Trial Outcomes & Findings for Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity (NCT NCT04966741)
NCT ID: NCT04966741
Last Updated: 2024-11-27
Results Overview
A "responder" was defined as a decrease from baseline to 52 weeks in the participant's BMI z-score of ≥0.2. BMI was calculated using participant's weight and height assessments, using the following formula: BMI = kg/m\^2. The BMI Z-scores were based on the World Health Organization's Child Growth Standards 2007 and indicated the number of standard deviations away from the mean. A Z-score of 0 was equal to the mean of a reference population (i.e., healthy, age and sex-matched individuals). A decrease of BMI Z-score (\< 0) indicated a reduction in BMI from Baseline whereas an increase of BMI-Z score (\> 0) indicated an increase in BMI from Baseline. Baseline was defined as the most recent measurement prior to the first administration of study drug.
Recruitment status
COMPLETED
Study phase
PHASE3
Target enrollment
12 participants
Primary outcome timeframe
Baseline up to Week 52
Results posted on
2024-11-27
Participant Flow
Of the 13 participants screened, 12 participants were enrolled in the study.
Participant milestones
| Measure |
Setmelanotide: PPL Group
Participants with pro-opiomelanocortin (POMC)/proprotein convertase subtilisin/kexin type 1 (PCSK1)/leptin receptor (LEPR) biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 milligrams (mg) per day (QD) via subcutaneous (SC) injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight. Following the last dose in this study, participants who were considered likely to benefit from continued setmelanotide treatment and who had completed this trial could be eligible to enter an open-label long-term extension (LTE) trial with setmelanotide.
|
Setmelanotide: BBS Group
Participants with Bardet-Biedl syndrome (BBS) received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight. Following the last dose in this study, participants who were considered likely to benefit from continued setmelanotide treatment and who had completed this trial could be eligible to enter an open-label LTE trial with setmelanotide.
|
|---|---|---|
|
Overall Study
STARTED
|
7
|
5
|
|
Overall Study
COMPLETED
|
6
|
5
|
|
Overall Study
NOT COMPLETED
|
1
|
0
|
Reasons for withdrawal
| Measure |
Setmelanotide: PPL Group
Participants with pro-opiomelanocortin (POMC)/proprotein convertase subtilisin/kexin type 1 (PCSK1)/leptin receptor (LEPR) biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 milligrams (mg) per day (QD) via subcutaneous (SC) injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight. Following the last dose in this study, participants who were considered likely to benefit from continued setmelanotide treatment and who had completed this trial could be eligible to enter an open-label long-term extension (LTE) trial with setmelanotide.
|
Setmelanotide: BBS Group
Participants with Bardet-Biedl syndrome (BBS) received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight. Following the last dose in this study, participants who were considered likely to benefit from continued setmelanotide treatment and who had completed this trial could be eligible to enter an open-label LTE trial with setmelanotide.
|
|---|---|---|
|
Overall Study
Lost to Follow-up
|
1
|
0
|
Baseline Characteristics
Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
Baseline characteristics by cohort
| Measure |
Setmelanotide: PPL Group
n=7 Participants
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight. Following the last dose in this study, participants who were considered likely to benefit from continued setmelanotide treatment and who had completed this trial could be eligible to enter an open-label long-term extension (LTE) trial with setmelanotide.
|
Setmelanotide: BBS Group
n=5 Participants
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight. Following the last dose in this study, participants who were considered likely to benefit from continued setmelanotide treatment and who had completed this trial could be eligible to enter an open-label LTE trial with setmelanotide.
|
Total
n=12 Participants
Total of all reporting groups
|
|---|---|---|---|
|
Age, Continuous
|
3.4 years
STANDARD_DEVIATION 0.53 • n=99 Participants
|
3.8 years
STANDARD_DEVIATION 1.30 • n=107 Participants
|
3.6 years
STANDARD_DEVIATION 0.90 • n=206 Participants
|
|
Sex: Female, Male
Female
|
2 Participants
n=99 Participants
|
3 Participants
n=107 Participants
|
5 Participants
n=206 Participants
|
|
Sex: Female, Male
Male
|
5 Participants
n=99 Participants
|
2 Participants
n=107 Participants
|
7 Participants
n=206 Participants
|
|
Ethnicity (NIH/OMB)
Hispanic or Latino
|
1 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
1 Participants
n=206 Participants
|
|
Ethnicity (NIH/OMB)
Not Hispanic or Latino
|
4 Participants
n=99 Participants
|
5 Participants
n=107 Participants
|
9 Participants
n=206 Participants
|
|
Ethnicity (NIH/OMB)
Unknown or Not Reported
|
2 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
2 Participants
n=206 Participants
|
|
Race/Ethnicity, Customized
Race · American Indian or Alaska Native
|
0 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
0 Participants
n=206 Participants
|
|
Race/Ethnicity, Customized
Race · Asian
|
0 Participants
n=99 Participants
|
1 Participants
n=107 Participants
|
1 Participants
n=206 Participants
|
|
Race/Ethnicity, Customized
Race · White
|
3 Participants
n=99 Participants
|
4 Participants
n=107 Participants
|
7 Participants
n=206 Participants
|
|
Race/Ethnicity, Customized
Race · Other
|
2 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
2 Participants
n=206 Participants
|
|
Race/Ethnicity, Customized
Race · Unknown or Not Reported
|
2 Participants
n=99 Participants
|
0 Participants
n=107 Participants
|
2 Participants
n=206 Participants
|
|
Body Mass Index (BMI) Z-score
|
10.749 z-score
STANDARD_DEVIATION 3.8400 • n=99 Participants
|
4.233 z-score
STANDARD_DEVIATION 1.0742 • n=107 Participants
|
8.034 z-score
STANDARD_DEVIATION 4.4408 • n=206 Participants
|
|
BMI
|
34.347 kg/m^2
STANDARD_DEVIATION 7.0673 • n=99 Participants
|
23.716 kg/m^2
STANDARD_DEVIATION 3.5184 • n=107 Participants
|
29.918 kg/m^2
STANDARD_DEVIATION 7.8559 • n=206 Participants
|
PRIMARY outcome
Timeframe: Baseline up to Week 52Population: The safety analysis set included all participants who received at least 1 dose of study drug.
A "responder" was defined as a decrease from baseline to 52 weeks in the participant's BMI z-score of ≥0.2. BMI was calculated using participant's weight and height assessments, using the following formula: BMI = kg/m\^2. The BMI Z-scores were based on the World Health Organization's Child Growth Standards 2007 and indicated the number of standard deviations away from the mean. A Z-score of 0 was equal to the mean of a reference population (i.e., healthy, age and sex-matched individuals). A decrease of BMI Z-score (\< 0) indicated a reduction in BMI from Baseline whereas an increase of BMI-Z score (\> 0) indicated an increase in BMI from Baseline. Baseline was defined as the most recent measurement prior to the first administration of study drug.
Outcome measures
| Measure |
Setmelanotide: PPL Group
n=7 Participants
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
Setmelanotide: BBS Group
n=5 Participants
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
|---|---|---|
|
Percentage of Participants With Greater Than or Equal to (≥) 0.2 Reduction of BMI Z-Score From Baseline to Week 52
|
85.7 percentage of participants
Interval 54.1 to 100.0
|
80.0 percentage of participants
Interval 28.4 to 99.5
|
PRIMARY outcome
Timeframe: Baseline, Week 52Population: Participants in the Safety Analysis Set with available data were analyzed.
Mean percent change from baseline to Week 52 in BMI was reported. BMI was calculated using participant's weight and height assessments, using the following formula: BMI = kg/m\^2. Baseline was defined as the most recent measurement prior to the first administration of study drug.
Outcome measures
| Measure |
Setmelanotide: PPL Group
n=6 Participants
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
Setmelanotide: BBS Group
n=5 Participants
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
|---|---|---|
|
Mean Percent Change From Baseline in BMI
|
-25.597 percent change
Standard Deviation 11.4911
|
-9.719 percent change
Standard Deviation 8.8383
|
SECONDARY outcome
Timeframe: Baseline, Week 52Population: Participants in the Safety Analysis Set with available data were analyzed.
Mean absolute change from baseline to Week 52 in BMI Z-score was reported. BMI was calculated using participant's weight and height assessments, using the following formula: BMI = kg/m\^2. The BMI Z-scores were based on the World Health Organization's Child Growth Standards 2007 and indicated the number of standard deviations away from the mean. A Z-score of 0 was equal to the mean of a reference population (i.e., healthy, age and sex-matched individuals). A decrease of BMI Z-score (\< 0) indicated a reduction in BMI from Baseline whereas an increase of BMI-Z score (\> 0) indicated an increase in BMI from Baseline. Baseline was defined as the most recent measurement prior to the first administration of study drug.
Outcome measures
| Measure |
Setmelanotide: PPL Group
n=6 Participants
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
Setmelanotide: BBS Group
n=5 Participants
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
|---|---|---|
|
Mean Absolute Change From Baseline in BMI Z-score
|
-5.185 Z-score
Standard Deviation 1.8585
|
-1.331 Z-score
Standard Deviation 1.2295
|
SECONDARY outcome
Timeframe: Baseline, Week 52Population: Participants in the Safety Analysis Set with available data were analyzed.
Mean change from baseline to Week 52 in percent of the 95th percentile of BMI was reported. BMI was calculated using participant's weight and height assessments, using the following formula: BMI = kg/m\^2. BMI Percentile-scores are measures of relative weight adjusted for child age and gender. The percent of the BMI 95th percentile score expresses the participant's BMI as a percentage of the Centers for Disease Control (CDC) 95th percentile reference population. Baseline was defined as the most recent measurement prior to the first administration of study drug.
Outcome measures
| Measure |
Setmelanotide: PPL Group
n=6 Participants
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
Setmelanotide: BBS Group
n=5 Participants
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
|---|---|---|
|
Mean Change From Baseline in Percent of the 95th Percentile of BMI
|
-47.595 percentage relative to 95th percentile
Standard Deviation 17.3280
|
-14.462 percentage relative to 95th percentile
Standard Deviation 13.8571
|
SECONDARY outcome
Timeframe: Baseline, Week 52Population: Participants in the Safety Analysis Set with available data were analyzed.
Mean change from baseline to Week 52 in bone age was reported. A standard bone age measurement (of the hand/wrist area) was obtained at the beginning and the end of the trial to monitor for growth related safety concerns. Baseline was defined as the most recent measurement prior to the first administration of study drug.
Outcome measures
| Measure |
Setmelanotide: PPL Group
n=5 Participants
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
Setmelanotide: BBS Group
n=5 Participants
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
|---|---|---|
|
Mean Change From Baseline in Bone Age
|
1.020 years
Standard Deviation 1.0733
|
0.700 years
Standard Deviation 0.8367
|
SECONDARY outcome
Timeframe: From Baseline to Week 52Population: Participants in the Safety Analysis Set with available data were analyzed.
ASQ-3: developmental screening questionnaire that consists of 5 areas: communication, gross motor, fine motor, problem solving, and personal-social. Each area has 6 questions scored as Yes=10 points, Sometimes=5 points, and Not yet=0 points. A child can score between 0-60 points for each area with total score range: 0 to 300; higher scores are indicative of improvement. Total area score is then compared to age-adjusted standardized score cutoff (determined by developers of tool) which indicate whether child's development appears to be on schedule according to these categories: Below=Total analysis score (TAS) is below cutoff. Further assessment with professional may be needed; Monitor=TAS is close to cutoff. Provide learning activities and monitor; Above= TAS is above cutoff, and child's development appears to be on schedule. Shift from baseline for each developmental area of assessment according to these 3 outcome categories was reported. Total score was not applicable.
Outcome measures
| Measure |
Setmelanotide: PPL Group
n=6 Participants
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
Setmelanotide: BBS Group
n=5 Participants
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
|---|---|---|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Communication · Baseline (Above): Week 52 (Above)
|
5 Participants
|
2 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Communication · Baseline (Above): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Communication · Baseline (Above): Week 52 (Below)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Communication · Baseline (Monitor): Week 52 (Above)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Communication · Baseline (Monitor): Week 52 (Monitor)
|
0 Participants
|
1 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Communication · Baseline (Monitor): Week 52 (Below)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Communication · Baseline (Below): Week 52 (Above)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Communication · Baseline (Below): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Communication · Baseline (Below): Week 52 (Below)
|
1 Participants
|
2 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Fine Motor · Baseline (Above): Week 52 (Above)
|
4 Participants
|
2 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Fine Motor · Baseline (Above): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Fine Motor · Baseline (Above): Week 52 (Below)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Fine Motor · Baseline (Monitor): Week 52 (Above)
|
0 Participants
|
1 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Fine Motor · Baseline (Monitor): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Fine Motor · Baseline (Monitor): Week 52 (Below)
|
1 Participants
|
1 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Fine Motor · Baseline (Below): Week 52 (Above)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Fine Motor · Baseline (Below): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Fine Motor · Baseline (Below): Week 52 (Below)
|
1 Participants
|
1 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Gross Motor · Baseline (Above): Week 52 (Above)
|
1 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Gross Motor · Baseline (Above): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Gross Motor · Baseline (Above): Week 52 (Below)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Gross Motor · Baseline (Monitor): Week 52 (Above)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Gross Motor · Baseline (Monitor): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Gross Motor · Baseline (Monitor): Week 52 (Below)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Gross Motor · Baseline (Below): Week 52 (Above)
|
3 Participants
|
1 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Gross Motor · Baseline (Below): Week 52 (Monitor)
|
0 Participants
|
2 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Gross Motor · Baseline (Below): Week 52 (Below)
|
2 Participants
|
2 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Personal - Social · Baseline (Above): Week 52 (Above)
|
3 Participants
|
2 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Personal - Social · Baseline (Above): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Personal - Social · Baseline (Above): Week 52 (Below)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Personal - Social · Baseline (Monitor): Week 52 (Above)
|
2 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Personal - Social · Baseline (Monitor): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Personal - Social · Baseline (Monitor): Week 52 (Below)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Personal - Social · Baseline (Below): Week 52 (Above)
|
1 Participants
|
1 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Personal - Social · Baseline (Below): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Personal - Social · Baseline (Below): Week 52 (Below)
|
0 Participants
|
2 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Problem Solving · Baseline (Above): Week 52 (Above)
|
4 Participants
|
3 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Problem Solving · Baseline (Above): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Problem Solving · Baseline (Above): Week 52 (Below)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Problem Solving · Baseline (Monitor): Week 52 (Above)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Problem Solving · Baseline (Monitor): Week 52 (Monitor)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Problem Solving · Baseline (Monitor): Week 52 (Below)
|
0 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Problem Solving · Baseline (Below): Week 52 (Above)
|
1 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Problem Solving · Baseline (Below): Week 52 (Monitor)
|
1 Participants
|
0 Participants
|
|
Number of Participants With Shift From Baseline in Ages & Stages Questionnaires, Third Edition (ASQ-3)
Problem Solving · Baseline (Below): Week 52 (Below)
|
0 Participants
|
2 Participants
|
SECONDARY outcome
Timeframe: Baseline, Week 52Population: Participants in the Safety Analysis Set with available data were analyzed.
Change from baseline to Week 52 in body weight was reported.
Outcome measures
| Measure |
Setmelanotide: PPL Group
n=6 Participants
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
Setmelanotide: BBS Group
n=5 Participants
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
|---|---|---|
|
Change From Baseline in Body Weight
|
-7.139 kilograms
Standard Deviation 5.0834
|
-0.327 kilograms
Standard Deviation 2.9572
|
SECONDARY outcome
Timeframe: From first dose of study drug up to Week 56Population: Participants in the Safety Analysis Set were analyzed.
An adverse event (AE) was any untoward medical occurrence in a clinical study participant, temporally associated with the use of a study intervention, whether or not considered related to the study intervention. A TEAE was defined as any AE that started or worsened in intensity on or after the date of the first administration of study drug.
Outcome measures
| Measure |
Setmelanotide: PPL Group
n=7 Participants
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
Setmelanotide: BBS Group
n=5 Participants
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
|---|---|---|
|
Number of Participants With Treatment-emergent Adverse Events (TEAEs)
|
7 Participants
|
5 Participants
|
SECONDARY outcome
Timeframe: From first dose of study drug up to Week 56Population: Participants in the Safety Analysis Set were analyzed.
A TEAE was any untoward medical occurrence in a clinical study participant, temporally associated with the use of a study intervention, whether or not considered related to the study intervention. A TEAE was defined as any AE that started or worsened in intensity on or after the date of the first administration of study drug. TEAEs were graded according to Common Terminology Criteria for Adverse Events (CTCAE) criteria. Grade 1- Mild; Grade 2- Moderate; Grade 3- Severe; Grade 4- Life Threatening; Grade 5- Death related to AE.
Outcome measures
| Measure |
Setmelanotide: PPL Group
n=7 Participants
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred to as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
Setmelanotide: BBS Group
n=5 Participants
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight.
|
|---|---|---|
|
Number of Participants With TEAEs Graded by Severity
Mild
|
2 Participants
|
5 Participants
|
|
Number of Participants With TEAEs Graded by Severity
Moderate
|
5 Participants
|
0 Participants
|
|
Number of Participants With TEAEs Graded by Severity
Severe
|
0 Participants
|
0 Participants
|
|
Number of Participants With TEAEs Graded by Severity
Life Threatening
|
0 Participants
|
0 Participants
|
|
Number of Participants With TEAEs Graded by Severity
Death
|
0 Participants
|
0 Participants
|
Adverse Events
Setmelanotide: PPL Group
Serious events: 0 serious events
Other events: 7 other events
Deaths: 0 deaths
Setmelanotide: BBS Group
Serious events: 0 serious events
Other events: 5 other events
Deaths: 0 deaths
Serious adverse events
Adverse event data not reported
Other adverse events
| Measure |
Setmelanotide: PPL Group
n=7 participants at risk
Participants with POMC/PCSK1/LEPR biallelic mutations collectively referred as PPL received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight. Following the last dose in this study, participants who were considered likely to benefit from continued setmelanotide treatment and who had completed this trial could be eligible to enter an open-label long-term extension (LTE) trial with setmelanotide.
|
Setmelanotide: BBS Group
n=5 participants at risk
Participants with BBS received setmelanotide at a dose of 0.5 mg QD via SC injection for 52 weeks. The dose was escalated by increments of 0.5 mg every 2 weeks, if tolerated, at the dose escalation visits (Weeks 2, 4, and 6) to a maximum dose of 0.5 to 2.0 mg QD with the maximum dose based on body weight. Following the last dose in this study, participants who were considered likely to benefit from continued setmelanotide treatment and who had completed this trial could be eligible to enter an open-label LTE trial with setmelanotide.
|
|---|---|---|
|
Infections and infestations
Nasopharyngitis
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
60.0%
3/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Infections and infestations
Upper respiratory tract infection
|
57.1%
4/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
0.00%
0/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Infections and infestations
COVID-19
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
0.00%
0/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Infections and infestations
Influenza
|
0.00%
0/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
40.0%
2/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Infections and infestations
Otitis media
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
0.00%
0/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Infections and infestations
Pharyngitis streptococcal
|
14.3%
1/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
20.0%
1/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Infections and infestations
Skin candida
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
0.00%
0/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Skin and subcutaneous tissue disorders
Skin hyperpigmentation
|
71.4%
5/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
80.0%
4/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Skin and subcutaneous tissue disorders
Dermatitis
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
0.00%
0/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
General disorders
Injection site bruising
|
14.3%
1/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
60.0%
3/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
General disorders
Injection site pruritus
|
14.3%
1/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
60.0%
3/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
General disorders
Pyrexia
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
40.0%
2/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
General disorders
Injection site discoloration
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
20.0%
1/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
General disorders
Fatigue
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
0.00%
0/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
General disorders
Injection site erythema
|
0.00%
0/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
40.0%
2/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Gastrointestinal disorders
Vomiting
|
57.1%
4/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
60.0%
3/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Gastrointestinal disorders
Abdominal pain
|
14.3%
1/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
20.0%
1/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Gastrointestinal disorders
Diarrhoea
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
0.00%
0/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Injury, poisoning and procedural complications
Fall
|
57.1%
4/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
0.00%
0/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Injury, poisoning and procedural complications
Skin abrasion
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
0.00%
0/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Respiratory, thoracic and mediastinal disorders
Cough
|
14.3%
1/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
40.0%
2/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Respiratory, thoracic and mediastinal disorders
Rhinorrhoea
|
28.6%
2/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
0.00%
0/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Metabolism and nutrition disorders
Appetite disorder
|
14.3%
1/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
20.0%
1/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Metabolism and nutrition disorders
Polydipsia
|
14.3%
1/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
20.0%
1/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Neoplasms benign, malignant and unspecified (incl cysts and polyps)
Melanocytic naevus
|
42.9%
3/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
20.0%
1/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
|
Ear and labyrinth disorders
Ear pain
|
14.3%
1/7 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
20.0%
1/5 • From first dose of study drug up to Week 56
The safety analysis set included all participants who received at least 1 dose of study drug.
|
Additional Information
Results disclosure agreements
- Principal investigator is a sponsor employee All information regarding setmelanotide supplied by Rhythm to the investigator is privileged and confidential information. The investigator agrees to use this information to accomplish the study and will not use it for other purposes without consent from Rhythm. The information obtained from the clinical study will be used towards the development of setmelanotide and may be disclosed to regulatory authority(ies), other investigators, corporate partners, or consultants as required.
- Publication restrictions are in place
Restriction type: OTHER