Rare Daily Staff

Rhythm Pharmaceuticals, a company focused on rare genetic diseases of obesity, signed a collaborative research agreement with the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS).

“This collaborative research agreement with Rhythm and CRIBBS paves the way for a comprehensive population study that we believe will deepen our understanding of the needs of patients and families living with Bardet-Biedl syndrome (BBS) and the real-world impact severe obesity and hyperphagia, or insatiable hunger, has on them,” said Robert Haws of the Marshfield Clinic Research Institute.

BBS is an ultra-rare genetic disease that affects multiple organ systems. Clinical features of BBS may include hyperphagia, early-onset, severe obesity, cognitive impairment, polydactyly, renal dysfunction, hypogonadism and visual impairment. There is great variability in presentation and severity of these symptoms across individuals with BBS. In the United States, Rhythm estimates that BBS affects approximately 1,500 to 2,500 people.

More than 600 individuals living with BBS are enrolled in CRIBBS, with more than 75 percent of them in the United States. The registry is designed to advance the understanding of BBS and its impact on patients and families, improve the care of people living with the disease, and augment scientific and clinical research. CRIBBS collects de-identified patient information through medical records, patient and caregiver interviews and annual surveys. It is supported by the BBS Foundation and Family Association, Bright Light to BBS, and Marshfield Clinic Research Institute.

Under the collaboration, health outcomes researchers will review data collected through registry questionnaires to quantify and describe unmet medical needs of adults and children with BBS and the impact severe obesity and hyperphagia has on them. Specifically, researchers will analyze natural history of treatment patterns and weight changes over time, as well as specific health outcomes and quality of life measures. The study also will examine the impact of hyperphagia on quality of life and developmental delays.

“With an improved understanding of the impacts of severe obesity and hyperphagia on long-term health and quality of life, we expect to be able to develop more tailored solutions to identify, properly diagnosis and treat people living with BBS and, we hope, improve our collective ability to address the needs and challenges facing this community,” said Murray Stewart, chief medical officer of Rhythm.

Rhythm’s medicine Imcivree, the first approved therapy for rare genetic disease of obesity, is approved in the United States for chronic weight management in adult and pediatric patients 6 years of age and older with obesity due to POMC, PCSK1 or LEPR deficiency confirmed by genetic testing and by the European Commission for the treatment of obesity and the control of hunger associated with genetically confirmed loss-of-function biallelic POMC, including PCSK1, deficiency or biallelic LEPR deficiency in adults and children 6 years of age and above.

Photo: Murray Stewart, chief medical officer of Rhythm

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