CASE REPORT article
Front. Endocrinol.
Sec. Neuroendocrine Science
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1646663
This article is part of the Research TopicHyperphagia in Syndromic and Hypothalamic Obesity: Mechanisms, Consequences, and InterventionsView all articles
Case Report: Improvement in cognitive functioning following setmelanotide initiation in a patient with Bardet-Biedl Syndrome
Provisionally accepted
- 1Albert Einstein College of Medicine, New York, United States
- 2The University of Oklahoma Health Sciences, Oklahoma City, United States
- 3Albert Einstein College of Medicine, New York City, United States
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Bardet-Biedl syndrome (BBS) is a rare genetic condition that results from mutations in a variety of genes crucial for ciliary transport. Consequently, patients with BBS present with a wide array of clinical signs and symptoms that include multiple organ systems. In particular there is a high burden of metabolic disturbances, such as obesity, hyperphagia, and type 2 diabetes, due to the impaired leptin-melanocortin-4 receptor (MC4R) pathway that prevents appropriate activation of MC4R that is normally responsible for signaling hunger and satiety. As such, setmelanotide, an MC4R agonist, has been approved for use to target the obesity and hyperphagia experienced by patients with BBS. Here we report a case of a patient with BBS who was started on setmelanotide for weight management following her BBS diagnosis. One month following treatment initiation, the patient not only endorsed reduced appetite, but also demonstrated a significant improvement in cognitive and affective functioning, as noted in her mental status exam and her performance on the Wechsler Adult Intelligence Scale Fourth Edition (WAIS-IV) tests, when compared to results prior to starting setmelanotide. Although previous studies have reported improved quality of life measures in patients with BBS following setmelanotide initiation, this is the first report of improved cognitive and affective functioning following initiation of the medication, highlighting the need to assess the effects of setmelanotide beyond the metabolic domain in patients with BBS.
Keywords: Bardet-Biedl Syndrome, melanocortin, Setmelanotide, Hyperphagia, Cognitive Function
Received: 13 Jun 2025; Accepted: 01 Sep 2025.
Copyright: © 2025 Kuk, Richards and Ross. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Rachel A Ross, Albert Einstein College of Medicine, New York City, United States
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