{"id":968035,"date":"2026-05-28T08:19:09","date_gmt":"2026-05-28T12:19:09","guid":{"rendered":"https:\/\/www.marketnewsdesk.com\/index.php\/rhythm-pharmaceuticals-announces-publication-of-new-bardet-biedl-syndrome-diagnostic-algorithm-in-the-american-journal-of-medical-genetics\/"},"modified":"2026-05-28T08:19:09","modified_gmt":"2026-05-28T12:19:09","slug":"rhythm-pharmaceuticals-announces-publication-of-new-bardet-biedl-syndrome-diagnostic-algorithm-in-the-american-journal-of-medical-genetics","status":"publish","type":"post","link":"https:\/\/www.marketnewsdesk.com\/index.php\/rhythm-pharmaceuticals-announces-publication-of-new-bardet-biedl-syndrome-diagnostic-algorithm-in-the-american-journal-of-medical-genetics\/","title":{"rendered":"Rhythm Pharmaceuticals Announces Publication of New Bardet-Biedl Syndrome Diagnostic Algorithm in the American Journal of Medical Genetics"},"content":{"rendered":"
\n

BOSTON, May 28, 2026 (GLOBE NEWSWIRE) — Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM), a global commercial-stage biopharmaceutical company focused on transforming the lives of patients living with rare neuroendocrine diseases, today announced the publication of a new, evidence-based consensus-driven diagnostic algorithm for Bardet-Biedl syndrome (BBS). \u201cStreamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm with Updated Criteria,\u201d was published in the peer-reviewed\u00a0American Journal of Medical Genetics<\/em><\/a>.<\/p>\n

This simplified and practical diagnostic algorithm for healthcare practitioners is designed to reduce time to an informed diagnosis of BBS. A multidisciplinary group of international experts and patient advocacy organizations came together for this effort, reaffirming that BBS diagnosis can be made clinically, and providing guidance on how genetic testing can help with earlier diagnosis when all clinical criteria are not yet met. Building on the original Beales\u2019 Criteria published in 1999, these updates integrate advances in understanding BBS, including its multisystem manifestations and broader clinical presentation, as well as progress in genetic testing.<\/p>\n

\u201cThe original diagnostic criteria were pivotal in defining Bardet-Biedl syndrome over two decades ago; however, advances in our understanding of this disease now support a more practical and integrated approach,\u201d said Professor Philip Beales, Emeritus Professor of Molecular Genetics and Genomic Medicine at University College London, primary author on the original Beales\u2019 Criteria and senior author on this new publication. \u201cThis algorithm offers clearer guidance to support earlier diagnosis, which is essential for timely management and care.\u201d<\/p>\n

BBS is often difficult to recognize due to its variable and progressive presentation, as well as its multi-organ involvement. These factors may contribute to significant delays in diagnosis. The new algorithm provides diagnostic pathways applicable across all age groups and across a range of clinical presentations. It also outlines organ-specific manifestations based on prevalence data from multiple sources, enabling multidisciplinary specialists to more easily diagnose BBS.<\/p>\n

\u201cEarly and accurate BBS diagnosis can make an enormous difference for affected families,\u201d said Tim Ogden, Executive Director of the Bardet Biedl Syndrome Foundation and author on this publication. \u201cI know from personal experience that diagnosis opens the door to appropriate clinical care and support services, and better outcomes are possible the earlier that happens. Even in 2026, too many families spend years searching for answers before they get an accurate diagnosis.\u201d<\/p>\n

Next month, Brooke Sweeney, MD, Professor of Internal Medicine\/Pediatrics and Medical Director of Weight Management at Children’s Mercy Kansas City and an author on this new publication, will present the updated BBS diagnostic algorithm during Rhythm\u2019s inaugural MOMENTUM MC4R Pathway Summit on Friday, June 12 in Chicago, ahead of The Endocrine Society\u2019s Annual Meeting (ENDO). For more information on MOMENTUM, please email: MC4Rsummit@rhythmtx.com<\/a>.<\/p>\n

Writing and editorial assistance for \u201cStreamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm with Updated Criteria,\u201d was provided under the direction of the authors and funded by Rhythm Pharmaceuticals, Inc.<\/p>\n

\n About Bardet-Biedl Syndrome<\/strong>\n <\/p>\n

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy that presents with\u00a0a variety of symptoms that may evolve over time. At least 28 genes have been associated with BBS to date, and some of these genes play a critical role in MC4R signaling. Variants in genes encoding the BBSome (a complex of 8 BBS proteins), or those that support BBSome function, can result in dysfunction of primary cilium, leading to impaired leptin receptor trafficking. This impairs MC4R pathway signaling, thereby causing hyperphagia and early-onset, severe obesity. BBS is estimated to affect approximately 4,000-5,000 people in the United States and 4,000-5,000 people in Europe.<\/p>\n

\n About Rhythm Pharmaceuticals<\/strong>
\n
Rhythm is a commercial-stage biopharmaceutical company committed to transforming the lives of patients and their families living with rare neuroendocrine diseases. Rhythm\u2019s lead asset, IMCIVREE\u00ae<\/sup> (setmelanotide), an MC4R agonist designed to treat hyperphagia and severe obesity, is approved by the U.S. Food and Drug Administration (FDA) to reduce excess body weight and maintain weight reduction long term in adult and pediatric patients aged 4 years and older with acquired hypothalamic obesity, adult and pediatric patients 2 years of age and older with syndromic or monogenic obesity due to Bardet-Biedl syndrome (BBS) or genetically confirmed pro-opiomelanocortin (POMC), including proprotein convertase subtilisin\/kexin type 1 (PCSK1), deficiency or leptin receptor (LEPR) deficiency. The European Commission (EC) has authorized setmelanotide for the treatment of obesity and control of hunger in patients 4 years of age and above with acquired hypothalamic obesity; and both the EC and the UK\u2019s Medicines & Healthcare Products Regulatory Agency (MHRA) have authorized setmelanotide for the treatment of obesity and the control of hunger associated with genetically confirmed BBS or genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 2 years of age and above. Additionally, Rhythm is advancing a broad clinical development program for setmelanotide in other rare diseases, as well as investigational MC4R agonists bivamelagon and RM-718, and a preclinical suite of small molecules for the treatment of congenital hyperinsulinism. Rhythm\u2019s headquarters is in Boston, MA.<\/p>\n

\n Setmelanotide Indication<\/strong>
\n
In the United States, setmelanotide is indicated to reduce excess body weight and maintain weight reduction long term in adults and pediatric patients aged 4 years and older with acquired hypothalamic obesity, in adult and pediatric patients aged 2 years and older with syndromic or monogenic obesity due to Bardet-Biedl syndrome (BBS) or Pro-opiomelanocortin (POMC), proprotein convertase subtilisin\/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency confirmed by genetic testing demonstrating variants in POMC, PCSK1, or LEPR genes that are interpreted as pathogenic, likely pathogenic, or of uncertain significance (VUS).<\/p>\n

In the European Union and the United Kingdom, setmelanotide is indicated for the treatment of obesity and the control of hunger associated with genetically confirmed BBS or loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 2 years of age and above. In the European Union and the United Kingdom, setmelanotide should be prescribed and supervised by a physician with expertise in obesity with underlying genetic etiology.<\/p>\n

\n Limitations of Use<\/strong>\n <\/p>\n

Setmelanotide is not indicated for the treatment of patients with the following conditions as setmelanotide would not be expected to be effective:<\/p>\n