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Rhythm Pharmaceuticals, PreventionGenetics to Offer Genetic Testing for Obesity Disorders

NEW YORK — Rhythm Pharmaceuticals said on Wednesday that it is collaborating with PreventionGenetics to offer free testing for rare genetic obesity disorders as part of its drug development efforts.

Rhythm has a drug called setmelanotide under Phase III development for genetic obesity disorders including pro-opiomelanocortin deficiency obesity, leptin receptor deficiency obesity, Bardet-Biedl syndrome, and Alström syndrome. The compound is designed to activate melanocortin-4 receptor (MC4R), which has been linked to pathways involved in energy expenditure and appetite. Variants within the MC4 pathway are associated with hyperphagia and severe, early-onset obesity, according to the Boston-based company.

To help advance setmelanotide's development, Rhythm said it will offer free genetic testing through PreventionGenetics to individuals with early-onset severe obesity and insatiable hunger to help determine if their conditions have a genetic basis.

Rhythm said its program — called Uncovering Rare Obesity — will only cover the cost of the test and will not pay for a physician office visit, copay, sample collection, or any other related expenses. The firm added that it will also provide access to licensed genetic counselors from PWN Health.

To qualify, participants must be either 2 to 18 years of age with a body mass index (BMI) in the 97th percentile or more, or 19 years or older with a BMI of 40 or more and a history of childhood obesity before age 10.

"Rhythm has several initiatives designed to advance the understanding of genetic causes of severe obesity, and Uncovering Rare Obesity broadens these efforts and brings access to genetic testing into the community setting," Rhythm CEO Keith Gottesdiener said in a statement. "Uncovering Rare Obesity complements and adds to our growing program of sequencing and patient identification initiatives."

In early 2018, Rhythm partnered with WuXi NextCode to identify key genetic markers for rare metabolic syndromes. It has also been working with Genomenon to build a database of genetic mutations associated with obesity.

About a year ago, Marshfield, Wisconsin-based PreventionGenetics struck a deal with Inozyme Pharma to offer no-cost genetic testing for rare calcification disorders.