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Setmelanotide in Pediatric Patients With Rare Genetic Diseases of Obesity

Primary Purpose

Bardet-Biedl Syndrome, POMC Deficiency Obesity, PCSK1 Deficiency Obesity

Status

Completed

Phase

Phase 3

Locations

International

Study Type

Interventional

Intervention

Setmelanotide

About this trial

This is an interventional treatment trial for Bardet-Biedl Syndrome focused on measuring Bardet Biedl Syndrome, POMC Deficiency, PCSK1, LEPR, Obesity, Pediatric Obesity

Eligibility Criteria

2 Years - 5 Years (Child)All SexesDoes not accept healthy volunteers

Key Inclusion Criteria:

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
Age between 2 to <6 years at the time of informed consent
Obesity, defined as BMI ≥97th percentile for age and gender AND body weight of at least 15 kg at the time of enrollment.
Symptoms or behaviors of hyperphagia
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 Exclusion Criteria

HbA1c >9.0% at screening
History of significant liver disease
Glomerular filtration rate (GFR) <60 mL/min/1.73 m2
History or close family history of melanoma, or patient history of oculocutaneous albinism.
Significant dermatologic findings relating to melanoma or pre-melanoma skin lesions (excluding non-invasive basal or squamous cell lesion)
Participation in any clinical study with an investigational drug/device within 3 months prior to the first day of dosing.
Previously enrolled in a clinical study involving setmelanotide or any previous exposure to setmelanotide.
Significant hypersensitivity to any excipient in the study drug.
Inadequate hepatic function
Any other uncontrolled endocrine, metabolic or medical condition(s) known to impact body weight

Other protocol defined Inclusion/Exclusion criteria may apply.

Sites / Locations

Children's Hospital Colorado
Columbia University Medical Center, Division of Pediatric Endocrinology, Diabetes and Metabolism
Marshfield Clinic Research Foundation
Sydney Children's Hospital
Hospital Infantil Niño Jesus
Addenbrooke's Hospital, Wellcome Trust-MRC Institute of Metabolic Science

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Setmelanotide

Arm Description

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

Outcomes

Primary Outcome Measures

Proportion of patients demonstrating >0.2 decrease from baseline in body weight

To evaluate the effect of setmelanotide on weight-related parameters by using measurement of decrease in body weight

Mean percent change in BMI

To evaluate the effect of setmelanotide on weight-related parameters by using the Body Mass Index measurement

Secondary Outcome Measures

Mean absolute change from baseline in BMI Z-score

Mean absolute change from baseline in BMI Z-score by age and gender

Mean change in percent of the 95th percentile of BMI

Mean change in percent of the 95th percentile of BMI by age and gender

Mean change in bone age

Mean change in Ages & Stages Questionnaires (ASQ®-3)

Mean change in Ages & Stages Questionnaires score (ASQ®-3)

Full Information

NCT ID

NCT04966741

First Posted

March 29, 2021

Last Updated

October 2, 2023

Sponsor

Rhythm Pharmaceuticals, Inc.

1. Study Identification

Unique Protocol Identification Number

NCT04966741

Brief Title

Setmelanotide in Pediatric Patients With Rare Genetic Diseases of Obesity

Official 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

Study Type

Interventional

2. Study Status

Record Verification Date

October 2023

Overall Recruitment Status

Completed

Study Start Date

February 16, 2022 (Actual)

Primary Completion Date

September 19, 2023 (Actual)

Study Completion Date

September 19, 2023 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

Rhythm Pharmaceuticals, Inc.

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Yes

Studies a U.S. FDA-regulated Device Product

5. Study Description

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).

Detailed Description

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) will be enrolled into this phase 3 open-label clinical trial at one of approximately 8 clinical centers in North America, Europe, or Australia. All patients will be assigned to receive setmelanotide via daily subcutaneous injection for 1 year.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Bardet-Biedl Syndrome, POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity

Keywords

Bardet Biedl Syndrome, POMC Deficiency, PCSK1, LEPR, Obesity, Pediatric Obesity

7. Study Design

Primary Purpose

Treatment

Study Phase

Phase 3

Interventional Study Model

Single Group Assignment

Masking

None (Open Label)

Allocation

N/A

Enrollment

12 (Actual)

8. Arms, Groups, and Interventions

Arm Title

Setmelanotide

Arm Type

Experimental

Arm Description

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

Intervention Type

Drug

Intervention Name(s)

Setmelanotide

Other Intervention Name(s)

IMCIVREE

Intervention Description

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.

Primary Outcome Measure Information:

Title

Proportion of patients demonstrating >0.2 decrease from baseline in body weight

Description

To evaluate the effect of setmelanotide on weight-related parameters by using measurement of decrease in body weight

Time Frame

Baseline to Week 52

Title

Mean percent change in BMI

Description

To evaluate the effect of setmelanotide on weight-related parameters by using the Body Mass Index measurement

Time Frame

Baseline to Week 52

Secondary Outcome Measure Information:

Title

Mean absolute change from baseline in BMI Z-score

Description

Mean absolute change from baseline in BMI Z-score by age and gender

Time Frame

Baseline to Week 52

Title

Mean change in percent of the 95th percentile of BMI

Description

Mean change in percent of the 95th percentile of BMI by age and gender

Time Frame

Baseline to Week 52

Title

Mean change in bone age

Description

Mean change in bone age

Time Frame

Baseline to Week 52

Title

Mean change in Ages & Stages Questionnaires (ASQ®-3)

Description

Mean change in Ages & Stages Questionnaires score (ASQ®-3)

Time Frame

Baseline to Week 52

10. Eligibility

Sex

All

Minimum Age & Unit of Time

2 Years

Maximum Age & Unit of Time

5 Years

Accepts Healthy Volunteers

Eligibility Criteria

Key Inclusion Criteria: Patients must have obesity due to either: 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 BBS confirmed clinical and genetic diagnosis Age between 2 to <6 years at the time of informed consent Obesity, defined as BMI ≥97th percentile for age and gender AND body weight of at least 15 kg at the time of enrollment. Symptoms or behaviors of hyperphagia 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 Exclusion Criteria HbA1c >9.0% at screening History of significant liver disease Glomerular filtration rate (GFR) <60 mL/min/1.73 m2 History or close family history of melanoma, or patient history of oculocutaneous albinism. Significant dermatologic findings relating to melanoma or pre-melanoma skin lesions (excluding non-invasive basal or squamous cell lesion) Participation in any clinical study with an investigational drug/device within 3 months prior to the first day of dosing. Previously enrolled in a clinical study involving setmelanotide or any previous exposure to setmelanotide. Significant hypersensitivity to any excipient in the study drug. Inadequate hepatic function Any other uncontrolled endocrine, metabolic or medical condition(s) known to impact body weight Other protocol defined Inclusion/Exclusion criteria may apply.

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

David Meeker, MD

Organizational Affiliation

Rhythm Pharmaceuticals, Inc.

Official's Role

Study Chair

Facility Information:

Facility Name

Children's Hospital Colorado

City

Aurora

State/Province

Colorado

ZIP/Postal Code

80045

Country

United States

Facility Name

Columbia University Medical Center, Division of Pediatric Endocrinology, Diabetes and Metabolism

City

New York

State/Province

New York

ZIP/Postal Code

10032

Country

United States

Facility Name

Marshfield Clinic Research Foundation

City

Marshfield

State/Province

Wisconsin

ZIP/Postal Code

54449

Country

United States

Facility Name

Sydney Children's Hospital

City

Randwick

ZIP/Postal Code

NSW 2031

Country

Australia

Facility Name

Hospital Infantil Niño Jesus

City

Madrid

ZIP/Postal Code

28009

Country

Spain

Facility Name

Addenbrooke's Hospital, Wellcome Trust-MRC Institute of Metabolic Science

City

Cambridge

ZIP/Postal Code

CB2 0QQ

Country

United Kingdom

12. IPD Sharing Statement

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Setmelanotide in Pediatric Patients With Rare Genetic Diseases of Obesity

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