Bardet-Biedl Syndrome (BBS) is an uncommon genetic disorder, with an estimated 250,000 people globally living with the condition. It impacts various parts of the body, but some of the most prominent symptoms are related to weight and appetite.
“Compulsive eating”, early onset obesity and cognitive impairments are among the most significant symptoms, as reported by News Medical. At present, there’s no cure, and treatment is centred on managing individual symptoms.
However, a recent study has discovered some promising possibilities for treating the metabolic issues caused by the syndrome. GLP-1 drugs, which are used to treat type-2 diabetes and obesity, showed encouraging results when tested on mice with the condition. The study’s lead author, Arashdeep Singh, PhD, stated: “Our findings suggest that GLP-1-based therapies effectively target gut and brain pathways involved in feeding and metabolism, even in the context of a complex genetic disorder like BBS.
“This offers a much-needed treatment option for an underserved population.”
The abnormal weight gain linked with BBS typically begins in childhood and can persist throughout the individual’s life. It can also lead to additional complications such as type 2 diabetes, high blood pressure and high cholesterol, she stated in the Journal of Clinical Investigation publication. However, the study from the Monell Chemical Senses Center acknowledged that access to these medications in real-world settings could be some way off due to the early stage of the research.
Symptoms of the condition can differ greatly among patients, with even members of the same family exhibiting different signs. BBS is caused by a faulty recessive gene, meaning both parents could be healthy carriers, and the fault only activates if their child inherits both copies of the gene.
Other common symptoms of BBS include polydactyly, or the presence of extra fingers or toes, intellectual disabilities, progressive vision loss, potentially life-threatening kidney abnormalities, and genital abnormalities that may result in infertility.
Early diagnosis and treatment can significantly improve the quality of life for those living with BBS. Many adults can achieve a high degree of independence through interventions such as physiotherapy, speech therapy, and special education.
BBS UK estimates there are currently around 560 people in the UK with the condition. However, they also highlight that the rarity of the condition and the variability of symptoms often lead to delays in diagnosis and treatment.
