 12 months | All patients were analyzed to determine at which dose the patient would reach the target plasma concentration. | mg/day | MEAN |
| SECONDARY | Additional Measure of Efficacy: Quality of Life Assessment | baseline (0 months) and end of treatment (12 months) | Children (N=15) and parents of children (N=19) were administered quality of life questionnaires. Adult subjects (N=9) were also administered quality of life questionnaires, but the scores were reported as individual domain mean scores; health total mean scores were not reported. Total score data for adults was not analyzed or reported. | mean change in quality of life score | MEAN |
| SECONDARY | Number of Hospitalizations and Surgical Interventions | Run-in (0-26 weeks) and treatment (27-52 weeks) | number of events | NUMBER |
Source ClinicalTrials.gov
Results by group20
Each measurement the trial posted, group by group, in the words and numbers it posted.
| Outcome | Group | Category | Value | Spread | Units |
|---|---|---|---|---|---|
| Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by DXA | Affected Tissue | Run-in period | 7.9 | Standard Deviation 12.8 | mean percentage change in tissue volume |
| Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by DXA | Unaffected Tissue | Run-in period | 4.8 | Standard Deviation 9.7 | mean percentage change in tissue volume |
| Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by DXA | Affected Tissue | Treatment period | 0.71 | Standard Deviation 10.2 | mean percentage change in tissue volume |
| Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by DXA | Unaffected Tissue | Treatment period | 6.5 | Standard Deviation 12.3 | mean percentage change in tissue volume |
| Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by DXA | Affected Tissue | Change in mean percentage change of tissue volume | -7.2 | Standard Deviation 16.0 | mean percentage change in tissue volume |
| Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by DXA | Unaffected Tissue | Change in mean percentage change of tissue volume | 1.7 | Standard Deviation 11.5 | mean percentage change in tissue volume |
| Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by MRI Scan | Affected Tissue | -3.7 | Standard Deviation 12.3 | percentage of tissue volume change | |
| Percent Change in Unaffected and Affected Fibrofatty Tissue Measured by MRI Scan | Unaffected Tissue | 0 | Standard Deviation 16.7 | percentage of tissue volume change | |
| Mean Sirolimus Doses to Achieve the Target Plasma Concentration | PIK3CA-Related Overgrowth Spectrum Patients | Adults | 1.2 | 95% Confidence Interval 1.1 to 1.3 | mg/day |
| Mean Sirolimus Doses to Achieve the Target Plasma Concentration | PIK3CA-Related Overgrowth Spectrum Patients | Children | 1.16 | 95% Confidence Interval 1.0 to 1.3 | mg/day |
1 to 10 of 20Source ClinicalTrials.gov
See all 20 results by groupParticipant flow4
How many started, completed or left each group, period by period.
| Period | Milestone | Group | Participants | Units counted |
|---|---|---|---|---|
| Overall Study | STARTED | PIK3CA-Related Overgrowth Spectrum Patients | 39 | |
| Overall Study | Treated | PIK3CA-Related Overgrowth Spectrum Patients | 39 | |
| Overall Study | COMPLETED | PIK3CA-Related Overgrowth Spectrum Patients | 30 | |
| Overall Study | NOT COMPLETED | PIK3CA-Related Overgrowth Spectrum Patients | 9 |
Source ClinicalTrials.gov
Adverse events26
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 | Blood and lymphatic disorders | Blood and lymphatic system disorders | PIK3CA-Related Overgrowth Spectrum Patients | 8 | 39 | 8 |
| other | Gastrointestinal disorders | Gastrointestinal disorders | PIK3CA-Related Overgrowth Spectrum Patients | 2 | 39 | 2 |
| other | Infections and infestations | Infections and infestations | PIK3CA-Related Overgrowth Spectrum Patients | 16 | 39 | 21 |
| other | Injury, poisoning, and procedural complications | Injury, poisoning and procedural complications | PIK3CA-Related Overgrowth Spectrum Patients | 1 | 39 | 1 |
| other | Metabolism and nutrition disorders | Metabolism and nutrition disorders | PIK3CA-Related Overgrowth Spectrum Patients | 3 | 39 | 3 |
| other | Musculoskeletal and connective tissue disorders | Musculoskeletal and connective tissue disorders | PIK3CA-Related Overgrowth Spectrum Patients | 1 | 39 | 1 |
| other | Nervous system disorders | Nervous system disorders | PIK3CA-Related Overgrowth Spectrum Patients | 2 | 39 | 2 |
| other | Renal and urinary disorders | Renal and urinary disorders | PIK3CA-Related Overgrowth Spectrum Patients | 1 | 39 | 1 |
| other | Respiratory, thoracic and mediastinal disorders | Respiratory, thoracic and mediastinal disorders | PIK3CA-Related Overgrowth Spectrum Patients | 2 | 39 | 2 |
| other | Skin and subcutaneous disorders | Skin and subcutaneous tissue disorders | PIK3CA-Related Overgrowth Spectrum Patients | 2 | 39 | 2 |
1 to 10 of 26Source ClinicalTrials.gov
See all 26 adverse eventsAdverse event totals3
The totals the trial posted for each group.
| Total | Group | Affected | At risk |
|---|---|---|---|
| Total, all-cause mortality | PIK3CA-Related Overgrowth Spectrum Patients | 0 | 39 |
| Total, other adverse events | PIK3CA-Related Overgrowth Spectrum Patients | 31 | 39 |
| Total, serious adverse events | PIK3CA-Related Overgrowth Spectrum Patients | 12 | 39 |
Source ClinicalTrials.gov
Papers4
The papers the trial lists on ClinicalTrials.gov.
Grants0
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.
None in this release.
Trial comparisons0
Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.
None in this release.
Tests0
The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.
None in this release.
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/NCT02428296
GET https://conductscience.org/api/trials/v1/NCT02428296/events?page=2