A study to investigate treatment of Setmelanotide in children from 2 to 6 years old that have a form of genetic obesity

A Phase 3 Multi-Center, One-Year, Open-Label study of Setmelanotide in Pediatric Patients Aged 2 to <6 years of age with Rare Genetic Causes of Obesity

Status

Active, not recruiting

Phases

Phase 3

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2021-004167-27-NL

Enrollment

Registered

2021-10-05

Start date

2022-03-02

Completion date

Unknown

Last updated

2024-05-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

POMC deficiency obesity due to mutations in the POMC gene PCSK1 deficiency due to mutations in the PCSK1 gene LEPR deficiency obesity due to mutations in the LEPR gene Bardet-Biedl syndrome MedDRA version: 23.0 Level: PT Classification code 10084105 Term: Leptin receptor deficiency System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 23.0 Level: PT Classification code 10083937 Term: Pro-opiomelanocortin deficiency System Organ Class: 10010331 - Congenital,

Interventions

Trade Name: Imcivree Product Name: setmelanotide Product Code: RM-493 Pharmaceutical Form: Solution for injection INN or Proposed INN: Setmelanotide CAS Number: 920014-72-8 Current Sponsor code: RM-49

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. Patients must have obesity due to either: a. POMC, PCSK1, or LEPR deficiency, confirmed by genetic testing demonstrating biallelic variants that are interpreted as pathogenic, likely pathogenic, or of undetermined significance (VUS) by the American College of Medical Genetics and Genomics (ACMG) criteria, or b. BBS as defined by both (1) the Beales Criteria, 1999 (Beales 1999 [Appendix 16.1]) AND (2) genetic confirmation of homozygous or compound heterozygous loss-of-function mutation in BBS genes. 2. Age between 2 to =65 years) no F.1.3.1 Number of subjects for this age range

Exclusion criteria

Exclusion criteria: 1. HbA1c >9.0% at screening 2. History of significant liver disease other than non-alcoholic fatty liver disease (NAFLD) or nonalcoholic steatohepatitis (NASH). 3. Glomerular filtration rate (GFR) 5x Upper limit of normal (ULN).

Design outcomes

Primary

Measure	Time frame
Main Objective: To evaluate the effect of setmelanotide on weight in pediatric patients aged 2 to <6 years with obesity due to either (1) biallelic variants of the POMC, PCSK1 or LEPR genes or (2) Bardet-Biedl Syndrome (BBS) by determining if they meet a “responder” definition for change in body weight.;Secondary Objective: Secondary: To evaluate the effect of setmelanotide on weight in pediatric patients aged 2 to <6 years with obesity due to either (1) biallelic variants of the POMC, PCSK1 or LEPR genes or (2) BBS using additional measures of changes in body weight. To evaluate the safety and tolerability of setmelanotide in pediatric patients aged 2 to <6 years with obesity due to either (1) biallelic variants of the POMC, PCSK1 or LEPR genes or (2) BBS. Exploratory: To evaluate the effect of setmelanotide on (1) metabolic parameters, (2) waist circumference, (3) pharmacokinetics and (4) quality of life and care taker burden in pediatric patients between the ages of 2 to <6 years old with obesity due to either (1) biallelic variants of the POMC, PCSK1 or LEPR genes or (2) BBS.;Primary end point(s): The response rate to setmelanotide, with a “responder” defined as a decrease from baseline in the patient’s BMI z-score of =0.2.;Timepoint(s) of evaluation of this end point: Patient age, height and weight will be recorded at each patient visit starting screening, enrollment, week 2, 4, 6, 8, 12, 16, 20, 28, 36, 44 and 52.	—

Measure

Time frame

Main Objective: To evaluate the effect of setmelanotide on weight in pediatric patients aged 2 to <6 years with obesity due to either (1) biallelic variants of the POMC, PCSK1 or LEPR genes or (2) Bardet-Biedl Syndrome (BBS) by determining if they meet a “responder” definition for change in body weight.;Secondary Objective: Secondary: To evaluate the effect of setmelanotide on weight in pediatric patients aged 2 to <6 years with obesity due to either (1) biallelic variants of the POMC, PCSK1 or LEPR genes or (2) BBS using additional measures of changes in body weight. To evaluate the safety and tolerability of setmelanotide in pediatric patients aged 2 to <6 years with obesity due to either (1) biallelic variants of the POMC, PCSK1 or LEPR genes or (2) BBS. Exploratory: To evaluate the effect of setmelanotide on (1) metabolic parameters, (2) waist circumference, (3) pharmacokinetics and (4) quality of life and care taker burden in pediatric patients between the ages of 2 to <6 years old with obesity due to either (1) biallelic variants of the POMC, PCSK1 or LEPR genes or (2) BBS.;Primary end point(s): The response rate to setmelanotide, with a “responder” defined as a decrease from baseline in the patient’s BMI z-score of =0.2.;Timepoint(s) of evaluation of this end point: Patient age, height and weight will be recorded at each patient visit starting screening, enrollment, week 2, 4, 6, 8, 12, 16, 20, 28, 36, 44 and 52.

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Secondary

Measure	Time frame
Secondary end point(s): Secondary: The change in percent of the 95th percentile of body mass index (BMI), the actual and percent change in weight and the change in BMI and change in BMI-z score from baseline to the end of study will be summarized. Frequency and severity of AEs, vital signs, and change from baseline in bone age, Ages & Stages Questionnaires, Third Edition (ASQ®-3) and laboratory evaluations. Exploratory: The change from baseline in metabolic parameters (as measured by the fasting lipid profile and change in hemoglobin A1c), change in waist circumference from baseline, pharmacokinetic parameters, and change in caregiver burden (as measured by the Zarit Burden Interview instrument) and quality of life (as measured by the Work Productivity and Activity Impairment, PROMIS Global Health - Parent Proxy and Caregivers instruments) will be summarized.;Timepoint(s) of evaluation of this end point: End points are assessed from baseline to end of treatment.	—

Measure

Time frame

Secondary end point(s): Secondary: The change in percent of the 95th percentile of body mass index (BMI), the actual and percent change in weight and the change in BMI and change in BMI-z score from baseline to the end of study will be summarized. Frequency and severity of AEs, vital signs, and change from baseline in bone age, Ages & Stages Questionnaires, Third Edition (ASQ®-3) and laboratory evaluations. Exploratory: The change from baseline in metabolic parameters (as measured by the fasting lipid profile and change in hemoglobin A1c), change in waist circumference from baseline, pharmacokinetic parameters, and change in caregiver burden (as measured by the Zarit Burden Interview instrument) and quality of life (as measured by the Work Productivity and Activity Impairment, PROMIS Global Health - Parent Proxy and Caregivers instruments) will be summarized.;Timepoint(s) of evaluation of this end point: End points are assessed from baseline to end of treatment.

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Countries

Australia, Netherlands, Spain, United Kingdom, United States

Contacts

Public ContactClinical Trial Associate

Rhythm Pharmaceuticals, Inc.

ccokkinias@rhythmtx.com

Outcome results

None listed

Source: EU CTR (via WHO ICTRP) · Data processed: Feb 4, 2026