Bardet-Biedl syndrome is a rare genetic disease that affects people of all ages. It is associated with hyperphagia, a condition where people experience an insatiable appetite, leading to early-onset, severe obesity. Unfortunately, there is limited information on how hyperphagia and obesity affect the quality of life in people with this condition. But, recent research has shown that treating the symptoms of Bardet-Biedl syndrome can significantly improve the quality of life of affected individuals.
A Phase 3 clinical trial evaluated the effectiveness of setmelanotide in improving the quality of life of patients with Bardet-Biedl syndrome. The trial included patients of all ages with Bardet-Biedl syndrome and obesity who received 52 weeks of setmelanotide treatment.
The patients then completed various self-reported health-related quality-of-life measures.
For patients aged under 18 years, caregivers completed the Pediatric Quality of Life Inventory (PedsQL), while adults aged 18 years and above completed the Impact of Weight on Quality of Life Questionnaire-Lite (IWQOL-Lite). The results showed that patients reported significant improvements in their quality of life after one year of setmelanotide treatment.
After 52 weeks of treatment with setmelanotide, children and teenagers with Bardet-Biedl syndrome experienced an average increase in PedsQL score of 11.2 points. All patients who had problems with their PedsQL score before treatment saw clinically significant improvement. In adults, the average increase in IWQOL-Lite score from baseline was 12.0 points, and 62.5% of adults who had problems with their IWQOL-Lite score before treatment also saw clinically significant improvement.
The results also showed that the IWQOL-Lite score was significantly correlated with changes in percent body weight and body mass index. These findings demonstrate the importance of addressing impaired health-related quality of life in Bardet-Biedl syndrome and support the use of setmelanotide for reducing this burden.
This study provides hope for patients with Bardet-Biedl syndrome and their families, as it highlights the potential benefits of treating the symptoms of this rare genetic disorder. The study also underscores the need for more research on this condition and how to manage it effectively.
If you or someone you know has Bardet-Biedl syndrome and is struggling with hyperphagia and obesity, it's important to talk to your healthcare provider about treatment options, including setmelanotide. By working together, you can help improve the quality of life of individuals with Bardet-Biedl syndrome and reduce the burden of this rare genetic disease.