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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT04966741




Registration number
NCT04966741
Ethics application status
Date submitted
29/03/2021
Date registered
19/07/2021
Date last updated
4/10/2023

Titles & IDs
Public title
Setmelanotide in Pediatric Patients With Rare Genetic Diseases of Obesity
Scientific title
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
Secondary ID [1] 0 0
RM-493-033
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Bardet-Biedl Syndrome 0 0
POMC Deficiency Obesity 0 0
PCSK1 Deficiency Obesity 0 0
LEPR Deficiency Obesity 0 0
Condition category
Condition code
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders
Neurological 0 0 0 0
Other neurological disorders
Diet and Nutrition 0 0 0 0
Obesity
Metabolic and Endocrine 0 0 0 0
Other metabolic disorders

Intervention/exposure
Study type
Interventional
Description of intervention(s) / exposure
Treatment: Drugs - Setmelanotide

Experimental: Setmelanotide - Investigational product: Setmelanotide,10 mg/mL in a sterile solution for Subcutaneous (SC) injection


Treatment: Drugs: Setmelanotide
All patients will begin treatment at a dose of 0.5 mg of setmelanotide per day. Patients will then increase their dose by 0.5 mg increments, every 2 weeks, until reaching their target maximum dose (not to exceed 2mg daily). The target maximum dose of setmelanotide used in this study will be based on the weight bands.
Intervention code [1] 0 0
Treatment: Drugs
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Proportion of patients demonstrating >0.2 decrease from baseline in body weight
Timepoint [1] 0 0
Baseline to Week 52
Primary outcome [2] 0 0
Mean percent change in BMI
Timepoint [2] 0 0
Baseline to Week 52
Secondary outcome [1] 0 0
Mean absolute change from baseline in BMI Z-score
Timepoint [1] 0 0
Baseline to Week 52
Secondary outcome [2] 0 0
Mean change in percent of the 95th percentile of BMI
Timepoint [2] 0 0
Baseline to Week 52
Secondary outcome [3] 0 0
Mean change in bone age
Timepoint [3] 0 0
Baseline to Week 52
Secondary outcome [4] 0 0
Mean change in Ages & Stages Questionnaires (ASQ®-3)
Timepoint [4] 0 0
Baseline to Week 52

Eligibility
Key inclusion criteria
Key

1. Patients must have obesity due to either:

1. 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 criteria (ACMG), or

2. BBS confirmed clinical and genetic diagnosis

2. Age between 2 to <6 years at the time of informed consent

3. Obesity, defined as BMI =97th percentile for age and gender AND body weight of at
least 15 kg at the time of enrollment.

4. Symptoms or behaviors of hyperphagia

5. Parent or guardian of study participant is able to understand and comply with the
requirements of the study (including once daily [QD] injection regimen and all other
study procedures) and is able to understand and sign the written consent/assent.

Key
Minimum age
2 Years
Maximum age
5 Years
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
Exclusion Criteria

1. HbA1c >9.0% at screening

2. History of significant liver disease

3. Glomerular filtration rate (GFR) <60 mL/min/1.73 m2

4. History or close family history of melanoma, or patient history of oculocutaneous
albinism.

5. Significant dermatologic findings relating to melanoma or pre-melanoma skin lesions
(excluding non-invasive basal or squamous cell lesion)

6. Participation in any clinical study with an investigational drug/device within 3
months prior to the first day of dosing.

7. Previously enrolled in a clinical study involving setmelanotide or any previous
exposure to setmelanotide.

8. Significant hypersensitivity to any excipient in the study drug.

9. Inadequate hepatic function

10. Any other uncontrolled endocrine, metabolic or medical condition(s) known to impact
body weight

Other protocol defined Inclusion/Exclusion criteria may apply.

Study design
Purpose of the study
Treatment
Allocation to intervention
N/A
Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
Methods used to generate the sequence in which subjects will be randomised (sequence generation)
Masking / blinding
Open (masking not used)
Who is / are masked / blinded?



Intervention assignment
Single group
Other design features
Phase
Phase 3
Type of endpoint/s
Statistical methods / analysis

Recruitment
Recruitment status
Completed
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
16/02/2022
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
19/09/2023
Sample size
Target
Accrual to date
Final
12
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
Sydney Children's Hospital - Randwick
Recruitment postcode(s) [1] 0 0
NSW 2031 - Randwick
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Colorado
Country [2] 0 0
United States of America
State/province [2] 0 0
New York
Country [3] 0 0
United States of America
State/province [3] 0 0
Wisconsin
Country [4] 0 0
Spain
State/province [4] 0 0
Madrid
Country [5] 0 0
United Kingdom
State/province [5] 0 0
Cambridge

Funding & Sponsors
Primary sponsor type
Commercial sector/Industry
Name
Rhythm Pharmaceuticals, Inc.
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
This is a phase 3 open-label, one-arm, clinical study to evaluate the efficacy, safety and
tolerability of setmelanotide over 1 year of treatment, in pediatric patients aged 2 to <6
years with obesity due to either biallelic variants of the POMC, PCSK1 or LEPR genes or
Bardet-Biedl Syndrome (BBS).
Trial website
https://clinicaltrials.gov/ct2/show/NCT04966741
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
David Meeker, MD
Address 0 0
Rhythm Pharmaceuticals, Inc.
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT04966741