Real-World Evidence of Setmelanotide in Patients with Rare Melanocortin-4 Receptor Pathway Diseases: Baseline Findings from the RESTORE Longitudinal Survey Study
Author(s)
Caroline Huber, MPH1, Brooke Sweeney, MD, FAAP, FACP, DABOM2, Andrea M. Haqq, MD, MHS, FRCP(C), FAAP3, Min Yang, MS, PhD, MD4, USHA G. Mallya, MS, PhD5, Su Zhang, PhD6, Jingyi Liu, MBI6, Jeremy Pomeroy, PhD, MS7;
1Rhythm Pharmaceuticals, Boston, MA, USA, 2Children's Mercy, Kansas City, MO, USA, 3University of Alberta, Division of Pediatric Endocrinology, Edmonton, AB, Canada, 4Analysis Group, Inc, Boston, MA, USA, 5Rhythm Pharmaceuticals, Inc., Boston, MA, USA, 6Analysis Group, Inc., Boston, MA, USA, 7Marshfield Clinic Research Institute, Marshfield, WI, USA
1Rhythm Pharmaceuticals, Boston, MA, USA, 2Children's Mercy, Kansas City, MO, USA, 3University of Alberta, Division of Pediatric Endocrinology, Edmonton, AB, Canada, 4Analysis Group, Inc, Boston, MA, USA, 5Rhythm Pharmaceuticals, Inc., Boston, MA, USA, 6Analysis Group, Inc., Boston, MA, USA, 7Marshfield Clinic Research Institute, Marshfield, WI, USA
Presentation Documents
OBJECTIVES: Setmelanotide is approved for weight reduction long-term in patients aged ≥2 years with obesity due to certain rare melanocortin-4 receptor (MC4R) pathway diseases. RESTORE, a prospective, observational, longitudinal survey study, assesses setmelanotide’s real-world effectiveness on hyperphagia, clinical burden, weight management, and quality of life. We report participants’ characteristics at baseline before setmelanotide initiation.
METHODS: Patients prescribed setmelanotide and enrolled in the Rhythm InTune patient support program, and their caregivers, are invited to participate in RESTORE. Participants complete comprehensive electronic surveys at baseline (before treatment) and months 1, 2, 3, 6, 9 and 12 after setmelanotide initiation, including Symptoms of Hyperphagia (SoH, range 0-2) and Impacts of Hyperphagia (IoH, range 0-3) questionnaires. Caregivers complete surveys for patients <12 or who cannot self-report.
RESULTS: By December 2024, 44 participants (female: 68.2%; ages 6-57) with Bardet-Biedl Syndrome (BBS) enrolled in the study. The 33 adult participants (mean age: 39.2±10.2 years) had a mean weight and body mass index (BMI) of 311.5±81.7 lbs and 47.8±9.9, respectively. Among 11 pediatric participants (mean age: 10.8±3.3 years), mean weight and BMI z-score were 204.4±77.5 lbs and 5.1±2.7, respectively. Common self-/caregiver-reported comorbidities included anxiety/depression (61.4%/61.4%), sleep apnea (45.5%), and hypertension (34.1%). Common BBS-related signs/symptoms were hyperphagia (79.5%), ataxia/poor coordination (50.0%), and developmental delay (43.2%). Most participants (86.4%) reported feeling “moderately” or “extremely” hungry over the past 7 days. Among self-reporting participants with hyperphagia (n=25), average SoH was 1.0±0.4, with feeling hungry/asking for more food after a meal and hiding food reported as the most frequent behaviors. Average self-reported IoH was 1.6±0.7, with mood/emotions, social life, and leisure/recreational activities most negatively impacted by hyperphagia.
CONCLUSIONS: RESTORE study baseline data highlight substantial unmet needs in hyperphagia and its impacts, weight management and clinical burden. Findings from follow-up surveys will longitudinally assess the effectiveness of setmelanotide in this patient population.
METHODS: Patients prescribed setmelanotide and enrolled in the Rhythm InTune patient support program, and their caregivers, are invited to participate in RESTORE. Participants complete comprehensive electronic surveys at baseline (before treatment) and months 1, 2, 3, 6, 9 and 12 after setmelanotide initiation, including Symptoms of Hyperphagia (SoH, range 0-2) and Impacts of Hyperphagia (IoH, range 0-3) questionnaires. Caregivers complete surveys for patients <12 or who cannot self-report.
RESULTS: By December 2024, 44 participants (female: 68.2%; ages 6-57) with Bardet-Biedl Syndrome (BBS) enrolled in the study. The 33 adult participants (mean age: 39.2±10.2 years) had a mean weight and body mass index (BMI) of 311.5±81.7 lbs and 47.8±9.9, respectively. Among 11 pediatric participants (mean age: 10.8±3.3 years), mean weight and BMI z-score were 204.4±77.5 lbs and 5.1±2.7, respectively. Common self-/caregiver-reported comorbidities included anxiety/depression (61.4%/61.4%), sleep apnea (45.5%), and hypertension (34.1%). Common BBS-related signs/symptoms were hyperphagia (79.5%), ataxia/poor coordination (50.0%), and developmental delay (43.2%). Most participants (86.4%) reported feeling “moderately” or “extremely” hungry over the past 7 days. Among self-reporting participants with hyperphagia (n=25), average SoH was 1.0±0.4, with feeling hungry/asking for more food after a meal and hiding food reported as the most frequent behaviors. Average self-reported IoH was 1.6±0.7, with mood/emotions, social life, and leisure/recreational activities most negatively impacted by hyperphagia.
CONCLUSIONS: RESTORE study baseline data highlight substantial unmet needs in hyperphagia and its impacts, weight management and clinical burden. Findings from follow-up surveys will longitudinally assess the effectiveness of setmelanotide in this patient population.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
PCR160
Topic
Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, SDC: Rare & Orphan Diseases