Principal Investigator: Dave Viskochil
Keywords: Prader-Willi syndrom , PWS , Destiny , C601 Department: Pediatric Genetics
IRB Number: 00116292
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Recruiting

Contact Information

Sarah  Couchon
sarah.couchon@hsc.utah.edu
8015853822

Brief Summary

Primary Objective: 
The primary objective of this study is to evaluate the effects of diazoxide choline controlled-release (DCCR) tablet compared to placebo on hyperphagia in PWS patients.


Secondary Objective: 
The secondary objectives of this study are to evaluate changes in body fat mass, Clinical Global Impression of Improvement (CGI-I), and Caregiver Global Impression of Change (GI-C) with DCCR compared to placebo in PWS patients.


Additional Objectives: 
Additional objectives of this study are to evaluate the safety of DCCR in PWS patients and to evaluate changes in other body composition parameters, BMI, waist circumference, lipid parameters, patient’s health-related quality of life, caregiver burden, cardiometabolic markers, Clinical Global Impression of Severity, Caregiver Global Impression of Severity, and PWS behaviors (Aggressive Compulsivity, Irritability, and Distorted Thinking domains of the PWS Profile questionnaire) with DCCR treatment compared to placebo in PWS patients.

Inclusion Criteria

1) Provide voluntary, written informed consent (parent(s) / legal guardian(s) of patient); provide voluntary, written assent (patients, as appropriate)

2) Male and female patients 4 years of age and older

3) Genetically-confirmed Prader-Willi syndrome by methylation analysis

4) HQ-CT score ≥ 13

5) In a stable care setting for at least 6 months prior to Visit 1 and throughout the study

6) Caregiver must have been caring for the patient for at least 6 months prior to Visit 1 and will care for the patient throughout the study a minimum of 4 waking hours per day

7) Patient and caregiver agree to continue the patient on his/her current dietary and physical activity regimens throughout the study

8) Patients with a diagnosis of type II diabetes mellitus are adequately managed with antidiabetic medication(s) other than insulin and no recent history of ketoacidosis or hyperosmolar coma (within 6 months prior to Visit 1)

9) On stable regimens of all concomitant chronic medications for at least 3 months prior to Visit 1, except:

• If taking antidiabetic medications, must have been on a stable dose for at least 6 months prior to Visit 1

• Treatment with growth hormone can neither stop nor start throughout the study

10) Successfully complete all screening assessments and procedures

Exclusion Criteria

1) Weight < 30 kg or ≥ 135 kg

2) Have participated in an interventional clinical study (i.e., investigational drug or device, approved drugs or device evaluated for unapproved use) within 3 months prior to Visit 1

3) History of allergic reaction or significant intolerance to:

• Diazoxide

• Thiazides

• Sulfonamides

4) Use within 3 months prior to Visit 1 or anticipated requirement for use at any time during the study of the following prohibited medications:

• Anti-obesity medications or other medications (including herbal preparations, over-the-counter products) or procedures for weight reduction

• Medications, including homeopathy and herbal preparations, that are strong inhibitors or inducers of CYP450 1A2 or 3A4 (Refer to Flockhart Table, http://medicine.iupui.edu/CLINPHARM/ddis/clinical-table)

• Medications known to prolong the QTc interval (Refer to QTDrugs List on https://crediblemeds.org/healthcare-providers/)

• Systemic steroids

• Any drugs medications, herbal preparation, homeopathy, nutraceuticals, or procedures (i.e., acupuncture, vagal stimulation), that may have an effect on any study endpoints

• Use of any investigational drugs or devices

5) Anticipate changes in caregiver, care setting or other similarly potentially disruptive changes during participation in the study

6) Known type 1 diabetes mellitus

7) Uncontrolled hypertension

8) History of thromboembolic events (e.g., venous thrombosis, pulmonary embolism, etc.), concurrent treatment for thromboembolic event(s), and/or signs suggestive of a possible thromboembolic event

9) Known history of thromboembolic events (e.g., venous thrombosis, pulmonary embolism, etc.) in a first-degree relative

10) Grade 3 or 4 peripheral edema at physical examination or history of severe peripheral edema that could not be managed with an oral diuretic

11) Positive urine pregnancy test (in females of child-bearing potential)

12) Females who are pregnant or breastfeeding, and/or plan to become pregnant or to breastfeed during or within 90 days after study participation

13) History of torsades de pointes (TdP), congenital long QT syndrome, bradyarrhythmias, or uncompensated heart failure

14) Diagnosis of psychiatric disease or hospitalization for a psychiatric reason within 6 months prior to Visit 1

15) Cancer within the past 5 years (not applicable to successfully treated basal cell carcinoma and successfully treated in situ cervical cancer) prior to Visit 1

16) Any other 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

17) Primary caregiver cannot read and understand English or communicate with Investigator and study site personnel