Rhythm Pharma and Axovia Therapeutics Announce Bardet-Biedl Syndrome Collaboration

BOSTON and LONDON, Oct. 24, 2024 - Rhythm Pharmaceuticals, Inc. (Nasdaq: RYTM) and Axovia Therapeutics Ltd. have announced a significant research collaboration to enhance the understanding of Bardet-Biedl syndrome (BBS). This partnership aims to leverage the growing awareness of BBS and address its critical needs through combined expertise and resources.

Prof. Phil Beales, CEO and Co-Founder of Axovia Therapeutics, highlighted the importance of this collaboration. He emphasized Axovia's commitment to using gene therapy to combat the vision loss and obesity faced by BBS patients. Axovia's approach complements Rhythm Pharmaceuticals' extensive research on the melanocortin-4 receptor pathway. Rhythm has developed the first and only commercial drug for treating hyperphagia and severe obesity in BBS patients, making the two companies natural partners in this joint effort.

David Meeker, M.D., Chairman, CEO, and President of Rhythm Pharmaceuticals, expressed excitement about the collaboration. He praised Prof. Beales' expertise in BBS, noting his role in establishing the original diagnostic criteria for the syndrome. Meeker emphasized the potential to improve lives by combining their knowledge from respective screening efforts.

Bardet-Biedl syndrome (BBS) is a rare genetic disorder characterized by a range of symptoms that evolve over time. These include visual impairment, kidney disease, extra fingers or toes, genital abnormalities, cognitive challenges, excessive hunger, and severe early-onset obesity due to a dysfunctional hypothalamic MC4R pathway. In the U.S., BBS affects about 4,000-5,000 people, with similar prevalence in Europe.

Axovia Therapeutics focuses on developing treatments targeting the genetic causes of blindness and obesity linked to ciliopathies. These ciliopathies comprise over 50 inherited genetic disorders impacting cilia, essential for protein transport and cellular signaling. Axovia aims to launch clinical trials for its lead BBS program, AXV-101, in mid-2025, following promising preclinical data, scaled manufacturing, and established patient registries. The initial subretinal study will aim to prevent photoreceptor cell death and retinal degeneration, while a CNS delivery program set to start in 2026 will address hyperphagia and obesity. AXV-101 has received FDA Orphan Drug Designation and Rare Pediatric Disease Designation. The company's foundations trace back to extensive ciliopathy research at University College London by co-founders Prof. Phil Beales and Dr. Victor Hernandez.

Rhythm Pharmaceuticals is dedicated to transforming the lives of patients with rare neuroendocrine diseases. Their flagship product, IMCIVREE® (setmelanotide), an MC4R agonist, is designed to treat hyperphagia and severe obesity. It has FDA approval for chronic weight management in adults and children aged six and above with obesity due to pro-opiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency confirmed by genetic testing, or with a clinical diagnosis of BBS. Both the European Commission (EC) and the UK’s Medicines & Healthcare Products Regulatory Agency (MHRA) have also authorized setmelanotide for treating obesity and controlling hunger associated with genetically confirmed BBS or biallelic POMC, PCSK1, or LEPR deficiencies in adults and children aged six and older. In Europe, setmelanotide is also authorized for children as young as two with these conditions. Rhythm is advancing a broad clinical program for setmelanotide in other rare diseases and developing investigational MC4R agonists LB54640 and RM-718, alongside a preclinical suite of small molecules for congenital hyperinsulinism. Rhythm's headquarters is in Boston, MA.

Setmelanotide is indicated in the U.S. for chronic weight management in adults and pediatric patients six years and older with monogenic or syndromic obesity due to POMC, PCSK1, or LEPR deficiency confirmed by FDA-approved tests, or BBS. In the EU, it is indicated for obesity and hunger control related to genetically confirmed BBS or biallelic POMC, PCSK1, or LEPR deficiencies in individuals aged six and above. Setmelanotide must be prescribed and supervised by an expert physician in genetic obesity etiology.

Setmelanotide is not intended for patients whose obesity is not related to POMC, PCSK1, or LEPR deficiency, including most other genetic syndromes and polygenic obesity. It is contraindicated in patients with prior serious hypersensitivity to setmelanotide or its excipients. Treatment may cause skin pigmentation changes, heart rate and blood pressure variations, sexual arousal disturbances, depression, suicidal thoughts, serious hypersensitivity reactions, and adverse effects in the pediatric population.