Bardet-Biedl Syndrome Patients Have a New Treatment Option: Setmelanotide

Medscape has recently reported on a new supplemental approval from the FDA for setmelanotide, which is a treatment for obesity associated with Bardet-Biedl syndrome (BBS). Now, BBS patients who are six years old and older have a new option for chronic weight management. This comes after the FDA initially granted approval back in November of 2020. This approval spanned three indications: BBS, POMC deficiency, and LEPR deficiency. The commonality between these three rare disorders is that they cause insatiable hunger and ensuing obesity.

This approval comes after the evaluation of data from a 66-week long clinical trial – the first 14 weeks were double-blind, placebo-controlled, and randomized, whereas the following 52 were open-label. The primary endpoint, alongside important secondary endpoints, were met. Results include:

  • An average reduction of 7.9% in BMI
  • 61% of patients lost a minimum of 5% of their starting BMI
    • 39% of patients lost a minimum of 10%
  • Those of age to self-report hunger (12 years old and above) relayed a mean change of -2.1 in hunger scores
  • In the first 14 weeks of the trial, BMI decreased by 4.6%
    • This can be compared to 0.1% in the placebo group
  • The most common adverse events (AEs) were nausea, diarrhea, vomiting, headache, injection site reactions, hyperpigmentation, spontaneous erection, abdominal pain, and depression.

About Bardet-Biedl Syndrome

Bardet-Biedl syndrome, once thought to be the same as Laurence-Moon syndrome, is an autosomal recessive disorder that primarily affects cells that receive light. Cone and rod cells in the retina deteriorate when one has this syndrome. There are twelve separate genes that can cause Bardet-Biedl syndrome, but the most common one is the BBS1 gene. The similarity between these cells is that they all affect cilia, which cover nearly all cells in the body. Cilia are responsible for normal health and development. Because these genes affect the function of the cilia, nearly all of the symptoms are due to this dysfunction. These symptoms can vary greatly from person to person, but they are characterized by visual impairments. People’s vision worsens as they age, and they can experience tunnel vision, night-blindness, or complete blindness. Along with the worsening of vision, people can experience crossed eyes, rapid eye movement, cataracts, or glaucoma.

Beyond visual impairments, symptoms can include an additional toe or finger, obesity, short digits, webbing of the fingers or toes, short, wide, or flat feet, delayed puberty, speech impediments, behavioral issues, abnormalities in gait, high blood pressure, trouble with smelling, and ataxia. After these symptoms are noticed by a doctor, a clinical examination or genetic testing can diagnose Bardet-Biedl syndrome. No cure for this syndrome currently exists, but there are treatments that can help to treat symptoms. Surgery can help to correct webbing of the fingers or toes and extra digits, and lifestyle changes can help to manage obesity. For other symptoms, healthcare professionals recommend finding a specialist to monitor and manage them.

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