Study Shows How Setmelanotide Reduces Hyperphagia Associated with Bardet-Biedl Syndrome


Hyperphagia, or excessive and unrelenting hunger, is a key symptom associated with Bardet-Bield syndrome. This excessive hunger often begins around or before 5 years old and can lead to a number of social and physical issues, such as obesity or an inability to focus on friendships, tasks, or other parts of daily life. According to an article from Michael Monostra in Healio, a recent study explored how setmelanotide could reduce Bardet-Biedl-associated hyperphagia and meaningfully improve the lives of those affected.

Within the interview-based study, which was published in Advances in Therapy, the research team spoke with 19 individuals. Of these, eight had Bardet-Biedl syndrome and the remaining individuals were caregivers. All people interviewed had participated in Phase 2 or 3 studies on setemalnotide. They noted that throughout their lives, hyperphagia had been incredibly strong and debilitating throughout the day, with at least 50% reporting a constant hunger. 81.8% of caregivers stated that their children never felt satiated after eating, A large majority of both patients and caregivers reported issues with controlling hunger and eating; similarly, many participants shared that they felt that their hunger strained their relationships with others and caused them to struggle with focus.

During the interviews, participants shared insights into things like:

  • How hunger affected their lives before treatment vs. after
  • Whether their weight or functional abilities changed after setmelanotide treatment
  • How setmelanotide altered hunger (if at all)
  • General life improvements and happiness after treatment

Through this, the research team noticed a huge improvement in symptoms and overall quality-of-life (QOL) after treatment. Both patients and caregivers shared that hunger had improved within just two months of setmelanotide treatment. People felt that they had better control over how much food they were eating. Setmelanotide also helped patients to feel less fatigued and more physically healthy, assisted with weight loss, improved relationships, and contributed to heightened focus.

What is Bardet-Biedl Syndrome?

Bardet-Biedl syndrome is a rare genetic disorder that can impact multiple body systems. Researchers have implicated 12 different genes as causing Bardet-Biedl syndrome. The most common genetic cause is BBS1 gene mutations. These involved genes play a role in cilia, hair-like structures throughout the body that play a role in health and development. Bardet-Biedl syndrome is typically characterized by:

  • Renal abnormalities
  • Truncal obesity
  • An extra finger or toe
  • Visual impairment due to cone and rod deterioration
  • Learning difficulties
  • Hypogenitalism (problems with sex organ development)

Specific signs and severity differ between patients. Potential other symptoms associated with this disorder, expanding on the above, include:

  • Hyperphagia (an abnormally strong and continual hunger)
  • Progressive vision loss
  • Tunnel vision
  • High blood pressure
  • Night blindness
  • Rapid and involuntary eye movements
  • Short, wide, flat feet
  • Strabismus (crossed eyes)
  • Abnormal gait
  • Impaired ability to smell
  • Cataracts
  • Delayed puberty
  • Glaucoma
  • Webbed fingers or toes
  • Delayed speech/language

There are no cures for Bardet-Biedl syndrome. Treatment focuses on reducing symptoms and improving overall quality-of-life.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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