An Open-Label Study of Diazoxide Choline in Patients With Genetic Obesities

Study Overview
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Brief Summary
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This is a phase 2 open-label, one-arm, clinical study to evaluate the efficacy and safety of DCCR (diazoxide choline) extended-release tablets over 1 year of treatment, in patients with genetic obesities.

Detailed Description
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Patients aged 5 years and older with obesity due to SH2B1 deficiency obesity, obesity associated with PCSK1 mutation (rs6232 variant), or SIM1 deficiency obesity will be enrolled into this phase 2 open-label clinical trial at a single clinical center in North America. All eligible participants will receive DCCR (diazoxide choline) extended-release tablets for 1 year.

Official Title
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An Open-Label Study to Assess the Preliminary Efficacy and Safety of DCCR (Diazoxide Choline) Extended-Release Tablets in Patients With Genetic Obesities

Conditions
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SH2B1 Deficiency Obesity, Obesity Associated With PCSK1 Mutation (rs6232 Variant), SIM1 Deficiency Obesity

Intervention / Treatment
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* Drug: DCCR (diazoxide choline) extended-release tablets


Participation Criteria
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Eligibility Criteria
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Key Inclusion Criteria: Provide voluntary, written informed consent (parent(s) / legal guardian(s) of patient); provide voluntary, written assent (patients, as appropriate) Genetically-confirmed diagnosis of SH2B1 deficiency obesity, obesity associated with PCSK1 mutation (rs6232 variant), or SIM1 deficiency obesity Key Exclusion Criteria: Have participated in an interventional clinical study (i.e., investigational drug or device, approved drugs or device evaluated for unapproved use) within 60 days prior to Screening Any known disease and/or condition, which would prevent, in the opinion of the Investigator, the patient from completing all study visits and assessments required by the protocol Positive urine pregnancy test (in females of child-bearing potential) or females who are pregnant or breastfeeding, and/or plan to become pregnant or to breast-feed during or within 30 days after study participation

Ages Eligible for Study
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Minimum Age: 5 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Open-label DCCR<br>75 - 525 mg DCCR | Drug: DCCR (diazoxide choline) extended-release tablets<br>* All participants will be titrated over a four week period to the maintenance dose. Participants will take DCCR daily for up to 52 weeks.<br>* Other names: DCCR;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Proportion of participants who achieve at least 5% body weight reduction | Proportion of participants who achieve at least 5% body weight reduction | Baseline to Week 26 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Leptin | Change from Baseline in serum leptin | Baseline to Week 26 | 
| Fasting serum insulin | Change in fasting serum insulin | Baseline to Week 26 | 
| Body fat mass | Change in body fat mass (DXA) | Baseline to Week 26 | 
| Feelings of hunger | Change in self-reported feelings of hunger measured on a visual analog scale (VAS), 0 - 100 with 0 being no feelings of hunger and 100 being the most extreme sensation of hunger | Baseline to Week 26 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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SH2B1 deficiency obesity, Obesity associated with PCSK1 mutation, (rs6232 variant), SIM1 deficiency obesity, Genetic obesity