Rhythm Pharmaceuticals & Axovia Therapeutics Announce Joint Research Collaboration in Bardet-Biedl Syndrome

Rhythm Pharmaceuticals, Inc. and Axovia Therapeutics Ltd. recently announced a joint research collaboration designed to advance the understanding of Bardet-Biedl syndrome (BBS).

“We believe there is a significant need and opportunity with the growing awareness of BBS to better understand the disease and its epidemiology,” said Prof. Phil Beales, Axovia Therapeutics’ Chief Executive Officer and Co-Founder. “At Axovia, we are utilizing gene therapy to address the loss of sight and obesity experienced by patients with BBS, and we are pleased to be collaborating with Rhythm, a global company that has pioneered research in the melanocortin-4 receptor pathway and developed the first and only commercially available drug to help treat hyperphagia and severe obesity in patients living with BBS. Rhythm and Axovia Therapeutics are natural collaborators in such an effort.”

“Prof. Beales is a leading expert on BBS and was involved in creating the original diagnostic criteria for patients living with this disease,” said David Meeker, MD, Chairman, Chief Executive Officer and President of Rhythm. “We are excited to work together with Axovia Therapeutics to advance our shared understanding of the disease and pool the knowledge we have gained from our respective screening efforts with the goal of further improving the lives of patients and their families living with BBS.”

BBS is a rare autosomal recessive ciliopathy that presents with a variety of signs and symptoms that evolve over time including visual impairment, renal disease, polydactyly, genital abnormalities, cognitive impairment, hyperphagia and early-onset, severe obesity arising from impairment of the hypothalamic MC4R pathway. In the US, BBS affects approximately 4,000 to 5,000 individuals with similar prevalence in Europe.

Axovia Therapeutics is leading the development of therapies that address the genetic causes of blindness and obesity which are driven by ciliopathies. Ciliopathies are a group of more than 50 inherited genetic diseases linked to more than 950 genes that impact the function of cilia which are critical for protein transport and cellular signaling. The company is positioned to initiate clinical studies for its lead program for Bardet-Biedl Syndrome (BBS), AXV-101, in mid-2025 based on robust preclinical data, scaled manufacturing and established patient registries. The initial subretinal study is designed to halt photoreceptor cell death and retinal degeneration and the CNS delivery program, which will begin in 2026, will seek to address hyperphagia and obesity. AXV-101 has achieved US FDA Orphan Drug Designation and Rare Pediatric Disease Designation. Axovia was formed following decades of work on ciliopathies at University College London by co-founders Professor Phil Beales and Dr. Victor Hernandez.

Rhythm is a commercial-stage biopharmaceutical company committed to transforming the lives of patients living with rare neuroendocrine diseases. Rhythm’s lead asset, IMCIVREE (setmelanotide), an MC4R agonist designed to treat hyperphagia and severe obesity, is approved by the U.S. Food and Drug Administration (FDA) for chronic weight management in adult and pediatric patients 6 years of age and older with monogenic or syndromic obesity due to pro-opiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1) or leptin receptor (LEPR) deficiency confirmed by genetic testing, or patients with a clinical diagnosis of Bardet-Biedl syndrome (BBS). Both the European Commission (EC) and the UK’s 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 6 years of age and above. The EC has also authorized setmelanotide for control of hunger and treatment of obesity in children as young as 2 years old, living with BBS or POMC, PCSK1, or LEPR deficiency. Additionally, Rhythm is advancing a broad clinical development program for setmelanotide in other rare diseases, as well as investigational MC4R agonists LB54640 and RM-718, and a preclinical suite of small molecules for the treatment of congenital hyperinsulinism. Rhythm’s headquarters is in Boston, MA.