This page provides an independent statistical analysis and educational interpretation of publicly reported results. ClinicalTrials.gov provides the official trial registry record. Numerical trial results on this page are restricted to the results posted in the ClinicalTrials.gov record; calculations added by Clinical Biostats are labelled as such.
1. Trial at a Glance
This page covers the registry results for Growth Hormone Treatment in Children With Phelan McDermid Syndrome (NCT04003207), a na phase 2 study. The primary outcome is ABC - Social Withdrawal Subscale.
| Feature | Registry value |
|---|---|
| ClinicalTrials.gov identifier | NCT04003207 |
| Phase | Phase 2 |
| Condition | Phelan McDermid Syndrome |
| Allocation | Not applicable (single group) |
| Design model | Single Group |
| Masking | None (open label) |
| Enrollment | 6 |
| Arms in the primary outcome | n/a |
| Lead sponsor | Swathi Sethuram |
| Results posted | Yes |
2. Clinical Question
Population
Children with Phelan-McDermid syndrome were the study population. The brief summary describes eligibility for children aged 2-12 years, if found eligible. The registry record does not report further eligibility details or characteristics of the participants who enrolled.
Intervention
The intervention was recombinant human growth hormone, given daily for 12 weeks. The arm description also specifies 12 weeks of growth hormone therapy. The registry record does not report the dose or additional details of how treatment was delivered.
Comparator
There was no separate comparator group: the design is listed as single group, with allocation recorded as not applicable. The trial was open label and had no masking. The registry record therefore does not provide a concurrent control group for comparison.
Primary question
The study targeted social withdrawal and listed the ABC Social Withdrawal Subscale as its primary endpoint after 12 weeks of therapy. It sought to evaluate behavioral outcomes; the registry record does not report the primary endpoint’s observed result or a between-group treatment comparison.
3. Trial Design
This was a phase 2, open-label trial of recombinant human growth hormone in children with Phelan-McDermid syndrome. The registry lists a single-group model and an enrollment of 6. Allocation is recorded as not applicable, and masking is listed as none. The arm description says participants received growth hormone therapy for 12 weeks. The brief summary describes daily treatment for children aged 2-12 years who were found eligible.
A single-group design can describe outcomes observed among people receiving an intervention, but it does not provide a concurrent untreated or alternative-treatment group. In this open-label design, participants and study personnel were not masked to treatment assignment. Consequently, changes over time, if measured, could not be separated from other influences using a randomized between-group contrast in this record.
The registry status is completed. The registry record does not report how many participants completed treatment or contributed data to the primary endpoint, and it does not report the analysis population. It also does not report the growth hormone dose, eligibility criteria beyond the summary description, or the statistical plan. These omissions limit assessment of treatment exposure, follow-up, and how the endpoint data were handled.
4. Participant Flow and Accounting
The registry reports how participants moved through each stage of the study. All counts below are exactly as posted; missing counts are not inferred from other stages.
Overall Study
| Stage | Phelan-McDermid Syndrome |
|---|---|
| STARTED | 6 |
| COMPLETED | 5 |
| NOT COMPLETED | 1 |
Reasons for not completing this period:
| Reason | Phelan-McDermid Syndrome |
|---|---|
| Protocol Violation | 1 |
5. Baseline Characteristics
The table reproduces the baseline characteristics posted in the registry, which describe the participants analysed at baseline and help show whether the randomized groups were comparable.
| Characteristic | Unit | Phelan-McDermid Syndrome |
|---|---|---|
| Participants analysed | 6 | |
| Age, Continuous | years | 7.5 (SD 3.2) |
| Sex: Female, Male: Female | Participants | 4 |
| Sex: Female, Male: Male | Participants | 2 |
| Ethnicity (NIH/OMB): Hispanic or Latino | Participants | 0 |
| Ethnicity (NIH/OMB): Not Hispanic or Latino | Participants | 6 |
| Ethnicity (NIH/OMB): Unknown or Not Reported | Participants | 0 |
| Race (NIH/OMB): American Indian or Alaska Native | Participants | 0 |
| Race (NIH/OMB): Asian | Participants | 2 |
| Race (NIH/OMB): Native Hawaiian or Other Pacific Islander | Participants | 0 |
| Race (NIH/OMB): Black or African American | Participants | 0 |
| Race (NIH/OMB): White | Participants | 4 |
| Race (NIH/OMB): More than one race | Participants | 0 |
| Race (NIH/OMB): Unknown or Not Reported | Participants | 0 |
6. Primary Endpoint
The registry lists the primary outcome as ABC - Social Withdrawal Subscale, measured over After 12 weeks of growth hormone therapy.
| Element | Registry entry |
|---|---|
| Result type | Mean |
| Measure of spread | Standard Deviation |
| Unit | score on a scale |
| Endpoint classification | Continuous Endpoint |
The primary endpoint is the ABC Social Withdrawal Subscale, described as a caregiver-report symptom checklist. It is one of five subscales in a 58-item instrument. The subscale concerns lethargy and social withdrawal and ranges from 0-48; the registry description says higher scores indicate more aberrant behavior. The primary endpoint is specified at the time after 12 weeks of growth hormone therapy.
A caregiver report can capture observed behavior in daily life, while a defined subscale provides a consistent scoring framework for describing that behavior. The registry lists the endpoint as a continuous measure summarized by a mean and standard deviation. In general, the mean describes the center of observed scores, while the standard deviation describes their spread. These summaries do not, by themselves, show whether scores changed from baseline or whether an observed difference is attributable to treatment.
The registry record does not report the observed primary-endpoint mean or standard deviation, a baseline score, or a change-from-baseline result. It therefore does not permit assessment of the direction or size of the reported behavioral outcome.
7. Why No Re-analysis Is Shown
8. Statistical Interpretation
The registry identifies the ABC Social Withdrawal Subscale after 12 weeks as the primary endpoint, but does not report its observed value. The posted results therefore do not establish whether scores were higher, lower, or unchanged, nor how variable participant scores were. No effect estimate or confidence interval for this endpoint is reported in the registry record. Without those quantities, the magnitude and precision of any behavioral finding cannot be evaluated.
The design also limits what an observed before-and-after pattern could establish. This was a single-group, open-label trial, not a randomized comparison. Without a concurrent control group, an outcome pattern cannot distinguish an effect of treatment from changes over time or other influences. Open-label participation can also affect caregiver reports or other assessments. These are general design considerations, not evidence that any particular bias occurred in this trial.
Enrollment was 6, so estimates from this study would be based on a small group. In general, estimates from small groups can be imprecise, and individual observations can have substantial influence on summaries. A confidence interval, when reported, describes uncertainty around an estimate under the analysis assumptions; it does not remove the limitations of the design. The registry record does not report a confidence interval for the primary endpoint.
The registry lists 6 participants with other adverse events and 0 with serious adverse events; deaths are listed as 0. These counts describe the registry’s adverse-event categories, not the primary behavioral outcome. They do not establish that an event could or could not occur outside the observed study group. The registry record does not provide serious adverse-event terms.
Overall, the record describes the trial’s purpose, design, endpoint, and adverse-event counts, but not the primary endpoint results or outcome analyses. Conclusions about the direction, size, or statistical uncertainty of a behavioral outcome cannot be drawn from the reported endpoint information.
9. Statistical Methods Explained
What does a single-group design estimate?
In general, a single-group study describes outcomes observed among participants who receive the intervention. If outcomes are measured at more than one time, a within-participant change may be described, but it is not equivalent to a comparison against a concurrent control group. A control group can help account for changes that would have occurred over time without the intervention. This trial is listed as single group, with allocation not applicable, so the registry does not present that kind of controlled contrast.
The open-label designation means masking was absent. In general, knowledge of treatment can influence behavior, reporting, care, or outcome assessment. A caregiver-reported behavioral scale may be especially dependent on observations and reports made by people who know the treatment context. This does not show that reporting was biased in this trial; it identifies a consideration when interpreting such measurements.
What do a mean and standard deviation convey?
The primary endpoint is specified as a continuous measure, summarized by a mean and standard deviation. In general, the mean is an average that describes the location of measured scores. The standard deviation describes how dispersed individual scores are around that mean. The two summaries are complementary: a mean alone does not show whether observations cluster closely or vary widely.
These summaries need an analysis population and observed data to be interpretable. The registry record does not report the primary-endpoint mean, standard deviation, or analysis population. It also does not report whether the primary result was based on a final score, a change from baseline, or another analysis. The endpoint timeframe is stated as after 12 weeks of therapy, but a timeframe alone does not supply an estimate.
How should uncertainty be understood?
In general, a confidence interval gives a range of values compatible with an estimate under the statistical model and assumptions used. A narrow interval indicates greater precision than a wide interval, while an interval that includes values on different sides of a null value may leave the direction or presence of an effect uncertain. Interpretation depends on the estimate, the interval, and the outcome scale. No confidence interval for the primary endpoint is reported in the registry record, so its statistical precision cannot be assessed.
A p-value, when reported, measures how unusual data at least as extreme as those observed would be under a specified null hypothesis and model. It is not the probability that the null hypothesis is true, and it does not measure clinical importance. The registry record lists no outcome analyses, and no primary-endpoint p-value is reported.
What do the planning assumptions mean?
In general, a sample-size calculation is a planning exercise about how many participants may be needed to detect a specified effect under stated assumptions. The planning assumptions associated with this record specify a two-sided significance level of 0.05, equal allocation between two arms, a normal approximation, and an effect defined as a stated fraction of the observed effect. Those assumptions do not describe this trial’s single-group design, and the resulting sample sizes, if used for planning, are not observed power. Observed power is not an interpretation of the trial’s results.
The planning assumptions also refer to participants per arm for outcomes other than time-to-event outcomes, for which the stated convention is total events. These are conventions for a planning illustration, not counts of participants or events observed in this trial. The registry record does not report a sample-size justification or explain how any planning assumptions informed the trial design.
Why does over-dispersion matter in general?
For some outcome models, over-dispersion means the observed variability exceeds what a model’s assumptions allow. Ignoring it can make standard errors too small and uncertainty appear more limited than it is. This is a general statistical issue, not a reported feature of this study. The registry record does not describe a model for the primary endpoint or report a test or adjustment for over-dispersion.
More broadly, statistical methods are needed to connect the observations to estimates and uncertainty. The registry record does not report the primary-endpoint analysis method, covariate adjustment, handling of repeated measurements, or sensitivity analyses. Their absence from the record means those procedures cannot be evaluated from the reported information.
10. Multiplicity, Missing Data and Analysis Populations
The registry lists 6 outcome measures and names visual evoked potentials and change in auditory event-related potentials among the secondary outcomes. The primary endpoint is the ABC Social Withdrawal Subscale. When studies assess multiple outcomes or conduct multiple analyses, the chance of a nominally unusual finding can increase. In general, a statistical plan may specify which outcome is primary and how any multiplicity is handled. The registry record does not report a multiplicity adjustment or a strategy for interpreting results across outcomes.
The record lists no outcome analyses, and it does not report results for the primary endpoint. It therefore does not show which analyses were conducted, how results for secondary outcomes were handled, or whether any analyses were planned in advance. A statistical analysis plan is not reported in the registry record.
Missing-data handling is also not reported. The registry does not state whether any primary-endpoint observations were missing, how missing observations were addressed, or whether participants who did not contribute endpoint data were included in any analysis. Enrollment of 6 does not, by itself, establish how many participants had complete follow-up data.
The analysis populations are not reported in the registry record. For example, the record does not specify which participants were included in endpoint analyses or how treatment exposure and follow-up affected inclusion. These details matter because an estimate can depend on who contributes data and how incomplete observations are handled. Without this information, the analysis population and potential consequences of missing data cannot be assessed.
11. Safety Results
The registry reports serious adverse events as affected participants divided by participants at risk.
| Arm | Participants with serious adverse events | Participants at risk | Percentage |
|---|---|---|---|
| Phelan-McDermid Syndrome | 0 | 6 | 0.0% |
Deaths
| Arm | Deaths (participants affected of at risk) |
|---|---|
| Phelan-McDermid Syndrome | 0 of 6 |
Other (non-serious) adverse events
Participants with at least one non-serious event at or above the registry's 0% reporting threshold.
| Arm | Participants affected of at risk |
|---|---|
| Phelan-McDermid Syndrome | 6 of 6 |
Most frequent non-serious adverse event terms
| Event term | Organ system | Phelan-McDermid Syndrome |
|---|---|---|
| Increase in appetite | Gastrointestinal disorders | 3 of 6 |
| Gastroenteritis | Gastrointestinal disorders | 3 of 6 |
| Polyuria/nocturia | Renal and urinary disorders | 3 of 6 |
| Crying spells | Psychiatric disorders | 3 of 6 |
| Runny nose/cough/sneezing | General disorders | 3 of 6 |
| Decrease in appetite | Gastrointestinal disorders | 2 of 6 |
| Fever | Infections and infestations | 2 of 6 |
| Worsening repetitive behavior | Psychiatric disorders | 2 of 6 |
| Eye/ear infection | Infections and infestations | 2 of 6 |
| Diarrhea | Gastrointestinal disorders | 1 of 6 |
The registry lists 0 participants with serious adverse events among 6 at risk in the Phelan-McDermid syndrome group, and 0 deaths. It also lists 6 participants with other adverse events among 6 at risk. These are participant counts in the registry’s separate serious and other adverse-event categories; they are not counts of distinct events.
A zero count of serious adverse events means none were recorded in that category for the listed group. It does not establish that serious events are impossible or that the intervention is free of risk. In general, safety findings from a small group provide limited information about uncommon events. The registry record does not list serious adverse-event terms, and it does not provide details about the type, timing, severity, or duration of the other adverse events.
These safety counts do not answer the behavioral endpoint question. They should be read as descriptive information from the registry record, not as a controlled comparison of safety between treatments.
12. What the Result Does, and Does Not, Mean
This trial record documents an open-label, single-group study of growth hormone in children with Phelan-McDermid syndrome, with social withdrawal identified as the primary behavioral focus. The primary endpoint is defined as the ABC Social Withdrawal Subscale after 12 weeks of therapy. The record also lists adverse-event counts, including 0 participants with serious adverse events and 0 deaths.
The registry record does not report the observed primary-endpoint result, an effect estimate, or its uncertainty. It therefore does not establish the direction or magnitude of any change in social withdrawal. The listed adverse-event counts likewise do not, by themselves, establish comparative safety or rule out events beyond those recorded in this study.
Even if outcome scores were available, the design would remain important to interpretation. A single-group study has no concurrent comparator, so it cannot separate treatment-associated changes from other changes over time. Open-label assessment can also affect reports or measurement. These general limitations do not negate what a study can describe, but they restrict causal interpretation.
The record can be read as a description of the trial question, treatment period, endpoint definition, and reported adverse-event counts. It cannot support a conclusion about whether growth hormone changed the primary behavioral outcome, how large a change might have been, or how precisely that effect was estimated. Those results are not reported in the registry record.
13. Why This Trial Matters Statistically
Statistically, this trial matters as an example of the distinction between a clearly specified research question and results that allow an effect to be estimated. The record identifies social withdrawal as the target and names a caregiver-report subscale as the primary endpoint. That makes the intended outcome understandable, but the absence of the observed endpoint result prevents assessment of its direction, size, or precision.
The design also illustrates the role of comparison groups. A single-group, open-label study can document what was observed among participants receiving an intervention, but it cannot provide a randomized comparison against an alternative or control condition. Statistical methods cannot recover that missing comparison after the fact. This is a general design limitation, not a claim about the outcome of this particular trial.
The enrollment of 6 makes attention to uncertainty particularly important. In general, estimates from small studies may be sensitive to individual observations, and they provide limited information about less common outcomes. The registry record does not report an endpoint estimate or confidence interval that would permit a direct assessment of precision.
The record also shows why safety counts and efficacy outcomes should be kept distinct. It reports adverse-event categories but no primary behavioral result. Transparent reporting of outcomes, analysis populations, missing-data methods, and uncertainty is necessary for readers to understand what the data can support. Those elements are not reported in the registry record.
14. Limitations
- The posted summary statistics are the only data these results rest on; patient-level data, full protocols and statistical analysis plans are not available.
- Recalculated results are simple, unadjusted calculations from posted summaries. They do not replace the sponsor's prespecified analysis.
The most immediate limitation for interpretation is that the registry record does not report the primary endpoint result. Without an observed score summary or an effect estimate, the behavioral outcome cannot be characterized. The record also does not report baseline endpoint values or clarify whether the primary analysis concerned a final score or change from baseline.
The single-group, open-label design has no concurrent control comparison. As a general matter, that limits separation of intervention-associated outcomes from temporal changes and other influences. The caregiver-report measure also relies on reported observations; the record does not describe masking of outcome assessment, and masking is listed as none.
Enrollment is listed as 6, but the record does not report how many participants completed treatment, contributed primary-endpoint data, or were included in analyses. The analysis population and missing-data procedures are not reported. The statistical analysis plan, sample-size justification, and multiplicity approach are also not reported in the registry record.
The record does not give the growth hormone dose or detailed eligibility criteria beyond the brief summary’s description of children aged 2-12 years who were found eligible. It also does not provide details of the other adverse events. These gaps limit assessment of treatment exposure, endpoint completeness, and the context of the safety counts. They should not be filled by assumptions about what the study may have done.
15. Related Tutorials
16. Related Statistical Calculators
17. Sources
- ClinicalTrials.gov: Growth Hormone Treatment in Children With Phelan McDermid Syndrome — NCT04003207.
- Registry record last updated 2024-05-02; status last verified 2024-04.
- Results first posted 2024-05-02.
- Data retrieved from ClinicalTrials.gov on 2026-11-09.
- Group sizes, means, event counts and sponsor-reported p-values are reproduced as posted. Effect estimates, confidence intervals and p-values not attributed to the sponsor are independently calculated from the posted summary statistics.
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18. Record Summary
The registry describes a completed phase 2, open-label, single-group trial of recombinant human growth hormone in children with Phelan-McDermid syndrome. Enrollment is listed as 6. The brief summary describes daily treatment for 12 weeks among eligible children aged 2-12 years.
The primary endpoint is the ABC Social Withdrawal Subscale after 12 weeks, a caregiver-report score for which higher values indicate more aberrant behavior. The registry record does not report the observed primary-endpoint result or outcome analyses. It lists 0 participants with serious adverse events, 6 with other adverse events, and 0 deaths. Statistical analysis methods, analysis populations, and missing-data handling are not reported.