Publications by authors named "U N Mallya"
Objective: Rare genetic diseases of obesity typically present with hyperphagia, a pathologic desire to consume food. Cost-utility models assessing the value of treatments for these rare diseases will require health state utilities representing hyperphagia. This study estimated utilities associated with various hyperphagia severity levels.
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- Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by obesity and uncontrollable hunger (hyperphagia), significantly affecting the lives of caregivers.
- A survey conducted across the US, UK, Canada, and Germany involved 242 caregivers, revealing extensive caregiver burden that impacts their mood, sleep, relationships, and work productivity due to the demands of caring for individuals with BBS.
- Caregivers reported high personal and family strain along with substantial financial costs, indicating the need for more effective weight management strategies and support resources for those affected by BBS.
Article Synopsis
- Bardet-Biedl syndrome (BBS) significantly impacts both patients and their caregivers, particularly through hyperphagia, which contributes to early-onset obesity and various emotional and physical challenges.
- The CAREgiver Burden in BBS (CARE-BBS) study surveyed 242 adult caregivers, revealing common behaviors like food negotiation and overnight food-seeking in patients, as well as notable negative effects on mood, sleep, and school attendance.
- Results indicated that obesity greatly harms aspects of life such as physical comfort, body esteem, and social interaction, with a substantial portion of patients missing school frequently due to their symptoms.
Introduction: Bardet-Biedl syndrome (BBS) is a rare genetic disease associated with hyperphagia, a pathologic insatiable hunger, due to impaired signaling in the melanocortin-4 receptor (MC4R) pathway. The impact of hyperphagia on the lives of patients with BBS and their families has not been fully characterized.
Methods: Patients with BBS or their caregivers who participated in clinical trials of the MC4R agonist setmelanotide (NCT03013543 and NCT03746522) were included in this qualitative study.
Article Synopsis
- Bardet-Biedl syndrome is a rare genetic disorder causing severe obesity and hyperphagia, and its impact on quality of life has not been well studied.
- In a Phase 3 trial of 52 weeks of setmelanotide treatment, both children and adults showed significant improvements in health-related quality of life, as measured by the PedsQL for kids and the IWQOL-Lite for adults.
- The results indicated that after treatment, children had a mean improvement of +11.2 in PedsQL scores, while adults had a mean improvement of +12.0 in IWQOL-Lite scores, with notable correlations found between quality of life and changes in body weight and BMI.