Advances in research enable precision medicine for rare metabolic diseases. The approval of therapies as melanocortin-4 receptor (MC4R) agonists for the treatment of hyperphagia and obesity in monogenic disorders (POMC, PCSK1, and LEPR deficiencies) and Bardet-Biedl syndrome (BBS), affecting fewer than 1 in 20,000 (BBS...
Karine Clément, I. Farooqi, Peter Kühnen et al.· Journal of Clinical Endocrin...· 0 citations
Acquired hypothalamic obesity (aHO) is a rare complex disease characterized by hyperphagia and reduced energy expenditure, leading to accelerated and sustained weight gain. Commonly associated with pituitary hormone deficiencies, fatigue, or sleep disturbances, aHO puts patients at high risk for metabolic complic...
H. V. van Santen, Susan A. Phillips, J. Hamilton et al.· European Journal of Endocrin...· 0 citations
Hypothalamic melanocortin-4 receptor (MC4R) signalling is crucial for regulating hunger, satiety, and energy expenditure. Tumour/treatment-induced or traumatic brain injury to the hypothalamus can lead to hyperphagia and acquired hypothalamic obesity (aHO), for which no approved treatments exist. We present resul...
Susan A. Phillips, H. V. van Santen, J. Hamilton et al.· European Journal of Endocrin...· 0 citations
Setmelanotide led to significantly greater reductions in BMI and hunger than placebo at 52 weeks among participants 4 to 66 years of age with acquired hypothalamic obesity.
J. Miller, H. V. van Santen, Susan A. Phillips et al.· New England Journal of Medic...· 6 citations· ⚡2
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.